Variant report

Variant	nsv2695
Chromosome Location	chr2:39643221-39688015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1059)
CpG islands
(count:795)
Chromatin interactive
region (count:77)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1059 , 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	chr2:39663932-39665347	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:39676600-39676804	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:39666780-39667205	K562	blood:	n/a	n/a
4	ARID3A	chr2:39644652-39644935	K562	blood:	n/a	n/a
5	ARID3A	chr2:39675307-39675654	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:39660791-39661256	K562	blood:	n/a	n/a
7	ARID3A	chr2:39649896-39650207	K562	blood:	n/a	n/a
8	ARID3A	chr2:39655427-39655445	K562	blood:	n/a	n/a
9	ARID3A	chr2:39662503-39662683	K562	blood:	n/a	n/a
10	ATF1	chr2:39666754-39667216	K562	blood:	n/a	n/a
11	ATF3	chr2:39670188-39670489	K562	blood:	n/a	n/a
12	BACH1	chr2:39665005-39665247	K562	blood:	n/a	n/a
13	BACH1	chr2:39652252-39652588	H1-hESC	embryonic stem cell:	n/a	chr2:39652349-39652363
14	BACH1	chr2:39664877-39665245	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:39652268-39652536	K562	blood:	n/a	chr2:39652349-39652363
16	BACH1	chr2:39663831-39664084	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr2:39664316-39664621	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr2:39664323-39665452	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:39663728-39665582	K562	blood:	n/a	chr2:39664284-39664300 chr2:39664214-39664230
20	BHLHE40	chr2:39666675-39667159	K562	blood:	n/a	n/a
21	BHLHE40	chr2:39664319-39665480	HepG2	liver:	n/a	n/a
22	BRCA1	chr2:39664789-39664849	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:39667041-39667085	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:39663946-39664071	GM12878	blood:	n/a	n/a
25	BRCA1	chr2:39664308-39665474	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr2:39663405-39663419	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr2:39664210-39664877	K562	blood:	n/a	n/a
28	CBX3	chr2:39670006-39670385	K562	blood:	n/a	n/a
29	CCNT2	chr2:39666832-39667091	K562	blood:	n/a	n/a
30	CCNT2	chr2:39646897-39647227	K562	blood:	n/a	n/a
31	CCNT2	chr2:39644696-39644988	K562	blood:	n/a	n/a
32	CCNT2	chr2:39663504-39665321	K562	blood:	n/a	chr2:39664443-39664452 chr2:39663833-39663842
33	CCNT2	chr2:39660725-39660927	K562	blood:	n/a	n/a
34	CEBPB	chr2:39665089-39665606	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:39663131-39663300	K562	blood:	n/a	n/a
36	CEBPB	chr2:39675333-39675527	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:39674758-39675133	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:39670222-39670580	HepG2	liver:	n/a	chr2:39670398-39670409
39	CEBPB	chr2:39665167-39665553	A549	lung:	n/a	n/a
40	CEBPB	chr2:39666667-39667075	K562	blood:	n/a	n/a
41	CEBPB	chr2:39670250-39670525	Hela-S3	cervix:	n/a	chr2:39670398-39670409
42	CEBPB	chr2:39662497-39662669	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:39676474-39676784	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:39658839-39659295	MCF-7	breast:	n/a	chr2:39659094-39659105 chr2:39659095-39659104
45	CEBPB	chr2:39646470-39647064	IMR90	lung:	n/a	chr2:39646593-39646606 chr2:39646593-39646604 chr2:39646771-39646783
46	CEBPB	chr2:39658883-39659206	H1-hESC	embryonic stem cell:	n/a	chr2:39659094-39659105 chr2:39659095-39659104
47	CEBPB	chr2:39656331-39656373	K562	blood:	n/a	n/a
48	CEBPB	chr2:39674907-39675131	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:39658996-39659142	HepG2	liver:	n/a	chr2:39659094-39659105 chr2:39659095-39659104
50	CEBPB	chr2:39666675-39666679	HepG2	liver:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:39664348-39664398	NHDF-neo	bronchial:	n/a
2	chr2:39664131-39664181	NHBE	bronchial:	n/a
3	chr2:39664348-39664398	NHDF-neo	bronchial:	n/a
4	chr2:39664131-39664181	NHBE	bronchial:	n/a
5	chr2:39663782-39663832	AG10803	skin:	n/a
6	chr2:39660945-39660995	CMK	blood:	n/a
7	chr2:39663782-39663832	HRE	kidney:	n/a
8	chr2:39664343-39664393	ovcar-3	ovarian:	n/a
9	chr2:39664666-39664716	NHBE	bronchial:	n/a
10	chr2:39668590-39668640	GM12891	blood:	n/a
11	chr2:39664666-39664716	H1-hESC	embryonic stem cell:	embryo
12	chr2:39664343-39664393	RPTEC	kidney:	n/a
13	chr2:39664666-39664716	U87	brain:	n/a
14	chr2:39664335-39664385	LNCaP	prostate:	n/a
15	chr2:39663782-39663832	AG04449	skin:	fetal
16	chr2:39668590-39668640	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:39665105-39665155	HRE	kidney:	n/a
18	chr2:39664666-39664716	HCM	heart:	n/a
19	chr2:39665105-39665155	IMR90	lung:	fetal
20	chr2:39664131-39664181	MCF-7	breast:	n/a
21	chr2:39645955-39646005	HEK293	kidney:	embryo
