Variant report

Variant	esv3357133
Chromosome Location	chr15:83874773-83877521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:501)
CpG islands
(count:611)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:83874509-83874993	K562	blood:	n/a	n/a
2	ATF1	chr15:83874774-83875031	K562	blood:	n/a	n/a
3	ATF2	chr15:83876967-83877320	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr15:83876812-83877431	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:83876676-83877310	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr15:83876003-83876159	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr15:83876930-83877521	A549	lung:	n/a	n/a
8	BHLHE40	chr15:83876898-83876902	K562	blood:	n/a	n/a
9	CCNT2	chr15:83875600-83877137	K562	blood:	n/a	chr15:83876377-83876386
10	CEBPB	chr15:83874623-83874990	IMR90	lung:	n/a	n/a
11	CEBPB	chr15:83876925-83877011	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr15:83875838-83876319	GM12878	blood:	n/a	chr15:83876305-83876315
13	CHD1	chr15:83876727-83877278	GM12878	blood:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
14	CHD1	chr15:83874903-83876282	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr15:83876802-83877151	H1-hESC	embryonic stem cell:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
16	CHD2	chr15:83876218-83877093	Hela-S3	cervix:	n/a	chr15:83877047-83877054 chr15:83876305-83876315 chr15:83877074-83877084
17	CHD2	chr15:83876584-83876890	K562	blood:	n/a	n/a
18	CHD2	chr15:83875643-83875651	K562	blood:	n/a	n/a
19	CHD2	chr15:83875431-83876004	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr15:83876907-83877161	GM12878	blood:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
21	CHD2	chr15:83876956-83877249	H1-hESC	embryonic stem cell:	n/a	chr15:83877047-83877054 chr15:83877074-83877084
22	CREB1	chr15:83875611-83877315	A549	lung:	n/a	n/a
23	CTBP2	chr15:83876718-83877235	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:83876960-83877110	HCM	heart:	n/a	n/a
25	CTCF	chr15:83876980-83877130	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr15:83877080-83877230	HPF	lung:	n/a	n/a
27	CTCF	chr15:83877000-83877150	GM12868	blood:	n/a	n/a
28	CTCF	chr15:83876146-83876244	K562	blood:	n/a	chr15:83876220-83876233
29	CTCF	chr15:83877040-83877190	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr15:83876470-83876521	GM19240	blood:	n/a	n/a
31	CTCF	chr15:83876420-83876570	GM12865	blood:	n/a	n/a
32	CTCF	chr15:83876984-83877196	NHEK	skin:	n/a	n/a
33	CTCF	chr15:83876960-83877110	AG09309	skin:	n/a	n/a
34	CTCF	chr15:83877040-83877190	GM06990	blood:	n/a	n/a
35	CTCF	chr15:83877004-83877207	Gliobla	brain:	n/a	n/a
36	CTCF	chr15:83876206-83876262	NHEK	skin:	n/a	chr15:83876220-83876233
37	CTCF	chr15:83876046-83876276	GM12878	blood:	n/a	chr15:83876220-83876233
38	CTCF	chr15:83877020-83877170	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr15:83877020-83877170	HepG2	liver:	n/a	n/a
40	CTCF	chr15:83877011-83877184	LNCaP	prostate:	n/a	n/a
41	CTCF	chr15:83876238-83876255	LNCaP	prostate:	n/a	n/a
42	CTCF	chr15:83877220-83877370	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr15:83876846-83877215	K562	blood:	n/a	n/a
44	CTCF	chr15:83876985-83877177	MCF-7	breast:	n/a	n/a
45	CTCF	chr15:83877020-83877170	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr15:83877020-83877170	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr15:83877060-83877210	GM12878	blood:	n/a	n/a
48	CTCF	chr15:83877080-83877230	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr15:83877020-83877170	AG09319	gingival:	n/a	n/a
50	CTCF	chr15:83877025-83877197	GM10266	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83876098-83876148	MCF10A-Er-Src	breast:	n/a
2	chr15:83876098-83876148	MCF10A-Er-Src	breast:	n/a
3	chr15:83876730-83876780	LNCaP	prostate:	n/a
4	chr15:83876730-83876780	HRCEpiC	kidney:	n/a
5	chr15:83876730-83876780	HMEC	breast:	n/a
6	chr15:83875703-83875753	MCF-7	breast:	n/a
7	chr15:83876098-83876148	PFSK-1	brain:	n/a
8	chr15:83876098-83876148	Jurkat	blood:	n/a
9	chr15:83876554-83876604	HUVEC	blood vessel:	n/a
10	chr15:83877070-83877120	ProgFib	skin:	n/a
11	chr15:83875703-83875753	HIPEpiC	eye:	n/a
12	chr15:83875649-83875699	T-47D	breast:	n/a
13	chr15:83876612-83876662	LNCaP	prostate:	n/a
14	chr15:83877109-83877159	U87	brain:	n/a
15	chr15:83877109-83877159	GM12878	blood:	n/a
16	chr15:83877135-83877185	AG09309	skin:	n/a
17	chr15:83876612-83876662	SK-N-SH	brain:	n/a
18	chr15:83876612-83876662	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:83877135-83877185	HL-60	blood:	n/a
20	chr15:83876730-83876780	RPTEC	kidney:	n/a
21	chr15:83877109-83877159	Hepatocyte	liver:	n/a
22	chr15:83875537-83875587	GM19239	blood:	n/a
23	chr15:83877109-83877159	HCPEpiC	choroid plexus:	n/a
24	chr15:83875649-83875699	HepG2	liver:	n/a
25	chr15:83877070-83877120	MCF-7	breast:	n/a
26	chr15:83877109-83877159	HPAEpiC	pulmonary alveolar:	n/a
27	chr15:83876554-83876604	GM12891	blood:	n/a
28	chr15:83876098-83876148	SK-N-MC	brain:	n/a
29	chr15:83875649-83875699	PFSK-1	brain:	n/a
30	chr15:83876730-83876780	SK-N-SH_RA	brain:	n/a
31	chr15:83876612-83876662	HRPEpiC	eye:	n/a
32	chr15:83876730-83876780	HRPEpiC	eye:	n/a
33	chr15:83875537-83875587	Caco-2	colon:	n/a
34	chr15:83875537-83875587	PANC-1	pancreas:	n/a
35	chr15:83875703-83875753	HCF	heart:	n/a
36	chr15:83875649-83875699	HIPEpiC	eye:	n/a
37	chr15:83875537-83875587	HCPEpiC	choroid plexus:	n/a
38	chr15:83877109-83877159	K562	blood:	n/a
