Variant report

Variant	nsv874201
Chromosome Location	chr2:58269871-58350504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1599)
CpG islands
(count:854)
Chromatin interactive
region (count:89)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1599 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:58275147-58275555	K562	blood:	n/a	n/a
2	ARID3A	chr2:58349134-58349393	K562	blood:	n/a	n/a
3	ARID3A	chr2:58269703-58270289	K562	blood:	n/a	n/a
4	ARID3A	chr2:58269485-58270320	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:58349718-58350162	K562	blood:	n/a	n/a
6	ARID3A	chr2:58274524-58274845	K562	blood:	n/a	n/a
7	ARID3A	chr2:58274351-58274606	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:58273306-58274073	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:58273475-58273827	K562	blood:	n/a	n/a
10	ATF1	chr2:58326199-58326377	K562	blood:	n/a	n/a
11	ATF1	chr2:58349793-58349981	K562	blood:	n/a	n/a
12	ATF2	chr2:58273543-58273936	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:58291254-58291737	GM12878	blood:	n/a	n/a
14	ATF2	chr2:58273591-58274622	GM12878	blood:	n/a	n/a
15	ATF2	chr2:58273259-58274611	GM12878	blood:	n/a	n/a
16	ATF2	chr2:58273465-58273895	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr2:58269482-58270107	A549	lung:	n/a	n/a
18	ATF3	chr2:58334850-58335570	A549	lung:	n/a	n/a
19	ATF3	chr2:58273198-58274621	A549	lung:	n/a	chr2:58274318-58274327
20	ATF3	chr2:58273529-58274361	A549	lung:	n/a	chr2:58274318-58274327
21	BACH1	chr2:58273578-58273670	K562	blood:	n/a	n/a
22	BACH1	chr2:58274292-58274456	K562	blood:	n/a	n/a
23	BACH1	chr2:58269708-58270007	K562	blood:	n/a	chr2:58269957-58269971
24	BATF	chr2:58282449-58282629	GM12878	blood:	n/a	n/a
25	BATF	chr2:58291311-58291590	GM12878	blood:	n/a	n/a
26	BATF	chr2:58282381-58282737	GM12878	blood:	n/a	n/a
27	BATF	chr2:58269775-58270035	GM12878	blood:	n/a	n/a
28	BATF	chr2:58291339-58291589	GM12878	blood:	n/a	n/a
29	BATF	chr2:58347807-58348019	GM12878	blood:	n/a	chr2:58347917-58347928
30	BCL11A	chr2:58291351-58291587	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:58291274-58291566	GM12878	blood:	n/a	n/a
32	BCL3	chr2:58333748-58336090	A549	lung:	n/a	chr2:58334496-58334505
33	BCL3	chr2:58325338-58326074	A549	lung:	n/a	n/a
34	BCL3	chr2:58273488-58274697	GM12878	blood:	n/a	chr2:58273827-58273840 chr2:58274058-58274071 chr2:58274642-58274655 chr2:58274414-58274423 chr2:58273969-58273982 chr2:58273720-58273728 chr2:58274646-58274659 chr2:58274412-58274425
35	BCL3	chr2:58273263-58274701	A549	lung:	n/a	chr2:58273827-58273840 chr2:58274058-58274071 chr2:58274642-58274655 chr2:58274414-58274423 chr2:58273969-58273982 chr2:58273720-58273728 chr2:58274646-58274659 chr2:58274412-58274425
36	BCL3	chr2:58273277-58274483	A549	lung:	n/a	chr2:58273827-58273840 chr2:58274058-58274071 chr2:58274414-58274423 chr2:58273969-58273982 chr2:58273720-58273728 chr2:58274412-58274425
37	BCL3	chr2:58339060-58340194	A549	lung:	n/a	n/a
38	BCL3	chr2:58334690-58335953	A549	lung:	n/a	n/a
39	BCLAF1	chr2:58273191-58275066	GM12878	blood:	n/a	chr2:58273827-58273840 chr2:58274058-58274071 chr2:58274642-58274655 chr2:58274414-58274423 chr2:58273969-58273982 chr2:58273720-58273728 chr2:58274646-58274659 chr2:58274412-58274425
40	BCLAF1	chr2:58273308-58274703	GM12878	blood:	n/a	chr2:58273827-58273840 chr2:58274058-58274071 chr2:58274642-58274655 chr2:58274414-58274423 chr2:58273969-58273982 chr2:58273720-58273728 chr2:58274646-58274659 chr2:58274412-58274425
41	BHLHE40	chr2:58273456-58274936	K562	blood:	n/a	chr2:58274401-58274417 chr2:58274407-58274423 chr2:58273800-58273816
42	BHLHE40	chr2:58326722-58326780	K562	blood:	n/a	n/a
43	BHLHE40	chr2:58272418-58272444	K562	blood:	n/a	n/a
44	BHLHE40	chr2:58273446-58274580	HepG2	liver:	n/a	chr2:58274401-58274417 chr2:58274407-58274423 chr2:58273800-58273816
45	BHLHE40	chr2:58273380-58274728	GM12878	blood:	n/a	chr2:58274401-58274417 chr2:58274407-58274423 chr2:58273800-58273816
46	BHLHE40	chr2:58269519-58269925	K562	blood:	n/a	n/a
47	BRCA1	chr2:58334988-58335562	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr2:58340807-58340908	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr2:58339914-58340205	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr2:58272711-58272730	Hela-S3	cervix:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:58274321-58274371	MCF10A-Er-Src	breast:	n/a
2	chr2:58335008-58335058	Hela-S3	cervix:	n/a
3	chr2:58335008-58335058	ECC-1	luminal epithelium:	n/a
4	chr2:58274321-58274371	HRCEpiC	kidney:	n/a
5	chr2:58273552-58273602	HEK293	kidney:	embryo
6	chr2:58272914-58272964	K562	blood:	n/a
7	chr2:58273438-58273488	Jurkat	blood:	n/a