22	chr2:39645955-39646005	NHBE	bronchial:	n/a
23	chr2:39663782-39663832	HRCEpiC	kidney:	n/a
24	chr2:39664346-39664396	NHBE	bronchial:	n/a
25	chr2:39664666-39664716	HCF	heart:	n/a
26	chr2:39664969-39665019	HCF	heart:	n/a
27	chr2:39665186-39665236	AoSMC	blood vessel:	n/a
28	chr2:39660945-39660995	T-47D	breast:	n/a
29	chr2:39663782-39663832	GM12891	blood:	n/a
30	chr2:39665105-39665155	GM12892	blood:	n/a
31	chr2:39664666-39664716	NH-A	brain:	n/a
32	chr2:39664335-39664385	PrEC	prostate:	n/a
33	chr2:39664346-39664396	RPTEC	kidney:	n/a
34	chr2:39660945-39660995	HCPEpiC	choroid plexus:	n/a
35	chr2:39664346-39664396	GM19239	blood:	n/a
36	chr2:39664131-39664181	AG04450	lung:	fetal
37	chr2:39645955-39646005	HepG2	liver:	n/a
38	chr2:39664346-39664396	HCM	heart:	n/a
39	chr2:39645955-39646005	HCT-116	colon:	n/a
40	chr2:39664131-39664181	NH-A	brain:	n/a
41	chr2:39664335-39664385	BE2_C	brain:	n/a
42	chr2:39665186-39665236	ProgFib	skin:	n/a
43	chr2:39665186-39665236	HCM	heart:	n/a
44	chr2:39665105-39665155	HMEC	breast:	n/a
45	chr2:39664666-39664716	T-47D	breast:	n/a
46	chr2:39665105-39665155	NHDF-neo	bronchial:	n/a
47	chr2:39660945-39660995	AG04449	skin:	fetal
48	chr2:39664346-39664396	MCF10A-Er-Src	breast:	n/a
49	chr2:39665186-39665236	HUVEC	blood vessel:	n/a
50	chr2:39664346-39664396	GM06990	blood:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:39539961..39541586-chr2:39667193..39669640,2	K562	blood:
2	chr2:39664238..39664817-chr6:111136840..111137728,2	Hela-S3	cervix:
3	chr2:39642838..39645450-chr2:39657928..39659607,2	K562	blood:
4	chr2:39646458..39648689-chr2:39648799..39652101,4	K562	blood:
5	chr2:39608927..39611189-chr2:39667171..39668738,2	K562	blood:
6	chr2:39652432..39656926-chr2:39657241..39661273,4	MCF-7	breast:
7	chr2:39655304..39658022-chr2:39658367..39662517,3	K562	blood:
8	chr2:39684833..39686565-chr2:39689328..39692216,2	MCF-7	breast:
9	chr2:39651403..39653951-chr2:39655387..39658790,4	K562	blood:
10	chr2:39669445..39671277-chr2:39681735..39683817,2	K562	blood:
11	chr2:39655304..39658022-chr2:39658367..39662517,3	K562	blood:
12	chr2:39676819..39680637-chr2:39680981..39683418,4	K562	blood:
13	chr2:39655176..39658174-chr2:39672805..39675633,2	K562	blood:
14	chr2:39647976..39656890-chr2:39661783..39666548,15	MCF-7	breast:
15	chr2:39673697..39675458-chr2:39682024..39684470,2	MCF-7	breast:
16	chr2:39678426..39680083-chr2:39696390..39697940,2	MCF-7	breast:
17	chr2:39613441..39616248-chr2:39657678..39659490,2	MCF-7	breast:
18	chr2:39647003..39648526-chr2:39663510..39665031,2	K562	blood:
19	chr2:39642838..39645450-chr2:39657928..39659607,2	K562	blood:
20	chr2:39651403..39653951-chr2:39655387..39658790,4	K562	blood:
21	chr1:149858090..149858876-chr2:39664075..39665067,2	Hela-S3	cervix:
22	chr2:39654384..39656809-chr2:39659803..39661309,2	MCF-7	breast:
23	chr2:39601552..39609752-chr2:39662569..39667062,10	MCF-7	breast:
24	chr2:39654384..39656809-chr2:39659803..39661309,2	MCF-7	breast:
25	chr2:39647003..39648741-chr2:39663510..39666344,3	K562	blood:
26	chr2:39637044..39640702-chr2:39646028..39648764,3	K562	blood:
27	chr2:39675054..39675789-chr2:39693150..39694137,5	MCF-7	breast:
28	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
29	chr2:39654637..39656374-chr2:39657864..39660833,3	K562	blood:
30	chr2:39654637..39656374-chr2:39657864..39660833,3	K562	blood:
31	chr2:39663630..39666282-chr2:39671962..39674914,3	K562	blood:
32	chr2:39646458..39648689-chr2:39648799..39652101,4	K562	blood:
33	chr2:39655176..39658174-chr2:39672805..39675633,2	K562	blood:
34	chr2:39673263..39677123-chr2:39692250..39696646,6	MCF-7	breast:
35	chr2:39666476..39669114-chr2:39673200..39674751,2	K562	blood:
36	chr2:39668408..39675131-chr2:39676739..39679699,8	K562	blood:
37	chr2:39661305..39663930-chr2:39740460..39742003,2	MCF-7	breast:
38	chr2:39680725..39683099-chr2:39684790..39686742,2	MCF-7	breast:
39	chr2:39653965..39656375-chr2:39663851..39666207,4	K562	blood:
40	chr2:39642094..39644271-chr2:39644504..39647283,3	K562	blood:
41	chr2:39619324..39621910-chr2:39662875..39665257,2	K562	blood:
42	chr2:39663884..39664565-chr6:26199044..26199597,2	Hela-S3	cervix:
43	chr2:39663101..39666745-chr2:39668624..39671198,3	MCF-7	breast:
44	chr2:39652432..39656926-chr2:39657241..39661273,4	MCF-7	breast:
45	chr2:39643905..39646272-chr2:39657496..39659810,2	MCF-7	breast:
46	chr2:39661430..39663106-chr2:39773041..39775918,2	MCF-7	breast:
47	chr2:39669445..39671277-chr2:39681735..39683817,2	K562	blood:
48	chr2:39652451..39655493-chr2:39655687..39657617,3	K562	blood:
49	chr2:39643804..39646063-chr2:39663666..39665517,2	MCF-7	breast:
50	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-1	chr2:39681438-39681867	ENSG00000231312.2