39	chr15:83876612-83876662	BE2_C	brain:	n/a
40	chr15:83877109-83877159	NB4	blood:	n/a
41	chr15:83877135-83877185	HEEpiC	esophagus:	n/a
42	chr15:83877109-83877159	HCT-116	colon:	n/a
43	chr15:83876098-83876148	SK-N-SH	brain:	n/a
44	chr15:83877070-83877120	AG10803	skin:	n/a
45	chr15:83876612-83876662	HL-60	blood:	n/a
46	chr15:83877135-83877185	PFSK-1	brain:	n/a
47	chr15:83877135-83877185	HAEpiC	amniotic membrane:	n/a
48	chr15:83875703-83875753	HCPEpiC	choroid plexus:	n/a
49	chr15:83876730-83876780	AG04449	skin:	fetal
50	chr15:83877135-83877185	HCT-116	colon:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83733314..83737988-chr15:83872344..83875458,5	K562	blood:
2	chr15:83733142..83737236-chr15:83872525..83879828,15	MCF-7	breast:
3	chr15:83652926..83655970-chr15:83874776..83878125,3	MCF-7	breast:
4	chr15:83678614..83685168-chr15:83874398..83879059,12	MCF-7	breast:
5	chr15:83876782..83879071-chr15:84050776..84053282,2	MCF-7	breast:
6	chr15:83875339..83878212-chr17:65989153..65990840,2	MCF-7	breast:
7	chr15:83797822..83799422-chr15:83873732..83875902,2	K562	blood:
8	chr15:83826728..83828298-chr15:83873729..83876383,2	MCF-7	breast:
9	chr15:83678154..83684518-chr15:83871554..83879371,12	MCF-7	breast:
10	chr15:83678260..83683197-chr15:83874959..83878158,5	K562	blood:
11	chr15:83734393..83737227-chr15:83876568..83879136,2	K562	blood:
12	chr15:83877096..83880148-chr15:83900858..83903461,3	MCF-7	breast:
13	chr15:83680783..83683197-chr15:83876059..83879037,3	K562	blood:
14	chr15:83825858..83828355-chr15:83876251..83878131,2	MCF-7	breast:
15	chr15:83834964..83840588-chr15:83874121..83878306,6	MCF-7	breast:
16	chr15:83876872..83879211-chr15:83879767..83882813,3	K562	blood:
17	chr15:83795078..83799216-chr15:83876236..83878812,3	MCF-7	breast:
18	chr15:83733297..83738085-chr15:83874642..83880991,12	MCF-7	breast:
19	chr15:83874825..83876698-chr15:84113780..84116489,2	MCF-7	breast:
20	chr15:83706535..83711494-chr15:83875161..83878411,4	MCF-7	breast:
21	chr15:83875778..83876772-chr5:180673118..180673928,2	Hela-S3	cervix:
22	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
23	chr15:83847714..83850048-chr15:83876536..83879465,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM6SF1-2	chr15:83876655-83877033	ENSG00000245208

No data

Variant related genes	Relation type
ENSG00000166503	TF binding region
ENSG00000166503	CpG island
ENSG00000103942	chromatin interactions
ENSG00000263643	chromatin interactions
ENSG00000259986	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000166503	chromatin interactions
ENSG00000169612	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000260608	chromatin interactions
ENSG00000064726	chromatin interactions
ENSG00000140600	chromatin interactions
ENSG00000186665	chromatin interactions
ENSG00000136404	chromatin interactions
ENSG00000249214	chromatin interactions
ENSG00000169609	chromatin interactions
HCCS	miRNA target sites

Extended variants
information (count: 100 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181709512	chr15:83874778-83874779	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs141804764	chr15:83874807-83874808	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs554160803	chr15:83874847-83874848	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs574077309	chr15:83874853-83874854	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs184298520	chr15:83874876-83874877	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs56352317	chr15:83874937-83874938	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563022545	chr15:83874963-83874964	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs537567970	chr15:83874975-83874976	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs573640530	chr15:83875015-83875016	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs146254603	chr15:83875022-83875023	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs565154937	chr15:83875030-83875031	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs544312782	chr15:83875039-83875040	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs567852669	chr15:83875052-83875053	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs562717300	chr15:83875068-83875069	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs138020369	chr15:83875073-83875074	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs534850366	chr15:83875075-83875076	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs142067036	chr15:83875085-83875086	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs529650220	chr15:83875086-83875087	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs549783346	chr15:83875107-83875108	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs569821643	chr15:83875141-83875142	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs553294861	chr15:83875152-83875153	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs538938343	chr15:83875179-83875180	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs534856713	chr15:83875193-83875194	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs558744645	chr15:83875247-83875248	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs565883562	chr15:83875297-83875298	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs534858198	chr15:83875298-83875299	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs150846985	chr15:83875300-83875301	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs375095635	