Variant report

Variant	nsv894511
Chromosome Location	chr9:139860631-139885820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:604)
CpG islands
(count:1221)
Chromatin interactive
region (count:94)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139860638-139860838	K562	blood:	n/a	n/a
2	ATF3	chr9:139860619-139860926	K562	blood:	n/a	n/a
3	BACH1	chr9:139872315-139872646	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:139871865-139872056	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:139870131-139870228	K562	blood:	n/a	n/a
6	BHLHE40	chr9:139872420-139872841	K562	blood:	n/a	n/a
7	BHLHE40	chr9:139874730-139874873	K562	blood:	n/a	n/a
8	BHLHE40	chr9:139860654-139860861	K562	blood:	n/a	n/a
9	BRCA1	chr9:139876202-139876347	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr9:139877058-139877367	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr9:139872404-139872540	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr9:139884982-139885388	K562	blood:	n/a	n/a
13	CBX3	chr9:139885790-139886060	K562	blood:	n/a	n/a
14	CBX3	chr9:139884849-139886698	K562	blood:	n/a	n/a
15	CBX3	chr9:139872642-139872903	K562	blood:	n/a	n/a
16	CCNT2	chr9:139872596-139872954	K562	blood:	n/a	n/a
17	CCNT2	chr9:139874795-139874799	K562	blood:	n/a	n/a
18	CEBPB	chr9:139866295-139866381	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:139876078-139876742	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr9:139884727-139885034	HepG2	liver:	n/a	n/a
21	CEBPB	chr9:139884692-139885128	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr9:139877057-139877396	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr9:139871670-139871972	IMR90	lung:	n/a	n/a
24	CEBPB	chr9:139862048-139862229	IMR90	lung:	n/a	n/a
25	CEBPB	chr9:139862071-139862204	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr9:139871707-139871907	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr9:139862151-139862199	K562	blood:	n/a	n/a
28	CHD2	chr9:139876198-139876346	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr9:139877151-139877560	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr9:139872793-139872990	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr9:139876716-139876945	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr9:139873456-139873493	K562	blood:	n/a	n/a
33	CHD2	chr9:139869363-139869689	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr9:139870187-139870354	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr9:139872472-139872708	K562	blood:	n/a	n/a
36	CREB1	chr9:139863490-139863951	A549	lung:	n/a	n/a
37	CTCF	chr9:139870120-139870270	HBMEC	blood vessel:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
38	CTCF	chr9:139876660-139876810	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr9:139870400-139870550	HEK293	kidney:	n/a	n/a
40	CTCF	chr9:139870180-139870330	AG09309	skin:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
41	CTCF	chr9:139870120-139870270	GM06990	blood:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
42	CTCF	chr9:139873380-139873530	K562	blood:	n/a	n/a
43	CTCF	chr9:139870120-139870270	AG10803	skin:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
44	CTCF	chr9:139870160-139870310	HEK293	kidney:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
45	CTCF	chr9:139870120-139870270	HA-sp	spinal cord:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
46	CTCF	chr9:139870200-139870350	GM12872	blood:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
47	CTCF	chr9:139870160-139870310	AG04449	skin:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
48	CTCF	chr9:139870153-139870316	HepG2	liver:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
49	CTCF	chr9:139870057-139870400	K562	blood:	n/a	chr9:139870226-139870247 chr9:139870225-139870241 chr9:139870227-139870240 chr9:139870227-139870240 chr9:139870224-139870242
50	CTCF	chr9:139873278-139873571	K562	blood:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139872246-139872296	HEK293	kidney:	embryo
2	chr9:139872246-139872296	HEK293	kidney:	embryo
3	chr9:139880069-139880119	MCF10A-Er-Src	breast:	n/a
4	chr9:139880069-139880119	HPAEpiC	pulmonary alveolar:	n/a
5	chr9:139872161-139872211	SKMC	muscle:	n/a
6	chr9:139879629-139879679	CMK	blood:	n/a
7	chr9:139873714-139873764	HEK293	kidney:	embryo
8	chr9:139872161-139872211	HAEpiC	amniotic membrane:	n/a
9	chr9:139874616-139874666	NHDF-neo	bronchial:	n/a
10	chr9:139872395-139872445	HMEC	breast:	n/a
11	chr9:139872839-139872889	MCF10A-Er-Src	breast:	n/a
12	chr9:139872395-139872445	A549	lung:	n/a
13	chr9:139880069-139880119	HL-60	blood:	n/a
14	chr9:139872871-139872921	U87	brain:	n/a
15	chr9:139871049-139871099	BE2_C	brain:	n/a
16	chr9:139877624-139877674	HPAEpiC	pulmonary alveolar:	n/a
17	chr9:139879629-139879679	A549	lung:	n/a
18	chr9:139885129-139885179	HRPEpiC	eye:	n/a
19	chr9:139872246-139872296	AG09309	skin:	n/a
20	chr9:139874616-139874666	HRCEpiC	kidney:	n/a
21	chr9:139872839-139872889	SK-N-MC	brain:	n/a
