Variant report

Variant	nsv542433
Chromosome Location	chr15:74714265-74745033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1517)
CpG islands
(count:1283)
Chromatin interactive
region (count:100)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1517 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:74715318-74715492	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:74726253-74726286	K562	blood:	n/a	n/a
3	ARID3A	chr15:74738703-74739145	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:74731073-74731346	K562	blood:	n/a	n/a
5	ARID3A	chr15:74734001-74734817	HepG2	liver:	n/a	n/a
6	ARID3A	chr15:74735209-74736317	HepG2	liver:	n/a	n/a
7	ATF1	chr15:74718102-74718311	K562	blood:	n/a	n/a
8	ATF1	chr15:74729256-74729634	K562	blood:	n/a	n/a
9	ATF2	chr15:74720720-74721192	GM12878	blood:	n/a	n/a
10	ATF2	chr15:74730977-74731475	GM12878	blood:	n/a	n/a
11	ATF2	chr15:74722812-74723350	GM12878	blood:	n/a	n/a
12	ATF2	chr15:74725996-74726787	GM12878	blood:	n/a	n/a
13	ATF2	chr15:74722838-74723267	GM12878	blood:	n/a	n/a
14	BACH1	chr15:74715311-74715511	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr15:74726362-74726672	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr15:74743533-74743679	K562	blood:	n/a	n/a
17	BACH1	chr15:74715730-74716028	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr15:74725906-74725939	K562	blood:	n/a	n/a
19	BACH1	chr15:74725857-74726057	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr15:74726148-74726611	GM12878	blood:	n/a	n/a
21	BCL11A	chr15:74726241-74726662	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726372-74726381
22	BCL3	chr15:74726038-74726603	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726063-74726076
23	BCLAF1	chr15:74731057-74731405	GM12878	blood:	n/a	n/a
24	BCLAF1	chr15:74730922-74731426	GM12878	blood:	n/a	n/a
25	BCLAF1	chr15:74725906-74726705	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726022-74726035 chr15:74726063-74726076
26	BCLAF1	chr15:74720588-74721799	GM12878	blood:	n/a	chr15:74720893-74720902
27	BCLAF1	chr15:74726006-74726666	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726022-74726035 chr15:74726063-74726076
28	BCLAF1	chr15:74717831-74718350	GM12878	blood:	n/a	n/a
29	BHLHE40	chr15:74717998-74718303	K562	blood:	n/a	n/a
30	BHLHE40	chr15:74725856-74726684	K562	blood:	n/a	chr15:74726022-74726038
31	BHLHE40	chr15:74716460-74716593	K562	blood:	n/a	n/a
32	BHLHE40	chr15:74731083-74731342	HepG2	liver:	n/a	n/a
33	BHLHE40	chr15:74735040-74735240	K562	blood:	n/a	n/a
34	BHLHE40	chr15:74715011-74715309	GM12878	blood:	n/a	n/a
35	BHLHE40	chr15:74731088-74731393	K562	blood:	n/a	n/a
36	BHLHE40	chr15:74715185-74715213	K562	blood:	n/a	n/a
37	BHLHE40	chr15:74725905-74726657	HepG2	liver:	n/a	chr15:74726022-74726038
38	BHLHE40	chr15:74728469-74728563	K562	blood:	n/a	n/a
39	BHLHE40	chr15:74729272-74729571	K562	blood:	n/a	n/a
40	BHLHE40	chr15:74725374-74725482	GM12878	blood:	n/a	n/a
41	BHLHE40	chr15:74725918-74726764	GM12878	blood:	n/a	chr15:74726022-74726038
42	BHLHE40	chr15:74714990-74715773	HepG2	liver:	n/a	chr15:74715008-74715024
43	BHLHE40	chr15:74735197-74736312	HepG2	liver:	n/a	n/a
44	BHLHE40	chr15:74722829-74723197	GM12878	blood:	n/a	n/a
45	BRCA1	chr15:74728070-74728188	GM12878	blood:	n/a	n/a
46	BRCA1	chr15:74730939-74731310	HepG2	liver:	n/a	n/a
47	BRCA1	chr15:74716073-74716075	HepG2	liver:	n/a	n/a
48	BRCA1	chr15:74735229-74735827	HepG2	liver:	n/a	n/a
49	CBX3	chr15:74725794-74726155	K562	blood:	n/a	n/a
50	CBX3	chr15:74717996-74718373	K562	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74725980-74726030	HRCEpiC	kidney:	n/a
2	chr15:74726143-74726193	SK-N-MC	brain:	n/a
3	chr15:74725980-74726030	HRCEpiC	kidney:	n/a
4	chr15:74726143-74726193	SK-N-MC	brain:	n/a
5	chr15:74726457-74726507	NB4	blood:	n/a
6	chr15:74726423-74726473	Jurkat	blood:	n/a
7	chr15:74726423-74726473	NT2-D1	testis:	n/a
8	chr15:74726520-74726570	HPAEpiC	pulmonary alveolar:	n/a
9	chr15:74725980-74726030	SK-N-MC	brain:	n/a
10	chr15:74726423-74726473	Hepatocyte	liver:	n/a
11	chr15:74735479-74735529	SK-N-SH_RA	brain:	n/a
12	chr15:74726561-74726611	RPTEC	kidney:	n/a
13	chr15:74729482-74729532	NHBE	bronchial:	n/a
14	chr15:74715105-74715155	SKMC	muscle:	n/a
15	chr15:74725980-74726030	HCPEpiC	choroid plexus:	n/a
16	chr15:74725980-74726030	HCF	heart:	n/a
17	chr15:74725980-74726030	PANC-1	pancreas:	n/a
18	chr15:74715105-74715155	HCF	heart:	n/a
19	chr15:74726561-74726611	IMR90	lung:	fetal
20	chr15:74735479-74735529	NH-A	brain:	n/a
21	chr15:74735479-74735529	AG04449	skin:	fetal
