Variant report

Variant	rs62482951
Chromosome Location	chr7:102073463-102073464
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	chr7:102073270-102075295	GM18951	blood:	n/a	n/a
2	ZBTB7A	chr7:102073266-102074667	ECC-1	luminal epithelium:	n/a	n/a
3	RELA	chr7:102073437-102074076	GM19099	blood:	n/a	chr7:102073625-102073634 chr7:102073625-102073634
4	ZEB1	chr7:102073436-102074193	GM12878	blood:	n/a	chr7:102073799-102073808 chr7:102073800-102073807
5	POLR2A	chr7:102073446-102073470	HepG2	liver:	n/a	n/a
6	BHLHE40	chr7:102073249-102074177	GM12878	blood:	n/a	chr7:102074152-102074168 chr7:102073706-102073722
7	POLR2A	chr7:102073455-102074222	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:102073270-102075060	GM12892	blood:	n/a	n/a
9	MAZ	chr7:102073228-102075160	IMR90	lung:	n/a	chr7:102073903-102073914 chr7:102074679-102074689 chr7:102073904-102073913 chr7:102073906-102073913 chr7:102073895-102073911
10	POLR2A	chr7:102073337-102073899	SK-N-MC	brain:	n/a	n/a
11	MXI1	chr7:102072732-102075632	SK-N-SH	brain:	n/a	n/a
12	ZNF384	chr7:102073072-102073622	GM12878	blood:	n/a	n/a
13	PAX5	chr7:102073227-102073685	GM12878	blood:	n/a	n/a
14	PAX5	chr7:102073374-102074280	GM12878	blood:	n/a	n/a
15	RUNX3	chr7:102073413-102074561	GM12878	blood:	n/a	chr7:102073637-102073652
16	RELA	chr7:102073267-102074756	GM12891	blood:	n/a	chr7:102073625-102073634 chr7:102073625-102073634
17	POLR2A	chr7:102073249-102074571	GM12878	blood:	n/a	n/a
18	NFIC	chr7:102073399-102073806	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:102073100-102075393	Raji	blood:	n/a	n/a
20	POLR2A	chr7:102072954-102076059	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:102073245-102075237	GM18505	blood:	n/a	n/a
22	EP300	chr7:102073444-102073924	GM12878	blood:	n/a	chr7:102073609-102073625
23	MAX	chr7:102073442-102074517	GM12878	blood:	n/a	chr7:102073903-102073914 chr7:102073904-102073913 chr7:102073906-102073913 chr7:102073895-102073911
24	ZBTB7A	chr7:102073365-102074492	K562	blood:	n/a	n/a
25	POLR2A	chr7:102073439-102074289	ECC-1	luminal epithelium:	n/a	n/a
26	MTA3	chr7:102071138-102073907	GM12878	blood:	n/a	n/a
27	JUN	chr7:102073396-102075016	K562	blood:	n/a	chr7:102074138-102074147 chr7:102074161-102074170
28	POLR2A	chr7:102073118-102074538	GM19099	blood:	n/a	n/a
29	POLR2A	chr7:102073243-102074419	GM18526	blood:	n/a	n/a
30	POLR2A	chr7:102073459-102074249	H1-hESC	embryonic stem cell:	n/a	n/a
31	PAX5	chr7:102073335-102073703	GM12878	blood:	n/a	n/a
32	EBF1	chr7:102073420-102073932	GM12878	blood:	n/a	n/a
33	TCF3	chr7:102073443-102074406	GM12878	blood:	n/a	n/a
34	RUNX3	chr7:102073191-102074330	GM12878	blood:	n/a	chr7:102073637-102073652
35	POLR2A	chr7:102073228-102074448	GM12878	blood:	n/a	n/a
36	EBF1	chr7:102073069-102073743	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:102073266-102074508	GM15510	blood:	n/a	n/a
38	POLR2A	chr7:102073453-102073504	HUVEC	blood vessel:	n/a	n/a
39	TBL1XR1	chr7:102073434-102074739	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:102071269-102073515	GM12891	blood:	n/a	n/a
41	MAZ	chr7:102073266-102074939	GM12878	blood:	n/a	chr7:102073903-102073914 chr7:102074679-102074689 chr7:102073904-102073913 chr7:102073906-102073913 chr7:102073895-102073911
42	RCOR1	chr7:102073256-102075028	GM12878	blood:	n/a	n/a
43	ZBTB7A	chr7:102073313-102074572	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr7:102073050-102074683	GM12878	blood:	n/a	n/a
45	ELF1	chr7:102073329-102074521	GM12878	blood:	n/a	chr7:102073700-102073712
46	CREB1	chr7:102073294-102074185	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:102073458-102074553	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr7:102073278-102074560	GM19193	blood:	n/a	n/a
49	POLR2A	chr7:102071905-102075388	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101927893..101931251-chr7:102072337..102075849,4	MCF-7	breast:
2	chr7:101928402..101930093-chr7:102073347..102075211,2	K562	blood:

Variant related genes	Relation type
ORAI2	TF binding region
ENSG00000160999	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10229440	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134521	0.95[ASN][1000 genomes]
rs12672177	0.90[ASN][1000 genomes]
