Variant report

Variant	esv1819984
Chromosome Location	chr9:136842109-136858528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1071)
CpG islands
(count:856)
Chromatin interactive
region (count:50)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:136856048-136856079	HepG2	liver:	n/a	n/a
2	BACH1	chr9:136856855-136856872	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:136857281-136858367	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:136856324-136856351	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:136858165-136858241	K562	blood:	n/a	n/a
6	BCL3	chr9:136857104-136857688	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857667-136857680 chr9:136857587-136857600
7	BCL3	chr9:136857966-136858629	A549	lung:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
8	BCLAF1	chr9:136857949-136858391	GM12878	blood:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
9	BCLAF1	chr9:136857182-136857925	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857722-136857735 chr9:136857667-136857680 chr9:136857587-136857600 chr9:136857703-136857716
10	BHLHE40	chr9:136843682-136844132	HepG2	liver:	n/a	chr9:136843822-136843838
11	BHLHE40	chr9:136857175-136857795	GM12878	blood:	n/a	chr9:136857723-136857739
12	BHLHE40	chr9:136857536-136857643	K562	blood:	n/a	n/a
13	BHLHE40	chr9:136858022-136858718	GM12878	blood:	n/a	chr9:136858292-136858308
14	BHLHE40	chr9:136858375-136858412	K562	blood:	n/a	n/a
15	BHLHE40	chr9:136856410-136856656	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:136857238-136857657	HepG2	liver:	n/a	n/a
17	BRCA1	chr9:136843712-136843912	HepG2	liver:	n/a	n/a
18	BRCA1	chr9:136856472-136856482	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr9:136857229-136857386	Hela-S3	cervix:	n/a	n/a
20	CCNT2	chr9:136857387-136858522	K562	blood:	n/a	chr9:136858030-136858039 chr9:136858444-136858453
21	CEBPB	chr9:136843701-136843897	Hela-S3	cervix:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
22	CEBPB	chr9:136858000-136858845	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr9:136852347-136852415	HepG2	liver:	n/a	n/a
24	CEBPB	chr9:136857190-136857515	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr9:136856519-136856548	HepG2	liver:	n/a	n/a
26	CEBPB	chr9:136843621-136844011	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
27	CEBPB	chr9:136843621-136844071	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
28	CEBPB	chr9:136843653-136843978	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
29	CEBPB	chr9:136843611-136844062	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
30	CEBPB	chr9:136856052-136856100	HepG2	liver:	n/a	n/a
31	CEBPB	chr9:136858175-136858310	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr9:136856033-136856632	Hela-S3	cervix:	n/a	n/a
33	CEBPD	chr9:136843670-136843997	HepG2	liver:	n/a	n/a
34	CEBPD	chr9:136858491-136858779	HepG2	liver:	n/a	n/a
35	CEBPD	chr9:136857224-136858245	HepG2	liver:	n/a	n/a
36	CEBPD	chr9:136843655-136844044	HepG2	liver:	n/a	n/a
37	CHD1	chr9:136858037-136858270	GM12878	blood:	n/a	n/a
38	CHD1	chr9:136857138-136857719	GM12878	blood:	n/a	n/a
39	CHD1	chr9:136856298-136856917	GM12878	blood:	n/a	n/a
40	CHD1	chr9:136854949-136855189	GM12878	blood:	n/a	n/a
41	CHD1	chr9:136856264-136856393	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr9:136855043-136855094	GM12878	blood:	n/a	n/a
43	CHD2	chr9:136858121-136858164	K562	blood:	n/a	n/a
44	CHD2	chr9:136843745-136844306	HepG2	liver:	n/a	n/a
45	CHD2	chr9:136857297-136857649	GM12878	blood:	n/a	n/a
46	CHD2	chr9:136856898-136856914	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr9:136857187-136858328	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr9:136858047-136858683	GM12878	blood:	n/a	n/a
49	CHD2	chr9:136856069-136856535	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr9:136858072-136858265	H1-hESC	embryonic stem cell:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136842323-136842373	AG09309	skin:	n/a
2	chr9:136844397-136844447	NHBE	bronchial:	n/a
3	chr9:136842323-136842373	AG09309	skin:	n/a
4	chr9:136844397-136844447	NHBE	bronchial:	n/a
5	chr9:136857190-136857240	PANC-1	pancreas:	n/a
6	chr9:136844768-136844818	BJ	skin:	n/a
7	chr9:136857244-136857294	GM19239	blood:	n/a
8	chr9:136844397-136844447	SK-N-SH_RA	brain:	n/a
9	chr9:136858163-136858213	NT2-D1	testis:	n/a
10	chr9:136857244-136857294	SK-N-MC	brain:	n/a
11	chr9:136842323-136842373	SK-N-MC	brain:	n/a
12	chr9:136858163-136858213	ECC-1	luminal epithelium:	n/a
13	chr9:136858308-136858358	AoSMC	blood vessel:	n/a
14	chr9:136856352-136856402	GM19239	blood:	n/a
15	chr9:136844768-136844818	SAEC	small airway:	n/a