22	chr9:139874616-139874666	GM12892	blood:	n/a
23	chr9:139872871-139872921	AoSMC	blood vessel:	n/a
24	chr9:139871049-139871099	SK-N-SH_RA	brain:	n/a
25	chr9:139877624-139877674	BE2_C	brain:	n/a
26	chr9:139885129-139885179	SKMC	muscle:	n/a
27	chr9:139877624-139877674	AG10803	skin:	n/a
28	chr9:139872839-139872889	HRE	kidney:	n/a
29	chr9:139884177-139884227	AG10803	skin:	n/a
30	chr9:139871955-139872005	NB4	blood:	n/a
31	chr9:139884177-139884227	HCT-116	colon:	n/a
32	chr9:139872161-139872211	Hela-S3	cervix:	n/a
33	chr9:139872161-139872211	LNCaP	prostate:	n/a
34	chr9:139875581-139875631	NT2-D1	testis:	n/a
35	chr9:139874616-139874666	HMEC	breast:	n/a
36	chr9:139860765-139860815	AoSMC	blood vessel:	n/a
37	chr9:139880223-139880273	CMK	blood:	n/a
38	chr9:139871049-139871099	HPAEpiC	pulmonary alveolar:	n/a
39	chr9:139872246-139872296	AG04449	skin:	fetal
40	chr9:139880069-139880119	AG09309	skin:	n/a
41	chr9:139875581-139875631	HCPEpiC	choroid plexus:	n/a
42	chr9:139872839-139872889	MCF-7	breast:	n/a
43	chr9:139871955-139872005	HCM	heart:	n/a
44	chr9:139877624-139877674	HUVEC	blood vessel:	n/a
45	chr9:139860765-139860815	HCF	heart:	n/a
46	chr9:139880069-139880119	SK-N-MC	brain:	n/a
47	chr9:139877292-139877342	BE2_C	brain:	n/a
48	chr9:139873714-139873764	T-47D	breast:	n/a
49	chr9:139872395-139872445	NT2-D1	testis:	n/a
50	chr9:139872395-139872445	HIPEpiC	eye:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:139685199..139687807-chr9:139878255..139880218,2	MCF-7	breast:
2	chr9:139701574..139704508-chr9:139876130..139878541,2	MCF-7	breast:
3	chr9:139856797..139861379-chr9:139867698..139872892,7	K562	blood:
4	chr9:139868640..139871167-chr9:139911522..139913073,2	K562	blood:
5	chr9:139754584..139762382-chr9:139883048..139889143,8	MCF-7	breast:
6	chr9:139839312..139841565-chr9:139858162..139860949,2	K562	blood:
7	chr9:139847637..139849597-chr9:139859176..139861845,2	MCF-7	breast:
8	chr9:139871578..139873267-chr9:139915233..139918158,2	K562	blood:
9	chr9:139620760..139623231-chr9:139884349..139886015,2	MCF-7	breast:
10	chr9:139684580..139687679-chr9:139885169..139891093,6	MCF-7	breast:
11	chr9:139739695..139750977-chr9:139884187..139892196,24	MCF-7	breast:
12	chr9:139885718..139888634-chr9:140133722..140135895,2	MCF-7	breast:
13	chr9:139859627..139863441-chr9:139865305..139867186,3	K562	blood:
14	chr9:139885152..139889374-chr9:139914138..139918974,10	K562	blood:
15	chr9:139621304..139623071-chr9:139872879..139875710,2	K562	blood:
16	chr9:139885074..139890200-chr9:139937599..139941654,8	MCF-7	breast:
17	chr9:139836188..139848313-chr9:139883522..139894647,40	MCF-7	breast:
18	chr9:139871065..139875478-chr9:139913378..139917621,6	K562	blood:
19	chr9:139844664..139846900-chr9:139871545..139874035,2	K562	blood:
20	chr9:139856986..139859547-chr9:139885105..139886814,2	MCF-7	breast:
21	chr9:139836453..139844148-chr9:139884945..139890988,15	K562	blood:
22	chr9:139868220..139870028-chr9:139874031..139876030,2	MCF-7	breast:
23	chr9:139683825..139687268-chr9:139871414..139874835,3	K562	blood:
24	chr9:139870625..139872878-chr9:140098615..140100472,2	K562	blood:
25	chr9:139859218..139862030-chr9:139862980..139865170,3	K562	blood:
26	chr9:139872018..139873607-chr9:139920682..139923548,2	K562	blood:
27	chr9:139842583..139844797-chr9:139871048..139874823,3	MCF-7	breast:
28	chr9:139867154..139869046-chr9:139944992..139947044,2	K562	blood:
29	chr9:139700783..139704269-chr9:139871930..139874746,3	MCF-7	breast:
30	chr9:139866249..139869534-chr9:139881051..139883779,3	MCF-7	breast:
31	chr9:139839168..139840906-chr9:139862731..139865227,2	MCF-7	breast:
32	chr9:139841985..139846327-chr9:139875508..139880293,6	MCF-7	breast:
33	chr9:139885572..139888217-chr9:140133732..140136326,3	K562	blood:
34	chr9:139884858..139886684-chr9:139981428..139982995,2	MCF-7	breast:
35	chr9:139885686..139887424-chr9:140062463..140065050,2	MCF-7	breast:
36	chr9:139873201..139873878-chr9:139922743..139923537,2	K562	blood:
37	chr9:139855888..139859011-chr9:139864515..139866807,3	MCF-7	breast:
38	chr9:139861716..139863218-chr9:139877132..139878695,2	MCF-7	breast:
39	chr9:139685305..139687370-chr9:139885305..139886970,2	MCF-7	breast:
40	chr9:139842613..139845437-chr9:139881716..139884498,3	MCF-7	breast:
41	chr9:139859627..139863441-chr9:139865305..139867186,3	K562	blood:
42	chr9:139859481..139862147-chr9:139877787..139879524,2	MCF-7	breast:
43	chr9:139854252..139857118-chr9:139869930..139871811,2	MCF-7	breast:
44	chr9:139859339..139861379-chr9:139869933..139873332,3	K562	blood:
45	chr9:139873674..139878101-chr9:139922042..139924595,3	K562	blood:
46	chr9:139837085..139841109-chr9:139881147..139884895,4	MCF-7	breast:
47	chr9:139835507..139852162-chr9:139884980..139895056,54	MCF-7	breast:
48	chr9:139871397..139874309-chr9:139943937..139946051,2	K562	blood:
49	chr1:203274337..203274841-chr9:139872600..139873120,2	MCF-7	breast:
50	chr9:139871316..139873817-chr9:140134381..140137314,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLIC3-1	chr9:139869847-139869938	ENSG00000238268.1
2	lnc-CLIC3-1	chr9:139869546-139869706	ENSG00000238268.1
3	lnc-PTGDS-1	chr9:139869847-139869938	ENSG00000238268.2
4	lnc-LCNL1-1	chr9:139879488-139880263	NONHSAT135639
5	lnc-PTGDS-1	chr9:139871001-139871433	ENSG00000238268.2
6	lnc-LCNL1-1	chr9:139878454-139879015	NONHSAT135639
7	lnc-CLIC3-1	chr9:139871001-139871433	ENSG00000238268.1
8	lnc-PTGDS-1	chr9:139869546-139869706	ENSG00000238268.2
9	lnc-LCNL1-1	chr9:139880570-139880862	NONHSAT135639

No data

Variant related genes	Relation type
ENSG00000238268	TF binding region
PTGDS	TF binding region
LCNL1	TF binding region
C9orf141	TF binding region
C9orf142	TF binding region
ENSG00000238268	CpG island
PTGDS	CpG island
LCNL1	CpG island
C9orf141	CpG island
C9orf142	CpG island
ENSG00000235117	chromatin interactions
ENSG00000233791	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000159388	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000198454	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000107281	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000187713	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000054179	chromatin interactions
ENSG00000237886	chromatin interactions
ENSG00000214402	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000177239	chromatin interactions
ENSG00000229257	chromatin interactions
ENSG00000148400	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000184709	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000238268	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000188566	chromatin interactions
ENSG00000263697	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000180549	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000176058	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000165716	chromatin interactions
ENSG00000196642	chromatin interactions

Extended variants
information (count: 1106 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11793787	chr9:139860631-139860632	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538846515	chr9:139860640-139860641	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs560564551	chr9:139860677-139860678	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs558864218	chr9:139860691-139860692	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs569167678	chr9:139860692-139860693	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs536653633	chr9:139860698-139860699	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs115662177	chr9:139860730-139860731	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs573539861	chr9:139860731-139860732	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs185151172	chr9:139860748-139860749	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs144604653	chr9:139860757-139860758	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs376738876	chr9:139860808-139860809	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs11145952	chr9:139860832-139860833	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs148465873	chr9:139860860-139860861	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs545181549	chr9:139860880-139860881	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs565179086	chr9:139860891-139860892	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs116183291	chr9:139860914-139860915	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs188815785	chr9:139860919-139860920	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs571189840	chr9:139860934-139860935	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs530023950	chr9:139860988-139860989	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs74883416	chr9:139861016-139861017	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs77957660	chr9:139861017-139861018	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs78717806	chr9:139861018-139861019	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs74997577	chr9:139861019-139861020	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs539818173	chr9:139861040-139861041	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs13290780	chr9:139861076-139861077	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs551428687	chr9:139861081-139861082	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs13295095	chr9:139861113-139861114	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs532577390	chr9:139861129-139861130	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs552308436	chr9:139861157-139861158	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs569232488	chr9:139861192-139861193	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs112406207	chr9:139861193-139861194	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
32	rs111383616	chr9:139861208-139861209	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
