Variant report

Variant	rs12437637
Chromosome Location	chr15:43212818-43212819
allele	C/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	POLR2A	chr15:43212787-43213113	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:43212662-43213488	K562	blood:	n/a	n/a
3	CHD1	chr15:43212700-43212907	GM12878	blood:	n/a	n/a
4	NRF1	chr15:43212802-43213952	SK-N-SH	brain:	n/a	chr15:43213255-43213269 chr15:43213252-43213266 chr15:43213257-43213266 chr15:43213254-43213265 chr15:43213255-43213266 chr15:43213255-43213264
5	SP2	chr15:43212770-43213396	HepG2	liver:	n/a	chr15:43213139-43213154 chr15:43213116-43213139
6	SP2	chr15:43212803-43213413	H1-hESC	embryonic stem cell:	n/a	chr15:43213139-43213154 chr15:43213116-43213139
7	PBX3	chr15:43212679-43213492	SK-N-SH	brain:	n/a	n/a
8	REST	chr15:43211715-43213741	H1-neurons	neurons:	n/a	chr15:43212748-43212761
9	POLR2A	chr15:43212598-43213950	GM18951	blood:	n/a	n/a
10	POLR2A	chr15:43212656-43213148	GM12878	blood:	n/a	n/a
11	TAF1	chr15:43212768-43213202	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:43212596-43213424	K562	blood:	n/a	n/a
13	ZNF143	chr15:43212177-43213815	GM12878	blood:	n/a	chr15:43213270-43213288
14	YY1	chr15:43212748-43213479	ECC-1	luminal epithelium:	n/a	chr15:43212838-43212847 chr15:43212836-43212847 chr15:43212832-43212841 chr15:43212833-43212844 chr15:43212832-43212846 chr15:43212835-43212844
15	FOXM1	chr15:43212647-43213502	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:43212730-43213409	HCT-116	colon:	n/a	n/a
17	HEY1	chr15:43212717-43213213	HepG2	liver:	n/a	chr15:43212751-43212766 chr15:43212830-43212845
18	CREB1	chr15:43212784-43213459	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr15:43212715-43213891	K562	blood:	n/a	n/a
20	POLR2A	chr15:43212742-43213884	GM18505	blood:	n/a	n/a
21	STAT1	chr15:43212764-43213850	GM12878	blood:	n/a	chr15:43213308-43213320
22	MXI1	chr15:43211524-43213907	IMR90	lung:	n/a	chr15:43213036-43213045
23	POLR2A	chr15:43212767-43213789	HEK293	kidney:	n/a	n/a
24	SIN3AK20	chr15:43212289-43213507	PANC-1	pancreas:	n/a	n/a
25	ELF1	chr15:43212799-43213186	K562	blood:	n/a	chr15:43212835-43212844 chr15:43212838-43212847 chr15:43212832-43212841 chr15:43212833-43212845 chr15:43212975-43212987
26	SIN3A	chr15:43211942-43213980	H1-hESC	embryonic stem cell:	n/a	chr15:43212902-43212911
27	POLR2A	chr15:43212802-43213197	K562	blood:	n/a	n/a
28	TCF12	chr15:43212528-43213371	ECC-1	luminal epithelium:	n/a	chr15:43212907-43212917 chr15:43213036-43213046
29	MAZ	chr15:43212018-43213676	K562	blood:	n/a	n/a
30	GABPA	chr15:43212681-43213391	K562	blood:	n/a	chr15:43213255-43213269 chr15:43213252-43213266 chr15:43213257-43213266 chr15:43213255-43213266 chr15:43213255-43213264
31	POLR2A	chr15:43212807-43213153	K562	blood:	n/a	n/a
32	HCFC1	chr15:43212621-43213717	K562	blood:	n/a	n/a
33	SP1	chr15:43212721-43213682	HCT-116	colon:	n/a	chr15:43213140-43213154 chr15:43213144-43213153 chr15:43213170-43213184 chr15:43213143-43213155 chr15:43213171-43213180 chr15:43212739-43212753 chr15:43213169-43213181
34	POLR2A	chr15:43212737-43213528	PFSK-1	brain:	n/a	n/a
35	SP1	chr15:43212752-43213347	K562	blood:	n/a	chr15:43213140-43213154 chr15:43213144-43213153 chr15:43213170-43213184 chr15:43213143-43213155 chr15:43213171-43213180 chr15:43213169-43213181
36	MAX	chr15:43212016-43213444	K562	blood:	n/a	n/a
37	MAX	chr15:43212798-43213462	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr15:43212748-43213517	Hela-S3	cervix:	n/a	n/a
39	SMC3	chr15:43212728-43213577	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr15:43212537-43213596	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr15:43212590-43213231	HepG2	liver:	n/a	n/a
42	UBTF	chr15:43212007-43213444	K562	blood:	n/a	n/a
43	YY1	chr15:43212782-43213478	ECC-1	luminal epithelium:	n/a	chr15:43212838-43212847 chr15:43212836-43212847 chr15:43212832-43212841 chr15:43212833-43212844 chr15:43212832-43212846 chr15:43212835-43212844
44	POLR2A	chr15:43212802-43213354	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:43212740-43213172	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr15:43212737-43213543	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:43212612-43213562	HUVEC	blood vessel:	n/a	n/a
48	TCF12	chr15:43212811-43213123	GM12878	blood:	n/a	chr15:43212907-43212917 chr15:43213036-43213046
49	POLR2A	chr15:43212765-43213129	MCF-7	breast:	n/a	n/a
50	POLR2A	chr15:43212658-43213875	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43212538..43214244-chr15:43477789..43479955,2	K562	blood:
2	chr15:43029256..43031403-chr15:43210732..43214178,4	K562	blood:
3	chr15:43032504..43034009-chr15:43211732..43214005,2	MCF-7	breast:

Variant related genes	Relation type
TTBK2	TF binding region
ENSG00000166946	Chromatin interaction
ENSG00000140326	Chromatin interaction
ENSG00000246283	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11070389	1.00[CEU][hapmap]
rs1197533	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1206698	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12904179	0.84[EUR][1000 genomes]
rs12913112	0.96[CEU][hapmap]
rs12913134	1.00[CEU][hapmap]
rs13329073	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1381855	0.81[EUR][1000 genomes]
rs1474200	1.00[CEU][hapmap]
rs2056346	1.00[CEU][hapmap]
rs2169581	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2277532	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2682074	0.85[EUR][1000 genomes]
rs28407836	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs28646262	0.83[EUR][1000 genomes]
rs28715020	0.84[EUR][1000 genomes]
rs28805017	0.81[EUR][1000 genomes]
rs28890597	0.83[EUR][1000 genomes]
rs4923952	0.83[EUR][1000 genomes]
rs4923956	1.00[CEU][hapmap]
rs4924702	0.80[EUR][1000 genomes]
rs56114844	0.83[EUR][1000 genomes]
rs62020697	0.83[EUR][1000 genomes]
rs6493067	1.00[CEU][hapmap]
rs6493068	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6493069	0.84[EUR][1000 genomes]
rs7165888	0.83[EUR][1000 genomes]
rs7167802	0.96[CEU][hapmap]
rs7173097	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7182753	1.00[CEU][hapmap]
rs8025479	0.80[EUR][1000 genomes]
rs8028731	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs8035752	0.96[CEU][hapmap]
rs8036096	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs8037374	0.96[CEU][hapmap]
rs9806175	1.00[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr15:43210600-43213400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr15:43210800-43213400	Active TSS	HMEC	breast
3	chr15:43211400-43213000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:43211400-43213400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:43211400-43213400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:43211400-43213400	Active TSS	NHLF	lung
7	chr15:43211400-43213600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:43211400-43213800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:43211400-43214000	Active TSS	NHDF-Ad	bronchial
10	chr15:43211600-43213400	Active TSS	Fetal Muscle Trunk	muscle
11	chr15:43211600-43213400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr15:43211600-43213400	Active TSS	NH-A	brain
13	chr15:43211600-43213600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:43211600-43213800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr15:43211600-43213800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:43211600-43213800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr15:43211600-43213800	Active TSS	HSMMtube	muscle
18	chr15:43211600-43214000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr15:43211600-43214000	Active TSS	Aorta	Aorta
20	chr15:43211600-43214000	Active TSS	Left Ventricle	heart
21	chr15:43211600-43214200	Active TSS	Brain Angular Gyrus	brain
22	chr15:43211600-43214200	Active TSS	Right Atrium	heart
23	chr15:43211800-43213400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:43211800-43213400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:43211800-43213400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:43211800-43213400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:43211800-43213400	Active TSS	Placenta	Placenta
28	chr15:43211800-43213600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr15:43211800-43213600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:43211800-43213600	Active TSS	Brain Anterior Caudate	brain
31	chr15:43211800-43213600	Active TSS	Brain Hippocampus Middle	brain
32	chr15:43211800-43213600	Active TSS	Right Ventricle	heart
33	chr15:43211800-43213600	Bivalent/Poised TSS	HepG2	liver
34	chr15:43211800-43213800	Active TSS	Fetal Intestine Small	intestine
35	chr15:43211800-43213800	Active TSS	Fetal Stomach	stomach
36	chr15:43211800-43214000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:43211800-43214000	Active TSS	Brain Substantia Nigra	brain
38	chr15:43211800-43214000	Active TSS	Fetal Intestine Large	intestine
39	chr15:43211800-43214000	Active TSS	Psoas Muscle	Psoas
40	chr15:43212000-43213200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:43212000-43213400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:43212000-43213400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:43212000-43213400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:43212000-43213400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr15:43212000-43213400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:43212000-43213400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr15:43212000-43213400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:43212000-43213400	Active TSS	Esophagus	oesophagus
49	chr15:43212000-43213400	Active TSS	Fetal Brain Female	brain
50	chr15:43212000-43213400	Active TSS	Stomach Mucosa	stomach

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