2	lnc-TMEM178-1	chr2:39664295-39664676	NONHSAT070232
3	lnc-TMEM178-1	chr2:39681438-39681506	ENSG00000231312.2
4	lnc-TMEM178-1	chr2:39681438-39681506	ENSG00000231312.2
5	lnc-TMEM178-1	chr2:39681457-39681506	NONHSAT070241
6	lnc-TMEM178-1	chr2:39681460-39681506	NONHSAT070243
7	lnc-TMEM178-1	chr2:39664543-39664676	ENSG00000231312.2
8	lnc-TMEM178-1	chr2:39681460-39681506	NONHSAT070242
9	lnc-TMEM178-4	chr2:39680010-39680916	l_1814_chr2:39518006-39558253_76bGuttman_hLF
10	lnc-TMEM178-1	chr2:39664572-39664676	ENSG00000231312.2
11	lnc-TMEM178-4	chr2:39665403-39665454	l_1814_chr2:39518006-39558253_76bGuttman_hLF
12	lnc-TMEM178-1	chr2:39680980-39681072	ENSG00000231312.2
13	lnc-TMEM178-1	chr2:39681438-39681506	ENSG00000231312.2
14	lnc-TMEM178-1	chr2:39681438-39681506	NONHSAT070239
15	lnc-TMEM178-1	chr2:39681438-39681506	ENSG00000231312.2
16	lnc-TMEM178-1	chr2:39680980-39681072	ENSG00000231312.2
17	lnc-TMEM178-4	chr2:39669161-39669211	l_1814_chr2:39518006-39558253_76bGuttman_hLF
18	lnc-TMEM178-1	chr2:39663778-39663829	ENSG00000231312.2
19	lnc-TMEM178-1	chr2:39681440-39681506	NONHSAT070240
20	lnc-TMEM178-1	chr2:39680980-39681072	ENSG00000231312.2
21	lnc-TMEM178-1	chr2:39680981-39681065	NONHSAT070232
22	lnc-TMEM178-1	chr2:39680980-39681072	ENSG00000231312.2
23	lnc-TMEM178-1	chr2:39664510-39664676	ENSG00000231312.2
24	lnc-TMEM178-1	chr2:39681063-39681072	ENSG00000231312.2

No data

Variant related genes	Relation type
MAP4K3	TF binding region
ENSG00000231312	TF binding region
MAP4K3	CpG island
ENSG00000231312	CpG island
ENSG00000011566	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000231312	chromatin interactions
ENSG00000224505	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000252239	chromatin interactions
ENSG00000138050	chromatin interactions
ENSG00000168517	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000155111	chromatin interactions

Extended variants
information (count: 1755 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13424570	chr2:39643307-39643308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567327716	chr2:39643312-39643313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527587423	chr2:39643315-39643316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191977423	chr2:39643333-39643334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13424588	chr2:39643360-39643361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144849524	chr2:39643372-39643373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570646641	chr2:39643377-39643378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530240023	chr2:39643434-39643435	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74586184	chr2:39643448-39643449	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556064178	chr2:39643534-39643535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548852984	chr2:39643577-39643578	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536315765	chr2:39643582-39643583	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575054608	chr2:39643587-39643588	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554568382	chr2:39643609-39643610	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75257313	chr2:39643626-39643627	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184241309	chr2:39643636-39643637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75399207	chr2:39643679-39643680	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75745042	chr2:39643685-39643686	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186627674	chr2:39643783-39643784	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537029172	chr2:39643819-39643820	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544817449	chr2:39643833-39643834	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191426783	chr2:39643900-39643901	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551921638	chr2:39643912-39643913	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541899350	chr2:39643930-39643931	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182461574	chr2:39643949-39643950	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369538046	chr2:39643966-39643967	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551883224	chr2:39643992-39643993	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147939337	chr2:39644028-39644029	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373247075	chr2:39644071-39644072	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531493140	chr2:39644086-39644087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552964045	chr2:39644133-39644134	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs4670934	