Variant report

Variant	rs62482952
Chromosome Location	chr7:102075632-102075633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102075506-102075710	HepG2	liver:	n/a	n/a
2	MXI1	chr7:102072732-102075632	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:102075545-102076025	HL-60	blood:	n/a	n/a
4	POLR2A	chr7:102072954-102076059	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102074140..102075708-chr7:102076253..102079177,2	MCF-7	breast:
2	chr7:102044255..102045812-chr7:102074235..102076813,2	K562	blood:
3	chr7:101927893..101931251-chr7:102072337..102075849,4	MCF-7	breast:
4	chr7:102045721..102047681-chr7:102073858..102075967,2	MCF-7	breast:
5	chr7:102074336..102076927-chr7:102105688..102108273,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239480	TF binding region
ORAI2	TF binding region
ENSG00000221510	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000161036	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160991	Chromatin interaction
ENSG00000266715	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10229440	1.00[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]
rs2103229	0.81[AFR][1000 genomes]
rs28879187	0.81[AFR][1000 genomes]
rs2950183	0.85[ASN][1000 genomes]
rs3823656	1.00[ASN][1000 genomes]
rs4584084	1.00[ASN][1000 genomes]
rs55823933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893391	1.00[AMR][1000 genomes];0.98[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]
rs62482951	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102074200-102075800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:102074200-102076400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr7:102074600-102076000	Flanking Active TSS	Primary B cells from peripheral blood	blood
4	chr7:102074600-102085400	Weak transcription	Gastric	stomach
5	chr7:102074600-102086800	Weak transcription	Aorta	Aorta
6	chr7:102074800-102076200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr7:102074800-102080400	Weak transcription	Small Intestine	intestine
8	chr7:102075000-102075800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:102075000-102075800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:102075000-102076000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:102075000-102076000	Weak transcription	Right Ventricle	heart
12	chr7:102075000-102076400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:102075000-102076400	Enhancers	Spleen	Spleen
14	chr7:102075000-102079200	Weak transcription	HSMMtube	muscle
15	chr7:102075000-102079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:102075000-102080400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:102075000-102080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:102075000-102080600	Weak transcription	HSMM	muscle
19	chr7:102075000-102080800	Weak transcription	Right Atrium	heart
20	chr7:102075000-102082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:102075000-102086800	Weak transcription	Fetal Lung	lung
22	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:102075200-102075800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:102075200-102075800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:102075200-102075800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:102075200-102076000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:102075200-102076000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:102075200-102076000	Enhancers	Brain Anterior Caudate	brain
30	chr7:102075200-102076000	Enhancers	Brain Germinal Matrix	brain
31	chr7:102075200-102076000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:102075200-102076400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:102075200-102076600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:102075200-102076600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:102075200-102076600	Enhancers	Fetal Thymus	thymus
36	chr7:102075200-102076800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:102075200-102077200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:102075200-102077200	Weak transcription	Brain Substantia Nigra	brain
39	chr7:102075200-102079000	Weak transcription	Fetal Intestine Small	intestine
40	chr7:102075200-102079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:102075200-102079200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:102075200-102079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:102075200-102079200	Weak transcription	Ovary	ovary
44	chr7:102075200-102079400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:102075200-102079400	Weak transcription	NHLF	lung
46	chr7:102075200-102079600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:102075200-102079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:102075200-102080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:102075200-102080400	Weak transcription	HMEC	breast
50	chr7:102075200-102080400	Weak transcription	NHDF-Ad	bronchial

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