chr15:83875307-83875308	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs114756167	chr15:83875333-83875334	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs139288395	chr15:83875347-83875348	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs189449773	chr15:83875348-83875349	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs577916303	chr15:83875372-83875373	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs539076474	chr15:83875437-83875438	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs557721944	chr15:83875455-83875456	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs376098720	chr15:83875496-83875497	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs575917158	chr15:83875513-83875514	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs7495911	chr15:83875557-83875558	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs181802549	chr15:83875578-83875579	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs565092917	chr15:83875582-83875583	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs556673849	chr15:83875596-83875597	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs527876310	chr15:83875653-83875654	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs28734025	chr15:83875704-83875705	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs561586263	chr15:83875747-83875748	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs541269310	chr15:83875764-83875765	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs560634608	chr15:83875796-83875797	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs529825426	chr15:83875809-83875810	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs549475753	chr15:83875811-83875812	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs569641399	chr15:83875816-83875817	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs573920084	chr15:83875822-83875823	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs532259079	chr15:83875853-83875854	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83862800-83875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:83867800-83874800	Weak transcription	Ovary	ovary
3	chr15:83869600-83874800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:83870600-83875400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:83871400-83875000	Weak transcription	Adipose Nuclei	Adipose
6	chr15:83872000-83877200	Active TSS	GM12878-XiMat	blood
7	chr15:83873000-83874800	Flanking Active TSS	HUVEC	blood vessel
8	chr15:83873000-83875000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:83873400-83874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:83873400-83875000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:83873400-83875000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:83873400-83875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:83873400-83875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:83873400-83877600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:83873600-83874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:83873600-83874800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr15:83873600-83874800	Enhancers	NHDF-Ad	bronchial
18	chr15:83873600-83875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr15:83873600-83877000	Active TSS	Stomach Smooth Muscle	stomach
20	chr15:83873800-83874800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:83873800-83875000	Weak transcription	Right Ventricle	heart
22	chr15:83873800-83875200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:83873800-83875200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:83873800-83875200	Weak transcription	Left Ventricle	heart
25	chr15:83873800-83875400	Weak transcription	Pancreas	Pancrea
26	chr15:83874000-83874800	Flanking Active TSS	NH-A	brain
27	chr15:83874000-83877200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr15:83874000-83877400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr15:83874200-83875000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr15:83874200-83875200	Active TSS	K562	blood
31	chr15:83874200-83875400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:83874200-83875400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr15:83874200-83875600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:83874200-83877200	Active TSS	Aorta	Aorta
35	chr15:83874200-83877400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr15:83874400-83874800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr15:83874400-83874800	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr15:83874400-83874800	Enhancers	Hela-S3	cervix
39	chr15:83874400-83875000	Flanking Active TSS	Fetal Kidney	kidney
40	chr15:83874400-83875000	Flanking Active TSS	A549	lung
41	chr15:83874400-83875200	Flanking Active TSS	Dnd41	blood
42	chr15:83874400-83875400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr15:83874400-83875400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr15:83874400-83875400	Flanking Active TSS	NHEK	skin
45	chr15:83874400-83875400	Flanking Active TSS	Osteobl	bone
46	chr15:83874400-83875600	Active TSS	Brain Germinal Matrix	brain
47	chr15:83874400-83875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:83874400-83877600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr15:83874600-83874800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:83874600-83874800	Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links