8	chr2:58274321-58274371	Jurkat	blood:	n/a
9	chr2:58273420-58273470	HCM	heart:	n/a
10	chr2:58273683-58273733	SK-N-SH_RA	brain:	n/a
11	chr2:58274059-58274109	HL-60	blood:	n/a
12	chr2:58274524-58274574	HRE	kidney:	n/a
13	chr2:58274034-58274084	SK-N-SH_RA	brain:	n/a
14	chr2:58273683-58273733	SK-N-MC	brain:	n/a
15	chr2:58284130-58284180	K562	blood:	n/a
16	chr2:58273683-58273733	SKMC	muscle:	n/a
17	chr2:58272914-58272964	HCF	heart:	n/a
18	chr2:58335008-58335058	PrEC	prostate:	n/a
19	chr2:58273438-58273488	HL-60	blood:	n/a
20	chr2:58273552-58273602	HCF	heart:	n/a
21	chr2:58273643-58273693	A549	lung:	n/a
22	chr2:58273643-58273693	HRCEpiC	kidney:	n/a
23	chr2:58274421-58274471	AG09319	gingival:	n/a
24	chr2:58284130-58284180	AG10803	skin:	n/a
25	chr2:58272914-58272964	A549	lung:	n/a
26	chr2:58274421-58274471	GM12891	blood:	n/a
27	chr2:58273420-58273470	HMEC	breast:	n/a
28	chr2:58335008-58335058	K562	blood:	n/a
29	chr2:58274059-58274109	Hela-S3	cervix:	n/a
30	chr2:58274321-58274371	HL-60	blood:	n/a
31	chr2:58274524-58274574	AG09309	skin:	n/a
32	chr2:58274524-58274574	H1-hESC	embryonic stem cell:	embryo
33	chr2:58273420-58273470	SK-N-SH_RA	brain:	n/a
34	chr2:58274321-58274371	HUVEC	blood vessel:	n/a
35	chr2:58274034-58274084	HRPEpiC	eye:	n/a
36	chr2:58273643-58273693	PANC-1	pancreas:	n/a
37	chr2:58274321-58274371	AG09309	skin:	n/a
38	chr2:58273420-58273470	NHDF-neo	bronchial:	n/a
39	chr2:58284130-58284180	GM12892	blood:	n/a
40	chr2:58273420-58273470	GM12891	blood:	n/a
41	chr2:58273552-58273602	HCPEpiC	choroid plexus:	n/a
42	chr2:58274524-58274574	NT2-D1	testis:	n/a
43	chr2:58273420-58273470	GM12878	blood:	n/a
44	chr2:58274524-58274574	HIPEpiC	eye:	n/a
45	chr2:58274034-58274084	HEK293	kidney:	embryo
46	chr2:58284130-58284180	HEEpiC	esophagus:	n/a
47	chr2:58274524-58274574	HAEpiC	amniotic membrane:	n/a
48	chr2:58274421-58274471	A549	lung:	n/a
49	chr2:58273420-58273470	CMK	blood:	n/a
50	chr2:58273420-58273470	U87	brain:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56509847..56510502-chr2:58274105..58274747,2	Hela-S3	cervix:
2	chr2:58328189..58330016-chr2:58335777..58337900,2	K562	blood:
3	chr2:58258901..58260862-chr2:58271685..58273683,2	K562	blood:
4	chr16:67906864..67907788-chr2:58274224..58274845,2	Hela-S3	cervix:
5	chr14:35344163..35344999-chr2:58273588..58274207,2	Hela-S3	cervix:
6	chr2:58338383..58340006-chr2:58352546..58354992,2	K562	blood:
7	chr2:58288525..58290696-chr2:58296073..58298734,2	K562	blood:
8	chr2:58273263..58275432-chr2:58322196..58325090,2	MCF-7	breast:
9	chr2:58291116..58293259-chr2:58298631..58301133,2	K562	blood:
10	chr2:58238094..58240587-chr2:58270384..58272042,2	MCF-7	breast:
11	chr2:58259305..58261530-chr2:58312995..58315728,2	MCF-7	breast:
12	chr2:58327413..58329315-chr2:58335366..58337624,2	MCF-7	breast:
13	chr2:58337270..58338866-chr2:58352750..58354889,2	K562	blood:
14	chr2:58304898..58306855-chr2:58308067..58311851,3	K562	blood:
15	chr17:61904581..61905298-chr2:58273505..58274290,2	Hela-S3	cervix:
16	chr2:58281941..58283918-chr2:58310687..58313540,2	K562	blood:
17	chr16:2204700..2205554-chr2:58273658..58274164,2	Hela-S3	cervix:
18	chr2:58281941..58283918-chr2:58310687..58313540,2	K562	blood:
19	chr2:58286636..58288620-chr2:58310903..58313169,2	K562	blood:
20	chr2:58350031..58352621-chr2:58354881..58357674,3	K562	blood:
21	chr2:58311779..58314572-chr2:58317224..58318941,2	MCF-7	breast:
22	chr2:58328189..58330016-chr2:58335777..58337900,2	K562	blood:
23	chr2:58307014..58309268-chr2:58311845..58314843,2	K562	blood:
24	chr17:43393612..43394484-chr2:58273805..58274733,2	Hela-S3	cervix:
25	chr2:58293383..58295997-chr2:58301536..58303833,2	K562	blood:
26	chr2:58322239..58324649-chr2:58364726..58366691,2	MCF-7	breast:
27	chr2:58291116..58293259-chr2:58298631..58301133,2	K562	blood:
28	chr2:58283606..58286439-chr2:58302901..58305141,2	K562	blood:
29	chr2:58284201..58286843-chr2:58288729..58290880,2	K562	blood:
30	chr2:58291888..58295027-chr2:58296997..58299740,3	K562	blood:
31	chr2:58332265..58336013-chr2:58347138..58350480,3	MCF-7	breast:
32	chr2:58268209..58270134-chr2:58271318..58274242,3	K562	blood:
33	chr2:58269958..58272240-chr2:58464322..58467065,2	K562	blood:
34	chr2:58272597..58275548-chr2:58309759..58311763,2	K562	blood:
35	chr2:58327413..58329315-chr2:58335366..58337624,2	MCF-7	breast:
36	chr2:58273781..58275395-chr2:58304715..58306806,2	MCF-7	breast:
37	chr16:31191342..31191940-chr2:58273579..58274532,2	Hela-S3	cervix:
38	chr2:58133060..58135151-chr2:58272508..58275235,2	MCF-7	breast:
39	chr2:58272567..58275407-chr2:58300616..58302250,2	MCF-7	breast:
40	chr2:58274150..58274738-chr5:180649715..180650670,2	Hela-S3	cervix:
41	chr2:58273852..58275893-chr2:58312639..58315544,2	K562	blood:
42	chr10:104402222..104402910-chr2:58334735..58335319,2	Hela-S3	cervix:
43	chr2:58131028..58133565-chr2:58275828..58277987,2	MCF-7	breast:
44	chr14:75535519..75536056-chr2:58274257..58274954,2	Hela-S3	cervix:
45	chr2:58133863..58138456-chr2:58272095..58275151,4	MCF-7	breast:
46	chr1:116184576..116185465-chr2:58273855..58274389,2	Hela-S3	cervix:
47	chr19:59055378..59056070-chr2:58286429..58286929,2	Hela-S3	cervix:
48	chr2:58273786..58276192-chr2:58304337..58305847,2	K562	blood:
49	chr2:58299665..58301921-chr2:58308891..58310952,2	K562	blood:
50	chr16:80574441..80574962-chr2:58273829..58274361,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-5	chr2:58285014-58285281	expReg_chr2_4451_-

No data

Variant related genes	Relation type
ENSG00000251738	TF binding region
VRK2	TF binding region
ENSG00000251738	CpG island
VRK2	CpG island
ENSG00000089280	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000020256	chromatin interactions
ENSG00000168589	chromatin interactions
ENSG00000115392	chromatin interactions
ENSG00000206630	chromatin interactions
ENSG00000173218	chromatin interactions
ENSG00000273063	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000164808	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000234545	chromatin interactions
ENSG00000251738	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000181163	chromatin interactions
ENSG00000130726	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000119703	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000028116	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000038358	chromatin interactions

Extended variants
information (count: 3247 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:3247 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6713551	chr2:58269871-58269872	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149228039	chr2:58269872-58269873	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575352401	chr2:58269887-58269888	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557939721	chr2:58269906-58269907	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577687860	chr2:58269912-58269913	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115628368	chr2:58269937-58269938	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573187297	chr2:58270001-58270002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534042931	chr2:58270048-58270049	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540663761	chr2:58270051-58270052	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554449591	chr2:58270184-58270185	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143221053	chr2:58270214-58270215	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561479219	chr2:58270238-58270239	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574005242	chr2:58270260-58270261	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551095305	chr2:58270276-58270277	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114171588	chr2:58270283-58270284	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530268720	chr2:58270305-58270306	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548857130	chr2:58270325-58270326	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370573907	chr2:58270355-58270356	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374014193	chr2:58270361-58270362	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139061830	chr2:58270363-58270364	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114724623	chr2:58270380-58270381	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537082204	chr2:58270400-58270401	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546156222	chr2:58270454-58270455	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190209213	chr2:58270456-58270457	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541752590	chr2:58270500-58270501	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371627921	chr2:58270525-58270526	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538302010	chr2:58270599-58270600	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182503742	chr2:58270604-58270605	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs72951025	chr2:58270605-58270606	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536104531	chr2:58270611-58270612	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575456363	chr2:58270682-58270683	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143063331	chr2:58270742-58270743	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573020345	