16	chr9:136847709-136847759	MCF10A-Er-Src	breast:	n/a
17	chr9:136844768-136844818	HCPEpiC	choroid plexus:	n/a
18	chr9:136847709-136847759	NH-A	brain:	n/a
19	chr9:136844397-136844447	BJ	skin:	n/a
20	chr9:136858163-136858213	HCT-116	colon:	n/a
21	chr9:136857190-136857240	HIPEpiC	eye:	n/a
22	chr9:136858163-136858213	Hela-S3	cervix:	n/a
23	chr9:136856352-136856402	T-47D	breast:	n/a
24	chr9:136845816-136845866	GM12891	blood:	n/a
25	chr9:136844644-136844694	NT2-D1	testis:	n/a
26	chr9:136845816-136845866	SAEC	small airway:	n/a
27	chr9:136844768-136844818	HNPCEpiC	eye:	n/a
28	chr9:136858163-136858213	HCF	heart:	n/a
29	chr9:136856352-136856402	AG10803	skin:	n/a
30	chr9:136858308-136858358	NHBE	bronchial:	n/a
31	chr9:136844768-136844818	K562	blood:	n/a
32	chr9:136856435-136856485	H1-hESC	embryonic stem cell:	embryo
33	chr9:136857190-136857240	GM19239	blood:	n/a
34	chr9:136845816-136845866	AoSMC	blood vessel:	n/a
35	chr9:136844644-136844694	HCPEpiC	choroid plexus:	n/a
36	chr9:136847709-136847759	ovcar-3	ovarian:	n/a
37	chr9:136847709-136847759	AG09319	gingival:	n/a
38	chr9:136857244-136857294	AG10803	skin:	n/a
39	chr9:136857190-136857240	HEEpiC	esophagus:	n/a
40	chr9:136856352-136856402	PFSK-1	brain:	n/a
41	chr9:136856435-136856485	AG04450	lung:	fetal
42	chr9:136858308-136858358	IMR90	lung:	fetal
43	chr9:136845816-136845866	NT2-D1	testis:	n/a
44	chr9:136844768-136844818	IMR90	lung:	fetal
45	chr9:136845816-136845866	PANC-1	pancreas:	n/a
46	chr9:136855902-136855952	ECC-1	luminal epithelium:	n/a
47	chr9:136845816-136845866	U87	brain:	n/a
48	chr9:136856352-136856402	GM12891	blood:	n/a
49	chr9:136856435-136856485	SK-N-SH	brain:	n/a
50	chr9:136857244-136857294	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:
2	chr9:136840615..136846826-chr9:136854892..136859021,10	MCF-7	breast:
3	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
4	chr9:136657344..136658870-chr9:136843564..136845093,2	K562	blood:
5	chr9:136821904..136824368-chr9:136852633..136855112,2	MCF-7	breast:
6	chr9:136656846..136660173-chr9:136849456..136851758,3	MCF-7	breast:
7	chr1:16678857..16679483-chr9:136857773..136858655,2	Hela-S3	cervix:
8	chr9:136827453..136828973-chr9:136850064..136852455,2	MCF-7	breast:
9	chr9:136608029..136608531-chr9:136858192..136859169,2	MCF-7	breast:
10	chr9:136802379..136804423-chr9:136852709..136855178,2	MCF-7	breast:
11	chr9:136217971..136219533-chr9:136857799..136859450,2	MCF-7	breast:
12	chr9:136840954..136843930-chr9:136846251..136850265,3	K562	blood:
13	chr22:43010797..43011769-chr9:136856743..136857657,2	Hela-S3	cervix:
14	chr9:136372726..136374611-chr9:136854336..136856756,2	MCF-7	breast:
15	chr9:136849949..136852879-chr9:136857069..136859221,2	K562	blood:
16	chr9:136824147..136826582-chr9:136846037..136848091,2	MCF-7	breast:
17	chr7:26239812..26240720-chr9:136846541..136847167,2	Hela-S3	cervix:
18	chr17:41465782..41466571-chr9:136857818..136858531,2	Hela-S3	cervix:
19	chr9:136839997..136844319-chr9:136851053..136854251,5	MCF-7	breast:
20	chr9:136839997..136844319-chr9:136851053..136854251,5	MCF-7	breast:
21	chr9:136683788..136685445-chr9:136846019..136848764,2	MCF-7	breast:
22	chr17:7387387..7388059-chr9:136856964..136857786,2	Hela-S3	cervix:
23	chr9:136790195..136791923-chr9:136853934..136856006,2	MCF-7	breast:
24	chr9:136840954..136843930-chr9:136846251..136850265,3	K562	blood:
25	chr9:136657461..136661655-chr9:136857893..136859866,4	K562	blood:
26	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
27	chr9:136679694..136681677-chr9:136851207..136853977,2	MCF-7	breast:
28	chr9:136841663..136844202-chr9:136856477..136858166,2	K562	blood:
29	chr9:136856335..136860882-chr9:136888369..136892368,8	MCF-7	breast:
30	chr20:48329316..48329843-chr9:136855861..136856467,2	Hela-S3	cervix:
31	chr9:136844757..136847399-chr9:136850001..136852495,3	MCF-7	breast:
32	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
33	chr9:136647156..136647722-chr9:136857760..136858312,2	MCF-7	breast:
34	chr9:136657412..136658751-chr9:136858523..136860164,12	K562	blood:
35	chr9:136657888..136659088-chr9:136857891..136858693,4	MCF-7	breast:
36	chr9:136667141..136668984-chr9:136855421..136857150,2	MCF-7	breast:
37	chr9:136739328..136742123-chr9:136841796..136845434,3	MCF-7	breast:
38	chr9:136834881..136836986-chr9:136842097..136843877,2	MCF-7	breast:
39	chr9:136835959..136838306-chr9:136857880..136859486,2	MCF-7	breast:
40	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
41	chr9:136751034..136753056-chr9:136851311..136853643,2	MCF-7	breast:
42	chr9:123868745..123871334-chr9:136846046..136848204,2	MCF-7	breast:
43	chr9:136836160..136840287-chr9:136840459..136843890,5	MCF-7	breast:
44	chr17:58677435..58680394-chr9:136857896..136860386,2	MCF-7	breast:
45	chr17:56084236..56085114-chr9:136858119..136858641,2	Hela-S3	cervix:
46	chr9:136746415..136748463-chr9:136851208..136853267,2	MCF-7	breast:
47	chr9:136738035..136740400-chr9:136850110..136852807,2	MCF-7	breast:
48	chr9:136657265..136659232-chr9:136854243..136855846,2	K562	blood:
49	chr9:136704214..136705885-chr9:136852760..136855283,2	MCF-7	breast:
50	chr9:136844757..136847399-chr9:136850001..136852495,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-7	chr9:136857728-136861324	NONHSAT135347

No data

Variant related genes	Relation type
VAV2	TF binding region
VAV2	CpG island
ENSG00000037637	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000055070	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000235106	chromatin interactions
ENSG00000160293	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000123453	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 755 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs625958	chr9:136842109-136842110	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548860507	chr9:136842119-136842120	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577199810	chr9:136842122-136842123	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183070732	chr9:136842129-136842130	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145109267	chr9:136842147-136842148	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113594887	chr9:136842166-136842167	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147581358	chr9:136842203-136842204	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542762531	chr9:136842208-136842209	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7024367	chr9:136842215-136842216	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528335755	chr9:136842229-136842230	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187491097	chr9:136842235-136842236	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs625083	chr9:136842307-136842308	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533330060	chr9:136842318-136842319	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367948163	chr9:136842320-136842321	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115212557	chr9:136842334-136842335	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537143927	chr9:136842338-136842339	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549493217	chr9:136842341-136842342	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567502281	chr9:136842345-136842346	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534918342	chr9:136842355-136842356	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372133257	chr9:136842357-136842358	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552974324	chr9:136842358-136842359	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577934683	chr9:136842359-136842360	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76843238	chr9:136842389-136842390	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73662356	chr9:136842403-136842404	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544875646	chr9:136842407-136842408	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575243107	chr9:136842417-136842418	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191217955	chr9:136842435-136842436	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564692953	chr9:136842436-136842437	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561073792	chr9:136842437-136842438	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573045704	chr9:136842456-136842457	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368932306	chr9:136842480-136842481	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145889275	chr9:136842488-136842489	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78817726	chr9:136842537-136842538	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111903395	chr9:136842539-136842540	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543478896	chr9:136842542-136842543	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149004565	chr9:136842550-136842551	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77221761	chr9:136842646-136842647	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375378560	chr9:136842647-136842648	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549190064	chr9:136842649-136842650	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77503893	chr9:136842678-136842679	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534856612	chr9:136842681-136842682	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145051759	