Variant report

Variant	rs10952302
Chromosome Location	chr7:150805272-150805273
allele	A/G
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:6)
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	chr7:150804857-150805991	K562	blood:	n/a	n/a
2	YY1	chr7:150805209-150805481	K562	blood:	n/a	n/a
3	POLR2A	chr7:150805055-150805363	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:150804764-150805542	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
2	chr7:150804596..150806378-chr7:150837366..150839413,2	K562	blood:
3	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
4	chr7:150801363..150802996-chr7:150803340..150805376,2	K562	blood:
5	chr7:150799677..150803101-chr7:150803816..150805477,3	MCF-7	breast:
6	chr7:150804055..150806784-chr7:150811973..150814412,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10085680	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10244332	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs10273337	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs1036061	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs1036062	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs1077122	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11766855	1.00[JPT][hapmap]
rs11769150	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs12703112	1.00[CHB][hapmap]
rs34710456	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4236428	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4725389	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs4725988	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs6945607	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951528	0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6957724	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
3	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	120 gene(s)	inside rSNPs	diseases
5	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases
15	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10952302	ATP6V0E2	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150787400-150807800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:150788600-150807400	Weak transcription	Fetal Heart	heart
5	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
6	chr7:150789400-150807800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:150789600-150807000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:150789800-150806600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:150790400-150806200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:150792600-150805400	Weak transcription	A549	lung
11	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
12	chr7:150793400-150805600	Weak transcription	Ovary	ovary
13	chr7:150793400-150808000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150793600-150806600	Weak transcription	Placenta	Placenta
15	chr7:150794000-150808800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:150794800-150807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:150795000-150807800	Weak transcription	NHEK	skin
18	chr7:150797000-150806000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:150797000-150807800	Weak transcription	Fetal Lung	lung
20	chr7:150797000-150808400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:150797400-150808000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:150797600-150807800	Weak transcription	Left Ventricle	heart
24	chr7:150798400-150808000	Weak transcription	Gastric	stomach
25	chr7:150798600-150807200	Weak transcription	Right Ventricle	heart
26	chr7:150798800-150807600	Weak transcription	Brain Substantia Nigra	brain
27	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
28	chr7:150799600-150808000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:150801400-150807800	Weak transcription	Fetal Brain Female	brain
30	chr7:150801800-150806800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:150802000-150807400	Weak transcription	Spleen	Spleen
32	chr7:150802200-150805400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:150802200-150805400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:150802200-150805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:150802200-150806200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:150802200-150806200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:150802200-150806400	Weak transcription	Lung	lung
38	chr7:150802200-150806400	Weak transcription	NHLF	lung
39	chr7:150802200-150807200	Weak transcription	Colonic Mucosa	Colon
40	chr7:150802200-150807400	Weak transcription	Pancreas	Pancrea
41	chr7:150802200-150807800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:150802200-150807800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:150802400-150805600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:150802400-150805600	Weak transcription	NHDF-Ad	bronchial
48	chr7:150802400-150806000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:150802400-150806000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:150802400-150807400	Weak transcription	Brain Hippocampus Middle	brain

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