rs17135196	0.91[ASN][1000 genomes]
rs2950183	0.85[ASN][1000 genomes]
rs3823656	1.00[ASN][1000 genomes]
rs4584084	1.00[ASN][1000 genomes]
rs55823933	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893391	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55953136	1.00[ASN][1000 genomes]
rs56411810	0.91[ASN][1000 genomes]
rs62482947	0.95[ASN][1000 genomes]
rs62482952	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482953	0.99[ASN][1000 genomes]
rs62483800	1.00[ASN][1000 genomes]
rs6958346	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	esv1832541	chr7:102072448-102328097	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr7:102051400-102074400	Weak transcription	Fetal Heart	heart
2	chr7:102066200-102074000	Weak transcription	Fetal Lung	lung
3	chr7:102066400-102073600	Weak transcription	NHDF-Ad	bronchial
4	chr7:102067400-102073600	Weak transcription	Hela-S3	cervix
5	chr7:102067800-102073600	Weak transcription	Gastric	stomach
6	chr7:102070200-102073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:102070400-102073600	Weak transcription	Lung	lung
8	chr7:102071000-102074400	Enhancers	Fetal Brain Male	brain
9	chr7:102071200-102073600	Enhancers	K562	blood
10	chr7:102071400-102073600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr7:102071400-102073800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:102071400-102074800	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:102071600-102073600	Enhancers	Brain Substantia Nigra	brain
14	chr7:102072000-102073600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:102072000-102073600	Flanking Active TSS	Thymus	Thymus
16	chr7:102072000-102073800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:102072200-102073600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:102072200-102073800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:102072400-102073600	Enhancers	Brain Angular Gyrus	brain
20	chr7:102072600-102073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:102072600-102073600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:102072600-102073600	Weak transcription	NHEK	skin
23	chr7:102072600-102074800	Active TSS	Fetal Brain Female	brain
24	chr7:102072800-102073600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:102073000-102073600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr7:102073000-102073600	Enhancers	Liver	Liver
27	chr7:102073000-102073800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr7:102073000-102073800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr7:102073000-102074400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:102073000-102074400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:102073000-102074600	Active TSS	Osteobl	bone
32	chr7:102073000-102075000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:102073200-102073600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:102073200-102073600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:102073200-102073800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:102073200-102073800	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr7:102073200-102073800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr7:102073200-102073800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:102073200-102073800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:102073200-102073800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr7:102073200-102074400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:102073200-102074400	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:102073200-102074600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:102073200-102074600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr7:102073200-102074600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:102073200-102074600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:102073200-102074600	Active TSS	Brain Anterior Caudate	brain
48	chr7:102073200-102074800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:102073200-102074800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:102073200-102074800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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