Variant report

Variant	rs2686387
Chromosome Location	chr12:121648870-121648871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:121647596-121648930	K562	blood:	n/a	n/a
2	NFIC	chr12:121648274-121649001	GM12878	blood:	n/a	n/a
3	CTCF	chr12:121648800-121648950	GM12875	blood:	n/a	n/a
4	CTCF	chr12:121647366-121649096	A549	lung:	n/a	chr12:121647877-121647890
5	POLR2A	chr12:121648716-121648982	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr12:121648860-121649010	GM06990	blood:	n/a	n/a
7	POLR2A	chr12:121647671-121648976	GM12878	blood:	n/a	n/a
8	CTCF	chr12:121648774-121649060	GM12878	blood:	n/a	n/a
9	MTA3	chr12:121647568-121648945	GM12878	blood:	n/a	n/a
10	MXI1	chr12:121647423-121648921	IMR90	lung:	n/a	n/a
11	CTCF	chr12:121648760-121648910	BJ	skin:	n/a	n/a
12	RPC155	chr12:121648182-121648882	Hela-S3	cervix:	n/a	n/a
13	EBF1	chr12:121648727-121649036	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr12:121647613-121649037	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:121648820-121648970	HRE	kidney:	n/a	n/a
16	RUNX3	chr12:121647604-121649077	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:121647552-121648880	HL-60	blood:	n/a	n/a
18	POLR2A	chr12:121648544-121649046	GM12878	blood:	n/a	n/a
19	MYC	chr12:121648802-121648930	K562	blood:	n/a	n/a
20	CTCF	chr12:121648700-121648930	HRE	kidney:	n/a	n/a
21	POLR2A	chr12:121647562-121649077	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:121647527-121648952	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr12:121648800-121648950	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:121648840-121648990	HBMEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:121647547-121648882	GM12892	blood:	n/a	n/a
26	CTCF	chr12:121648720-121648870	GM12864	blood:	n/a	n/a
27	EP300	chr12:121647864-121648891	GM12878	blood:	n/a	chr12:121647953-121647962 chr12:121648149-121648165 chr12:121647875-121647884 chr12:121648195-121648211
28	JUN	chr12:121647187-121649065	K562	blood:	n/a	chr12:121647752-121647761
29	EBF1	chr12:121648753-121649039	GM12878	blood:	n/a	n/a
30	MAX	chr12:121647707-121649000	GM12878	blood:	n/a	chr12:121648179-121648190
31	RUNX3	chr12:121647624-121649015	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121647374..121649635-chr12:121733730..121735639,2	K562	blood:
2	chr12:121648201..121650106-chr12:121683652..121685529,2	K562	blood:
3	chr12:121647374..121649276-chr12:121733272..121735230,2	K562	blood:
4	chr12:121521510..121523846-chr12:121648119..121649813,2	MCF-7	breast:
5	chr12:121646473..121649457-chr12:121658577..121662737,5	MCF-7	breast:
6	chr12:121569906..121572539-chr12:121647803..121649868,2	MCF-7	breast:
7	chr12:121646670..121649250-chr12:121789949..121791934,2	K562	blood:
8	chr12:121452592..121454438-chr12:121647839..121649379,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RX4	TF binding region
ENSG00000157895	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000089041	Chromatin interaction
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10774587	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774589	0.90[JPT][hapmap]
rs10849855	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849858	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065479	0.90[AMR][1000 genomes]
rs11065486	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1180051	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1182945	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1629287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1653622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653623	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1718117	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071271	0.84[ASN][1000 genomes]
rs2393849	0.87[ASN][1000 genomes]
rs2393850	0.85[ASN][1000 genomes]
rs25643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2567978	0.89[ASN][1000 genomes]
rs2567980	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2567993	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2567994	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668235	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2668252	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2686362	0.89[AMR][1000 genomes]
rs2686363	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2686388	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2942063	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58232824	0.87[ASN][1000 genomes]
rs6489799	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs725135	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7298368	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs930186	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930187	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121647200-121649000	Active TSS	Small Intestine	intestine
2	chr12:121647200-121649400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121647200-121649400	Active TSS	Colonic Mucosa	Colon
4	chr12:121647400-121649000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:121647400-121649000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:121647400-121649000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:121647400-121649000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:121647400-121649000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:121647400-121649000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:121647400-121649000	Active TSS	Right Ventricle	heart
11	chr12:121647600-121649000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:121647600-121649000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:121647600-121649000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:121647600-121649000	Active TSS	Liver	Liver
15	chr12:121647600-121649000	Active TSS	Lung	lung
16	chr12:121647600-121649000	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:121647800-121649000	Active TSS	Gastric	stomach
18	chr12:121647800-121649400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:121648200-121649000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:121648200-121649000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr12:121648200-121649000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr12:121648200-121649000	Flanking Active TSS	Fetal Thymus	thymus
23	chr12:121648200-121649000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr12:121648200-121649200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:121648400-121649000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:121648400-121649000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:121648400-121649000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:121648400-121649000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:121648400-121649000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:121648400-121649000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:121648400-121649000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:121648400-121649000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121648400-121649000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:121648400-121649000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:121648400-121649000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:121648400-121649000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:121648400-121649000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr12:121648400-121649000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:121648400-121649000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr12:121648400-121649000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:121648400-121649000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:121648400-121649000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:121648400-121649000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:121648400-121649000	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr12:121648400-121649000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:121648400-121649000	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:121648400-121649000	Flanking Active TSS	Fetal Lung	lung
48	chr12:121648400-121649000	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr12:121648400-121649000	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr12:121648400-121649000	Flanking Active TSS	Fetal Stomach	stomach

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