chr9:136842693-136842694	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546802505	chr9:136842716-136842717	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529250890	chr9:136842721-136842722	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370174854	chr9:136842781-136842782	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557676671	chr9:136842800-136842801	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549392937	chr9:136842819-136842820	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113381761	chr9:136842853-136842854	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143674530	chr9:136842911-136842912	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554670214	chr9:136842969-136842970	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	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	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	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
low-grade B-cell lymphoma tumor	18367492	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
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136832400-136842400	Enhancers	Primary B cells from peripheral blood	blood
2	chr9:136832600-136843800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:136832800-136844200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:136835200-136848600	Enhancers	Fetal Intestine Large	intestine
5	chr9:136835400-136848800	Genic enhancers	Fetal Intestine Small	intestine
6	chr9:136835800-136854800	Weak transcription	A549	lung
7	chr9:136836800-136843800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:136836800-136844000	Weak transcription	NHDF-Ad	bronchial
9	chr9:136837200-136842400	Weak transcription	NHLF	lung
10	chr9:136837400-136851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:136837400-136854800	Weak transcription	HMEC	breast
12	chr9:136837600-136845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:136837600-136845000	Weak transcription	Fetal Kidney	kidney
14	chr9:136837800-136844000	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:136837800-136850600	Weak transcription	NHEK	skin
16	chr9:136838000-136854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:136839000-136844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:136839000-136844000	Weak transcription	Esophagus	oesophagus
19	chr9:136839000-136844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:136839000-136844400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:136839200-136843400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:136839200-136843800	Weak transcription	Small Intestine	intestine
23	chr9:136839600-136843000	Weak transcription	Fetal Brain Male	brain
24	chr9:136839600-136843200	Weak transcription	Brain Germinal Matrix	brain
25	chr9:136839600-136844000	Weak transcription	Left Ventricle	heart
26	chr9:136839600-136844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:136839600-136844200	Weak transcription	Brain Anterior Caudate	brain
28	chr9:136839600-136844800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:136839800-136843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:136839800-136844000	Weak transcription	Adipose Nuclei	Adipose
31	chr9:136839800-136844000	Weak transcription	Gastric	stomach
32	chr9:136839800-136844200	Weak transcription	Fetal Brain Female	brain
33	chr9:136839800-136844200	Weak transcription	HUVEC	blood vessel
34	chr9:136840000-136842200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:136840000-136843200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:136840000-136854800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:136840200-136843600	Weak transcription	Right Ventricle	heart
38	chr9:136840200-136844000	Weak transcription	Right Atrium	heart
39	chr9:136840200-136844600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:136840200-136845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:136840400-136843000	Weak transcription	Spleen	Spleen
42	chr9:136840400-136843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:136840400-136843800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:136840400-136854800	Weak transcription	Hela-S3	cervix
45	chr9:136840600-136842400	Weak transcription	Lung	lung
46	chr9:136840800-136842200	Weak transcription	Liver	Liver
47	chr9:136840800-136842400	Weak transcription	Primary B cells from cord blood	blood
48	chr9:136840800-136844200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:136840800-136852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:136841400-136843400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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