Variant report

Variant	rs4981494
Chromosome Location	chr14:24630091-24630092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr14:24629676-24631070	MCF-7	breast:	n/a	n/a
2	TBL1XR1	chr14:24630031-24631347	GM12878	blood:	n/a	n/a
3	STAT1	chr14:24630083-24631127	K562	blood:	n/a	chr14:24630437-24630448 chr14:24630411-24630419 chr14:24630408-24630422 chr14:24630409-24630420 chr14:24630405-24630425 chr14:24630411-24630434
4	RUNX3	chr14:24630059-24631114	GM12878	blood:	n/a	n/a
5	USF2	chr14:24630068-24630766	Hela-S3	cervix:	n/a	chr14:24630400-24630411
6	CHD2	chr14:24630029-24631054	GM12878	blood:	n/a	n/a
7	MTA3	chr14:24629737-24631848	GM12878	blood:	n/a	n/a
8	RCOR1	chr14:24630058-24630710	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24629795-24635666	GM12891	blood:	n/a	n/a
10	MAX	chr14:24630052-24630685	SK-N-SH	brain:	n/a	chr14:24630399-24630414 chr14:24630404-24630412 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630400-24630410 chr14:24630401-24630410 chr14:24630400-24630409 chr14:24630399-24630412 chr14:24630399-24630412 chr14:24630400-24630411 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630401-24630410
11	MAX	chr14:24630057-24630673	K562	blood:	n/a	chr14:24630399-24630414 chr14:24630404-24630412 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630400-24630410 chr14:24630401-24630410 chr14:24630400-24630409 chr14:24630399-24630412 chr14:24630399-24630412 chr14:24630400-24630411 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630401-24630410
12	SP1	chr14:24629976-24630652	A549	lung:	n/a	chr14:24630466-24630473 chr14:24630265-24630279
13	CTCF	chr14:24630077-24630869	HepG2	liver:	n/a	chr14:24630358-24630379 chr14:24630368-24630376 chr14:24630364-24630380 chr14:24630363-24630381 chr14:24630365-24630378
14	POLR2A	chr14:24629745-24631760	GM12892	blood:	n/a	n/a
15	MXI1	chr14:24630088-24631258	IMR90	lung:	n/a	n/a
16	PBX3	chr14:24630087-24631076	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr14:24630091-24631095	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr14:24629970-24631500	PFSK-1	brain:	n/a	n/a
19	BCL3	chr14:24630053-24631091	A549	lung:	n/a	chr14:24630892-24630905 chr14:24630437-24630446
20	STAT1	chr14:24630077-24630979	K562	blood:	n/a	chr14:24630437-24630448 chr14:24630411-24630419 chr14:24630408-24630422 chr14:24630409-24630420 chr14:24630405-24630425 chr14:24630411-24630434
21	SP1	chr14:24629977-24630681	A549	lung:	n/a	chr14:24630466-24630473 chr14:24630265-24630279
22	USF1	chr14:24630091-24630689	A549	lung:	n/a	n/a
23	POLR2A	chr14:24629908-24631343	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr14:24630018-24631041	Hela-S3	cervix:	n/a	n/a
25	ATF2	chr14:24629961-24631018	GM12878	blood:	n/a	n/a
26	MAX	chr14:24630074-24631033	GM12878	blood:	n/a	chr14:24630399-24630414 chr14:24630404-24630412 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630400-24630410 chr14:24630401-24630410 chr14:24630400-24630409 chr14:24630399-24630412 chr14:24630399-24630412 chr14:24630400-24630411 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630401-24630410
27	RXRA	chr14:24630060-24630612	H1-hESC	embryonic stem cell:	n/a	chr14:24630437-24630446 chr14:24630361-24630381
28	ATF2	chr14:24630057-24631156	GM12878	blood:	n/a	n/a
29	MAX	chr14:24630042-24630666	HepG2	liver:	n/a	chr14:24630399-24630414 chr14:24630404-24630412 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630400-24630410 chr14:24630401-24630410 chr14:24630400-24630409 chr14:24630399-24630412 chr14:24630399-24630412 chr14:24630400-24630411 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630401-24630410
30	POLR2A	chr14:24629914-24631738	HUVEC	blood vessel:	n/a	n/a
31	GATA1	chr14:24629946-24630905	PBDE	blood:	n/a	n/a
32	ELF1	chr14:24629899-24631051	HepG2	liver:	n/a	n/a
33	NFIC	chr14:24629942-24631000	HepG2	liver:	n/a	n/a
34	ELF1	chr14:24630029-24631142	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:24629630-24631626	SK-N-SH	brain:	n/a	chr14:24630358-24630379 chr14:24630368-24630376 chr14:24630364-24630380 chr14:24629963-24629970 chr14:24630363-24630381 chr14:24630365-24630378
36	USF1	chr14:24630087-24630592	SK-N-SH_RA	brain:	n/a	n/a
37	ELF1	chr14:24629562-24631002	GM12878	blood:	n/a	n/a
38	HEY1	chr14:24630074-24630823	HepG2	liver:	n/a	chr14:24630110-24630119
39	PBX3	chr14:24630089-24630773	A549	lung:	n/a	n/a
40	RAD21	chr14:24630078-24630703	ECC-1	luminal epithelium:	n/a	chr14:24630361-24630380 chr14:24630367-24630376 chr14:24630364-24630377 chr14:24630371-24630378
41	POLR2A	chr14:24630052-24631473	K562	blood:	n/a	n/a
42	JUND	chr14:24630053-24630987	HepG2	liver:	n/a	n/a
43	CBX3	chr14:24630038-24630530	K562	blood:	n/a	n/a
44	FOXA2	chr14:24629985-24630710	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:24630022-24631491	SK-N-SH	brain:	n/a	n/a
46	NFIC	chr14:24629932-24631374	GM12878	blood:	n/a	n/a
47	STAT1	chr14:24629864-24631388	Hela-S3	cervix:	n/a	chr14:24630437-24630448 chr14:24630411-24630419 chr14:24630408-24630422 chr14:24630409-24630420 chr14:24630060-24630068 chr14:24630405-24630425 chr14:24630411-24630434
48	MAX	chr14:24630067-24630661	ECC-1	luminal epithelium:	n/a	chr14:24630399-24630414 chr14:24630404-24630412 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630400-24630410 chr14:24630401-24630410 chr14:24630400-24630409 chr14:24630399-24630412 chr14:24630399-24630412 chr14:24630400-24630411 chr14:24630399-24630412 chr14:24630401-24630411 chr14:24630401-24630410