chr2:58270751-58270752	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187202806	chr2:58270776-58270777	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs72951027	chr2:58270817-58270818	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565231320	chr2:58270844-58270845	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577316747	chr2:58270851-58270852	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192832235	chr2:58270861-58270862	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562885261	chr2:58270879-58270880	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530290337	chr2:58270909-58270910	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546409240	chr2:58270924-58270925	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183752616	chr2:58270961-58270962	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560756853	chr2:58270987-58270988	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs527952471	chr2:58270990-58270991	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188679437	chr2:58271103-58271104	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570869985	chr2:58271118-58271119	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147480213	chr2:58271119-58271120	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533027511	chr2:58271159-58271160	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35916987	chr2:58271167-58271168	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546754074	chr2:58271186-58271187	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1898 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
3	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
5	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:58258400-58273000	Weak transcription	Liver	Liver
7	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:58260000-58272800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:58260200-58271800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:58260400-58273400	Weak transcription	Ovary	ovary
12	chr2:58262200-58273000	Weak transcription	Psoas Muscle	Psoas
13	chr2:58263000-58272800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:58266400-58272600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:58266600-58271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:58266600-58271800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:58266600-58272000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:58266600-58272400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:58266600-58273000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:58266600-58273200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:58266800-58270800	Enhancers	HUVEC	blood vessel
22	chr2:58266800-58271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:58266800-58272000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:58266800-58272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:58266800-58273400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:58267000-58272400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:58267200-58271400	Weak transcription	Primary B cells from cord blood	blood
28	chr2:58267200-58271400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:58267200-58272400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:58268000-58270400	Enhancers	NHEK	skin
31	chr2:58268000-58272200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:58268000-58273000	Weak transcription	Aorta	Aorta
33	chr2:58268000-58273200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:58268200-58270400	Enhancers	HepG2	liver
35	chr2:58268200-58272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:58268600-58273400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:58269000-58270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:58269000-58270400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:58269000-58270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:58269000-58270400	Enhancers	Hela-S3	cervix
41	chr2:58269000-58270400	Enhancers	NH-A	brain
42	chr2:58269200-58270000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:58269200-58270200	Enhancers	HMEC	breast
44	chr2:58269200-58270400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:58269200-58272000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:58269200-58273000	Weak transcription	Esophagus	oesophagus
47	chr2:58269200-58273400	Weak transcription	Gastric	stomach
48	chr2:58269400-58270000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:58269400-58270200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:58269400-58270200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links