chr2:39644134-39644135	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187099316	chr2:39644174-39644175	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs536346657	chr2:39644181-39644182	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs193024255	chr2:39644243-39644244	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs185171452	chr2:39644250-39644251	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs372411775	chr2:39644291-39644292	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs115374774	chr2:39644356-39644357	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs534387800	chr2:39644361-39644362	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs75313246	chr2:39644370-39644371	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs552655174	chr2:39644371-39644372	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs77048228	chr2:39644373-39644374	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs190416673	chr2:39644392-39644393	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566615951	chr2:39644430-39644431	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534244153	chr2:39644431-39644432	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs12328714	chr2:39644453-39644454	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577499159	chr2:39644462-39644463	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs12328727	chr2:39644510-39644511	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556818163	chr2:39644519-39644520	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs372808548	chr2:39644522-39644523	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:1820 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:39632400-39643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39633000-39644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:39634600-39643800	Weak transcription	Fetal Brain Female	brain
7	chr2:39635000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:39635600-39643400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:39636600-39651400	Weak transcription	Fetal Thymus	thymus
10	chr2:39637200-39647000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:39637600-39643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:39637600-39651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:39638800-39644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
16	chr2:39639000-39649000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:39639200-39643400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:39639200-39644800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
20	chr2:39639400-39643800	Weak transcription	Stomach Mucosa	stomach
21	chr2:39639400-39644000	Weak transcription	Fetal Kidney	kidney
22	chr2:39639600-39643400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:39639600-39646800	Weak transcription	Fetal Lung	lung
24	chr2:39639600-39657200	Weak transcription	HMEC	breast
25	chr2:39640200-39643600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:39640600-39647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:39640800-39643400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:39640800-39643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:39640800-39644800	Weak transcription	Pancreas	Pancrea
30	chr2:39640800-39645000	Weak transcription	Gastric	stomach
31	chr2:39640800-39647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:39640800-39647000	Weak transcription	Spleen	Spleen
33	chr2:39640800-39649200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:39640800-39652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:39640800-39656800	Weak transcription	NH-A	brain
36	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:39641000-39643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:39641000-39643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:39641000-39643400	Weak transcription	Right Ventricle	heart
40	chr2:39641000-39643400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:39641000-39643400	Weak transcription	Osteobl	bone
42	chr2:39641000-39643600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:39641000-39643600	Weak transcription	GM12878-XiMat	blood
44	chr2:39641000-39643800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:39641000-39644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:39641000-39644800	Weak transcription	Small Intestine	intestine
47	chr2:39641000-39645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:39641000-39645200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:39641000-39645400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:39641000-39645600	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links