33	rs567300929	chr9:139861247-139861248	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs192911194	chr9:139861269-139861270	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs11145953	chr9:139861283-139861284	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs4880177	chr9:139861324-139861325	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs372114902	chr9:139861325-139861326	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs28550551	chr9:139861326-139861327	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs28510294	chr9:139861328-139861329	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs201944720	chr9:139861384-139861385	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs4880178	chr9:139861395-139861396	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
42	rs572925514	chr9:139861396-139861397	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs545243231	chr9:139861441-139861442	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs537790922	chr9:139861450-139861451	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs558748886	chr9:139861466-139861467	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs7019538	chr9:139861470-139861471	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs544525500	chr9:139861498-139861499	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs561025344	chr9:139861534-139861535	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs7867623	chr9:139861552-139861553	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540223340	chr9:139861565-139861566	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139852000-139862000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr9:139855200-139861000	Enhancers	Spleen	Spleen
3	chr9:139856800-139861800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr9:139858600-139860800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr9:139858600-139861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:139859200-139860800	Enhancers	Stomach Mucosa	stomach
7	chr9:139859200-139864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:139859400-139867800	Weak transcription	A549	lung
9	chr9:139859600-139861000	Enhancers	Hela-S3	cervix
10	chr9:139859600-139869600	Weak transcription	Gastric	stomach
11	chr9:139860000-139861000	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:139860000-139861000	Enhancers	Left Ventricle	heart
13	chr9:139860000-139861000	Enhancers	Right Ventricle	heart
14	chr9:139860200-139860800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr9:139860200-139860800	Enhancers	Liver	Liver
16	chr9:139860200-139860800	Enhancers	Placenta	Placenta
17	chr9:139860200-139860800	Flanking Active TSS	Thymus	Thymus
18	chr9:139860200-139860800	Bivalent Enhancer	Dnd41	blood
19	chr9:139860200-139861000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr9:139860200-139861000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:139860200-139861000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:139860200-139861000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:139860200-139861000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:139860200-139861000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr9:139860200-139861000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:139860200-139861000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:139860200-139861000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr9:139860200-139861000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:139860200-139861000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr9:139860200-139861000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr9:139860200-139861000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr9:139860200-139861000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr9:139860200-139861000	Enhancers	GM12878-XiMat	blood
34	chr9:139860200-139861200	Enhancers	Primary T cells from cord blood	blood
35	chr9:139860400-139860800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:139860400-139860800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr9:139860400-139860800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:139860400-139860800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr9:139860400-139860800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr9:139860400-139860800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr9:139860400-139860800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr9:139860400-139860800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr9:139860400-139860800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:139860400-139860800	Enhancers	Esophagus	oesophagus
45	chr9:139860400-139860800	Enhancers	Lung	lung
46	chr9:139860400-139860800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr9:139860400-139860800	Enhancers	Right Atrium	heart
48	chr9:139860400-139860800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr9:139860400-139860800	Enhancers	HSMMtube	muscle
50	chr9:139860400-139860800	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links