22	chr15:74725593-74725643	AG04450	lung:	fetal
23	chr15:74725662-74725712	GM19239	blood:	n/a
24	chr15:74726139-74726189	NB4	blood:	n/a
25	chr15:74725882-74725932	SK-N-SH	brain:	n/a
26	chr15:74726136-74726186	NB4	blood:	n/a
27	chr15:74714463-74714513	ProgFib	skin:	n/a
28	chr15:74724562-74724612	HCT-116	colon:	n/a
29	chr15:74726139-74726189	AoSMC	blood vessel:	n/a
30	chr15:74724918-74724968	MCF-7	breast:	n/a
31	chr15:74726423-74726473	HCF	heart:	n/a
32	chr15:74726423-74726473	GM06990	blood:	n/a
33	chr15:74726486-74726536	ProgFib	skin:	n/a
34	chr15:74726561-74726611	GM12878	blood:	n/a
35	chr15:74726136-74726186	LNCaP	prostate:	n/a
36	chr15:74726561-74726611	MCF10A-Er-Src	breast:	n/a
37	chr15:74726457-74726507	GM06990	blood:	n/a
38	chr15:74735479-74735529	GM12891	blood:	n/a
39	chr15:74726469-74726519	HRE	kidney:	n/a
40	chr15:74726614-74726664	NH-A	brain:	n/a
41	chr15:74726457-74726507	MCF-7	breast:	n/a
42	chr15:74723271-74723321	SAEC	small airway:	n/a
43	chr15:74725980-74726030	GM12891	blood:	n/a
44	chr15:74725980-74726030	NH-A	brain:	n/a
45	chr15:74726469-74726519	Hepatocyte	liver:	n/a
46	chr15:74725662-74725712	HRPEpiC	eye:	n/a
47	chr15:74724918-74724968	HCF	heart:	n/a
48	chr15:74725593-74725643	HIPEpiC	eye:	n/a
49	chr15:74725662-74725712	Caco-2	colon:	n/a
50	chr15:74723271-74723321	H1-hESC	embryonic stem cell:	embryo

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:74678579..74680979-chr15:74717975..74720152,2	MCF-7	breast:
2	chr15:74724666..74727655-chr15:74741238..74745335,3	MCF-7	breast:
3	chr15:74724666..74727655-chr15:74741238..74745335,3	MCF-7	breast:
4	chr15:74712692..74714612-chr15:74714775..74716965,2	MCF-7	breast:
5	chr15:74711559..74715833-chr15:74724252..74727151,6	K562	blood:
6	chr15:74664518..74667093-chr15:74731124..74732993,2	MCF-7	breast:
7	chr15:74708765..74710665-chr15:74717275..74720280,3	K562	blood:
8	chr15:74727843..74730668-chr15:74907204..74909130,2	K562	blood:
9	chr15:74735765..74738345-chr15:74742759..74744562,2	K562	blood:
10	chr15:74678696..74681128-chr15:74729698..74732271,2	K562	blood:
11	chr15:74694166..74696263-chr15:74727466..74729822,2	MCF-7	breast:
12	chr15:74711706..74714244-chr15:74719320..74721195,2	K562	blood:
13	chr15:74665832..74668344-chr15:74734420..74737401,2	K562	blood:
14	chr15:74698938..74701316-chr15:74711313..74715118,3	MCF-7	breast:
15	chr15:74741955..74744869-chr15:74750008..74755464,5	K562	blood:
16	chr15:74674258..74675602-chr15:74730524..74732381,33	K562	blood:
17	chr15:74674223..74675499-chr15:74730656..74732013,12	MCF-7	breast:
18	chr15:74735418..74737152-chr15:74739151..74742210,3	MCF-7	breast:
19	chr15:74665674..74667087-chr15:74730530..74731799,6	MCF-7	breast:
20	chr15:74708483..74711346-chr15:74713083..74715062,3	MCF-7	breast:
21	chr15:74688261..74689838-chr15:74715380..74717091,2	K562	blood:
22	chr15:74735765..74738345-chr15:74742759..74744562,2	K562	blood:
23	chr15:74674826..74677485-chr15:74730941..74732825,2	K562	blood:
24	chr15:74718075..74720590-chr15:74744935..74747887,2	K562	blood:
25	chr15:74725986..74726600-chrX:46771960..46772662,2	NB4	blood:
26	chr15:74710571..74713498-chr15:74715208..74717540,3	K562	blood:
27	chr15:74720298..74721801-chr15:74727091..74728921,2	MCF-7	breast:
28	chr15:74690543..74693238-chr15:74721737..74723787,2	MCF-7	breast:
29	chr15:74666062..74666780-chr15:74733316..74734121,2	K562	blood:
30	chr15:74671949..74676409-chr15:74729449..74732504,7	MCF-7	breast:
31	chr15:74685612..74687526-chr15:74716877..74719383,2	K562	blood:
32	chr15:74724929..74726985-chr15:74737428..74739824,2	MCF-7	breast:
33	chr15:74682079..74683871-chr15:74715405..74717396,2	MCF-7	breast:
34	chr15:74718075..74720590-chr15:74744935..74747887,2	K562	blood:
35	chr15:74673143..74676106-chr15:74720304..74723999,3	K562	blood:
36	chr15:74727453..74729431-chr15:74732496..74734261,2	K562	blood:
37	chr15:74712461..74714565-chr15:74744762..74746348,2	MCF-7	breast:
38	chr15:74726148..74727882-chr15:74729706..74732304,2	K562	blood:
39	chr15:74693785..74695419-chr15:74712435..74714990,2	MCF-7	breast:
40	chr15:74675537..74677180-chr15:74730758..74731693,9	MCF-7	breast:
41	chr15:74675805..74678192-chr15:74715315..74717229,2	MCF-7	breast:
42	chr15:74738044..74740528-chr15:74752608..74755369,2	MCF-7	breast:
43	chr15:74712692..74714612-chr15:74714775..74716965,2	MCF-7	breast:
44	chr15:74725782..74726755-chr17:41465710..41466295,2	NB4	blood:
45	chr15:74681432..74683884-chr15:74728087..74731216,4	K562	blood:
46	chr15:74744211..74746229-chr15:74751385..74754144,2	MCF-7	breast:
47	chr15:74664841..74669022-chr15:74717731..74721779,3	K562	blood:
48	chr15:74724633..74727188-chr15:74734244..74737111,3	K562	blood:
49	chr15:74674587..74678748-chr15:74711681..74714409,4	K562	blood:
50	chr15:74676164..74677951-chr15:74723828..74725756,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARID3B-8	chr15:74736655-74737145	NONHSAT047233

No data

Variant related genes	Relation type
SEMA7A	TF binding region
UBL7	TF binding region
SEMA7A	CpG island
UBL7	CpG island
ENSG00000138623	chromatin interactions
ENSG00000247240	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000260919	chromatin interactions
ENSG00000140459	chromatin interactions
ENSG00000139163	chromatin interactions
ENSG00000134627	chromatin interactions
ENSG00000257023	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000175048	chromatin interactions
ENSG00000102221	chromatin interactions
ENSG00000179335	chromatin interactions

Extended variants
information (count: 1087 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1087 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545860868	chr15:74714355-74714356	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564775854	chr15:74714373-74714374	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371655955	chr15:74714376-74714377	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532156434	chr15:74714403-74714404	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547334193	chr15:74714463-74714464	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565955494	chr15:74714533-74714534	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529907087	chr15:74714547-74714548	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181794922	chr15:74714585-74714586	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569515429	chr15:74714588-74714589	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187275137	chr15:74714590-74714591	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78592593	chr15:74714606-74714607	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571104713	chr15:74714644-74714645	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535219109	chr15:74714663-74714664	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148639539	chr15:74714664-74714665	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554146673	chr15:74714665-74714666	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575078406	chr15:74714672-74714673	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574306756	chr15:74714681-74714682	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143333292	chr15:74714682-74714683	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557341748	chr15:74714721-74714722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575535387	chr15:74714759-74714760	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545924187	chr15:74714784-74714785	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368804149	chr15:74714823-74714824	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564240142	chr15:74714832-74714833	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139355749	chr15:74714840-74714841	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540836446	chr15:74714874-74714875	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559238149	chr15:74714887-74714888	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537073550	chr15:74714889-74714890	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191675451	chr15:74714892-74714893	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548170813	chr15:74714937-74714938	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563322943	chr15:74714962-74714963	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530515640	chr15:74715015-74715016	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552338026	chr15:74715062-74715063	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576559955	chr15:74715100-74715101	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372946887	chr15:74715129-74715130	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11852686	chr15:74715205-74715206	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs28362894	chr15:74715211-74715212	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144138704	chr15:74715250-74715251	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568528369	chr15:74715287-74715288	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536182929	chr15:74715322-74715323	