Variant report

Variant	rs10230113
Chromosome Location	chr7:150837529-150837530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150837331..150838153-chr7:150869329..150870043,2	MCF-7	breast:
2	chr7:150835198..150837952-chr7:150936703..150939564,2	K562	blood:
3	chr7:150804596..150806378-chr7:150837366..150839413,2	K562	blood:
4	chr7:150830978..150833518-chr7:150837154..150839464,2	MCF-7	breast:
5	chr7:150837113..150838926-chr7:150864351..150866031,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164900	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000272661	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1001760	0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs1430622	0.87[ASN][1000 genomes]
rs2288651	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2288652	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs4725999	0.81[CHB][hapmap];0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs62489626	0.81[ASN][1000 genomes]
rs6464132	0.85[CHD][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs6947988	0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs768403	0.80[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10230113	ATP6V0E2	cis	parietal	SCAN
rs10230113	GIMAP2	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:150820400-150842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:150823200-150839600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:150823400-150841800	Strong transcription	Lung	lung
12	chr7:150823600-150841400	Genic enhancers	Fetal Muscle Leg	muscle
13	chr7:150823600-150842400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:150823800-150839800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:150823800-150842800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:150824000-150839000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:150824000-150842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:150824000-150842600	Strong transcription	Liver	Liver
19	chr7:150824000-150843600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:150824200-150842800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:150824400-150839200	Strong transcription	Adipose Nuclei	Adipose
22	chr7:150824600-150839400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:150824600-150841800	Strong transcription	Esophagus	oesophagus
24	chr7:150824800-150842400	Strong transcription	Ovary	ovary
25	chr7:150825000-150839600	Strong transcription	Pancreas	Pancrea
26	chr7:150825400-150842600	Weak transcription	Thymus	Thymus
27	chr7:150825600-150839400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:150827200-150842600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:150827600-150842800	Weak transcription	Fetal Kidney	kidney
30	chr7:150828000-150840400	Weak transcription	GM12878-XiMat	blood
31	chr7:150829000-150842600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:150829400-150841400	Strong transcription	Colonic Mucosa	Colon
33	chr7:150829400-150842600	Strong transcription	Placenta	Placenta
34	chr7:150829600-150845400	Weak transcription	NHDF-Ad	bronchial
35	chr7:150829800-150837800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:150830200-150844600	Weak transcription	Small Intestine	intestine
37	chr7:150830400-150838000	Strong transcription	Brain Anterior Caudate	brain
38	chr7:150831400-150838400	Strong transcription	Fetal Intestine Small	intestine
39	chr7:150831800-150842600	Strong transcription	Osteobl	bone
40	chr7:150832000-150838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:150832200-150839800	Weak transcription	Stomach Mucosa	stomach
42	chr7:150832400-150844200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:150832600-150841200	Enhancers	Fetal Brain Male	brain
44	chr7:150832600-150841400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:150832800-150838400	Weak transcription	A549	lung
46	chr7:150833000-150837600	Weak transcription	Fetal Lung	lung
47	chr7:150833000-150837800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:150833000-150838600	Weak transcription	Primary T cells from cord blood	blood
49	chr7:150833000-150840400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:150833000-150845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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