49	POLR2A	chr14:24630069-24631246	Hela-S3	cervix:	n/a	n/a
50	USF1	chr14:24630083-24630665	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24583688..24584193-chr14:24629912..24630681,2	K562	blood:
2	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
3	chr14:24629249..24631887-chr14:24767463..24769864,3	MCF-7	breast:
4	chr14:24624836..24627996-chr14:24628785..24631858,4	K562	blood:
5	chr14:24629833..24630577-chr14:24657173..24657821,2	MCF-7	breast:
6	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:
7	chr14:24629652..24632387-chr14:24633563..24637546,5	K562	blood:
8	chr14:24609162..24612471-chr14:24628038..24632357,4	K562	blood:
9	chr14:24616215..24619153-chr14:24627779..24631890,5	K562	blood:
10	chr14:24550428..24553290-chr14:24629057..24631041,2	K562	blood:
11	chr14:24563238..24566404-chr14:24628642..24631690,5	MCF-7	breast:
12	chr14:24627394..24630112-chr14:24833031..24835825,2	K562	blood:
13	chr14:24629917..24630454-chr14:24684890..24685518,2	MCF-7	breast:
14	chr14:24629039..24631896-chr14:24646822..24648474,2	K562	blood:
15	chr14:24615467..24617624-chr14:24629308..24633322,3	K562	blood:
16	chr14:24624836..24626476-chr14:24629035..24631545,2	K562	blood:
17	chr14:24629199..24631872-chr14:24798413..24800219,2	MCF-7	breast:
18	chr14:24613791..24615976-chr14:24629149..24631739,3	K562	blood:
19	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
20	chr14:24581560..24585367-chr14:24626129..24634058,10	MCF-7	breast:
21	chr14:24629462..24633065-chr14:24656618..24659351,3	K562	blood:
22	chr14:24628862..24633065-chr14:24656261..24659048,5	K562	blood:

Variant related genes	Relation type
IRF9	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000213928	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11622031	0.84[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24617600-24630400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24618000-24630200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:24618000-24630400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:24618600-24630200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:24618600-24630200	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:24623800-24630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:24626600-24630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:24626800-24630400	Weak transcription	Psoas Muscle	Psoas
9	chr14:24627400-24630400	Weak transcription	Aorta	Aorta
10	chr14:24627400-24630400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:24627800-24630400	Weak transcription	Fetal Brain Male	brain
12	chr14:24627800-24630400	Weak transcription	NHDF-Ad	bronchial
13	chr14:24628000-24630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:24628000-24630400	Weak transcription	Fetal Kidney	kidney
15	chr14:24628000-24630400	Weak transcription	Ovary	ovary
16	chr14:24628800-24630200	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr14:24628800-24630200	Genic enhancers	HepG2	liver
18	chr14:24628800-24630400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:24628800-24631800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:24628800-24632600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:24629000-24630200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:24629000-24630200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:24629000-24630200	Strong transcription	Fetal Brain Female	brain
24	chr14:24629000-24630200	Genic enhancers	Pancreas	Pancrea
25	chr14:24629000-24630200	Genic enhancers	Right Ventricle	heart
26	chr14:24629000-24630400	Genic enhancers	Placenta	Placenta
27	chr14:24629000-24630400	Genic enhancers	Fetal Thymus	thymus
28	chr14:24629000-24630400	Genic enhancers	HMEC	breast
29	chr14:24629200-24630200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr14:24629200-24630200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:24629200-24630200	Genic enhancers	Stomach Mucosa	stomach
32	chr14:24629200-24630400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:24629200-24630400	Genic enhancers	Fetal Muscle Leg	muscle
34	chr14:24629200-24630400	Genic enhancers	Dnd41	blood
35	chr14:24629400-24630200	Genic enhancers	Primary B cells from cord blood	blood
36	chr14:24629400-24630200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:24629400-24630200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:24629400-24630200	Genic enhancers	Fetal Intestine Large	intestine
39	chr14:24629400-24630200	Strong transcription	Gastric	stomach
40	chr14:24629400-24630200	Genic enhancers	Left Ventricle	heart
41	chr14:24629400-24630400	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:24629400-24630400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:24629400-24630400	Genic enhancers	Fetal Intestine Small	intestine
44	chr14:24629600-24630200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:24629600-24630200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:24629600-24630200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr14:24629600-24630200	Enhancers	Hela-S3	cervix
48	chr14:24629600-24630400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:24629600-24630400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:24629600-24630400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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