Variant report

Variant	rs2707067
Chromosome Location	chr12:122231368-122231369
allele	G/T
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	EGR1	chr12:122231344-122231771	H1-hESC	embryonic stem cell:	n/a	chr12:122231368-122231381 chr12:122231368-122231378 chr12:122231622-122231632 chr12:122231623-122231638 chr12:122231593-122231606 chr12:122231641-122231651 chr12:122231598-122231608 chr12:122231644-122231655
2	TFAP2C	chr12:122229602-122232569	Hela-S3	cervix:	n/a	chr12:122231521-122231536
3	POLR2A	chr12:122229405-122233468	GM19099	blood:	n/a	n/a
4	ELF1	chr12:122231351-122231720	K562	blood:	n/a	chr12:122231641-122231653 chr12:122231543-122231555 chr12:122231560-122231569 chr12:122231645-122231654
5	POLR2A	chr12:122231256-122234731	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr12:122231155-122237092	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:122231262-122233824	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:122231307-122231789	HUVEC	blood vessel:	n/a	n/a
9	TCF3	chr12:122231347-122232438	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:122231286-122233689	A549	lung:	n/a	n/a
11	SIN3AK20	chr12:122230934-122233186	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr12:122231318-122233921	HepG2	liver:	n/a	n/a
13	MTA3	chr12:122229860-122233383	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:122229522-122241538	HepG2	liver:	n/a	n/a
15	BCL3	chr12:122229500-122233523	A549	lung:	n/a	chr12:122231001-122231010 chr12:122229915-122229923 chr12:122231561-122231570 chr12:122231384-122231397 chr12:122232267-122232280 chr12:122231383-122231396
16	YY1	chr12:122231212-122231776	H1-hESC	embryonic stem cell:	n/a	chr12:122231560-122231569 chr12:122231376-122231387 chr12:122231645-122231654 chr12:122231598-122231607 chr12:122231563-122231577
17	TAF1	chr12:122231070-122231882	ECC-1	luminal epithelium:	n/a	n/a
18	ZNF143	chr12:122230735-122232535	GM12878	blood:	n/a	chr12:122231317-122231335 chr12:122232277-122232287 chr12:122231181-122231191 chr12:122231312-122231331
19	POLR2A	chr12:122230693-122233942	HepG2	liver:	n/a	n/a
20	CREB1	chr12:122231346-122232520	A549	lung:	n/a	n/a
21	MAX	chr12:122231363-122231563	HepG2	liver:	n/a	n/a
22	MAZ	chr12:122230686-122233217	GM12878	blood:	n/a	chr12:122231986-122231996 chr12:122231622-122231632
23	POLR2A	chr12:122231272-122233893	GM12878	blood:	n/a	n/a
24	ZEB1	chr12:122229267-122233709	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:122231247-122234639	GM12878	blood:	n/a	n/a
26	EBF1	chr12:122231262-122232451	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:122231317-122233369	GM12878	blood:	n/a	chr12:122231561-122231570 chr12:122231384-122231397 chr12:122232267-122232280 chr12:122231383-122231396
28	POLR2A	chr12:122231351-122231909	HepG2	liver:	n/a	n/a
29	YY1	chr12:122231360-122232437	ECC-1	luminal epithelium:	n/a	chr12:122231891-122231905 chr12:122231560-122231569 chr12:122231376-122231387 chr12:122231645-122231654 chr12:122232264-122232278 chr12:122231598-122231607 chr12:122231563-122231577
30	SP1	chr12:122231327-122233297	A549	lung:	n/a	chr12:122231603-122231612 chr12:122231599-122231608 chr12:122231622-122231631 chr12:122231599-122231613 chr12:122231598-122231608 chr12:122231604-122231613 chr12:122231597-122231609 chr12:122231597-122231609 chr12:122231622-122231632 chr12:122231602-122231614 chr12:122231623-122231632 chr12:122231599-122231608 chr12:122231604-122231613 chr12:122231787-122231801 chr12:122231598-122231608 chr12:122231602-122231614 chr12:122231891-122231902 chr12:122231905-122231926 chr12:122232436-122232446 chr12:122231598-122231607 chr12:122231622-122231632 chr12:122231366-122231380 chr12:122231621-122231633 chr12:122231621-122231633
31	POLR2A	chr12:122231231-122242190	PANC-1	pancreas:	n/a	n/a
32	SMARCB1	chr12:122229367-122233602	Hela-S3	cervix:	n/a	chr12:122230186-122230195
33	RELA	chr12:122230737-122232595	GM12891	blood:	n/a	chr12:122231268-122231277 chr12:122231268-122231277
34	CREB1	chr12:122229519-122233581	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:122229562-122233251	GM18505	blood:	n/a	n/a
36	POLR2A	chr12:122230689-122233658	GM18951	blood:	n/a	n/a
37	POLR2A	chr12:122231305-122231678	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:122231336-122231650	GM12892	blood:	n/a	n/a
39	GATA3	chr12:122231342-122233422	A549	lung:	n/a	chr12:122232831-122232839
40	POLR2A	chr12:122231277-122233407	PANC-1	pancreas:	n/a	n/a
41	TCF12	chr12:122230639-122232666	ECC-1	luminal epithelium:	n/a	chr12:122231871-122231881 chr12:122232576-122232586
42	POLR2A	chr12:122230935-122231759	GM12891	blood:	n/a	n/a
43	PML	chr12:122231313-122233175	MCF-7	breast:	n/a	n/a
44	YY1	chr12:122231287-122231756	GM12891	blood:	n/a	chr12:122231560-122231569 chr12:122231376-122231387 chr12:122231645-122231654 chr12:122231598-122231607 chr12:122231563-122231577
45	NR2F2	chr12:122230629-122232685	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:122230834-122233194	HCT-116	colon:	n/a	n/a
47	POLR2A	chr12:122230552-122233270	GM15510	blood:	n/a	n/a
48	POLR2A	chr12:122230384-122234714	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr12:122229543-122233541	GM12892	blood:	n/a	n/a
50	STAT1	chr12:122231057-122231724	GM12878	blood:	n/a	chr12:122231685-122231696 chr12:122231600-122231612 chr12:122231244-122231256

No.	Distal block	Cell Line	Cell type
1	chr12:122231121..122231717-chr7:44836710..44837609,2	Hela-S3	cervix:
2	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
3	chr12:122015890..122017624-chr12:122230329..122231836,2	MCF-7	breast:
4	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
5	chr12:122149249..122152147-chr12:122229581..122233327,7	MCF-7	breast:
6	chr12:116997056..116999076-chr12:122230249..122232872,2	K562	blood:
7	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
8	chr12:122188669..122193873-chr12:122227176..122233304,8	MCF-7	breast:
9	chr12:122230934..122231621-chr19:39926580..39927261,2	Hela-S3	cervix:
10	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
11	chr12:120727170..120730056-chr12:122229573..122231675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272849	TF binding region
RHOF	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000171471	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004390	0.89[EUR][1000 genomes]
rs11043202	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043203	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168663	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1168664	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168665	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168666	0.91[EUR][1000 genomes]
rs1168668	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168671	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168672	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168673	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12307227	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313997	0.89[ASN][1000 genomes]
rs12314801	0.89[ASN][1000 genomes]
rs12820413	0.82[ASN][1000 genomes]
rs12823194	0.82[EUR][1000 genomes]
rs1667578	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1667579	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1795965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795966	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2019561	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019562	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2122266	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2707057	0.82[ASN][1000 genomes]
rs2707066	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs712852	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7957564	0.89[EUR][1000 genomes]
rs7974348	0.90[EUR][1000 genomes]
rs895951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895952	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895953	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895954	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs895957	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921286	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921287	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930665	0.90[EUR][1000 genomes]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription 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 miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
2	chr12:122223200-122231400	Weak transcription	HSMM	muscle
3	chr12:122225200-122231400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:122225800-122233200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:122227200-122231600	Weak transcription	K562	blood
6	chr12:122227400-122232000	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:122228600-122232400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122229200-122231400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:122229200-122232200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:122229400-122231400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:122229400-122231400	Enhancers	HMEC	breast
12	chr12:122229400-122232000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:122229400-122232200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr12:122229400-122232400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:122229400-122233000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:122229400-122233000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr12:122229600-122235400	Enhancers	Fetal Heart	heart
18	chr12:122229800-122233000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122230000-122231800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:122230000-122233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:122230200-122231400	Active TSS	Liver	Liver
22	chr12:122230200-122231600	Weak transcription	HSMMtube	muscle
23	chr12:122230200-122231800	Active TSS	Esophagus	oesophagus
24	chr12:122230200-122232200	Flanking Active TSS	Placenta	Placenta
25	chr12:122230200-122233000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr12:122230200-122233000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr12:122230400-122231600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:122230400-122231800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:122230400-122231800	Active TSS	Brain Cingulate Gyrus	brain
30	chr12:122230400-122231800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:122230400-122232000	Active TSS	Left Ventricle	heart
32	chr12:122230400-122232000	Active TSS	Small Intestine	intestine
33	chr12:122230400-122232000	Flanking Active TSS	Stomach Mucosa	stomach
34	chr12:122230400-122232400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr12:122230400-122232800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:122230600-122231600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:122230600-122231800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:122230600-122231800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:122230600-122231800	Active TSS	Brain Anterior Caudate	brain
40	chr12:122230600-122231800	Active TSS	Lung	lung
41	chr12:122230600-122231800	Active TSS	Right Atrium	heart
42	chr12:122230600-122232000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:122230600-122232000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
44	chr12:122230600-122232000	Active TSS	Gastric	stomach
45	chr12:122230600-122232200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:122230600-122232200	Active TSS	Fetal Brain Female	brain
47	chr12:122230600-122232400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:122230600-122232400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr12:122230600-122232400	Active TSS	Primary T cells from cord blood	blood
50	chr12:122230600-122232400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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