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557352130	chr15:74715440-74715441	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565058475	chr15:74715472-74715473	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs28362893	chr15:74715493-74715494	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs28362892	chr15:74715499-74715500	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187169033	chr15:74715511-74715512	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561419126	chr15:74715537-74715538	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190198972	chr15:74715558-74715559	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577178097	chr15:74715580-74715581	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559532619	chr15:74715592-74715593	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs28362891	chr15:74715602-74715603	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529983449	chr15:74715647-74715648	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Intellectual disability	22102821	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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Autism	20531469	CNVD

Chromatin state (count:1570 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
2	chr15:74701200-74714600	Genic enhancers	Spleen	Spleen
3	chr15:74702200-74715000	Weak transcription	Colonic Mucosa	Colon
4	chr15:74706400-74714600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:74706800-74715000	Weak transcription	Aorta	Aorta
6	chr15:74707200-74722400	Weak transcription	Fetal Intestine Small	intestine
7	chr15:74707800-74718000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:74708000-74717600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:74708400-74722400	Genic enhancers	Fetal Thymus	thymus
10	chr15:74709000-74715400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:74709000-74717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:74709200-74720200	Weak transcription	Esophagus	oesophagus
13	chr15:74709200-74720800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
15	chr15:74709400-74716000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:74709400-74718000	Enhancers	HSMMtube	muscle
17	chr15:74709600-74714400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:74709600-74718200	Enhancers	HMEC	breast
19	chr15:74709800-74718000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:74710000-74722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:74710200-74714800	Enhancers	Brain Angular Gyrus	brain
22	chr15:74710200-74718200	Enhancers	NHDF-Ad	bronchial
23	chr15:74710200-74718400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:74710200-74722000	Weak transcription	Dnd41	blood
25	chr15:74710400-74714400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:74710400-74716400	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:74710400-74718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:74710400-74721200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:74710400-74722800	Enhancers	Brain Hippocampus Middle	brain
30	chr15:74710600-74714400	Weak transcription	Primary B cells from cord blood	blood
31	chr15:74711000-74718400	Enhancers	Brain Anterior Caudate	brain
32	chr15:74711000-74721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:74711000-74723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr15:74711000-74723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:74711400-74716400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:74711400-74717000	Enhancers	Fetal Brain Female	brain
37	chr15:74711400-74717600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr15:74711400-74719000	Enhancers	Placenta	Placenta
39	chr15:74711800-74715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr15:74711800-74716600	Enhancers	Primary B cells from peripheral blood	blood
41	chr15:74711800-74717800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr15:74712000-74715400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr15:74712000-74715600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr15:74712000-74716000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:74712200-74714600	Genic enhancers	NHEK	skin
46	chr15:74712200-74715600	Enhancers	Fetal Brain Male	brain
47	chr15:74712200-74716000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:74712200-74716400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:74712400-74716600	Enhancers	K562	blood
50	chr15:74712400-74717000	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links