Variant report

Variant	rs7916500
Chromosome Location	chr10:5013772-5013773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5012978..5016166-chr10:5111425..5114136,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11252861	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12264914	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs12774134	1.00[JPT][hapmap]
rs1937859	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3890593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs3923936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs3925947	0.82[YRI][hapmap]
rs4332428	1.00[JPT][hapmap]
rs4344395	1.00[JPT][hapmap]
rs4397735	1.00[JPT][hapmap]
rs4445550	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs6601882	0.82[YRI][hapmap]
rs6650153	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7068923	1.00[JPT][hapmap]
rs7076886	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs7083234	0.82[YRI][hapmap]
rs7908994	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7909151	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7915365	1.00[JPT][hapmap]
rs7916644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7916500	AKR1C2	cis	multi-tissue	Pritchard
rs7916500	AKR1C1	cis	Whole Blood	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4998200-5023800	Weak transcription	Gastric	stomach
2	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
4	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
5	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
6	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
7	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:5007200-5021600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:5007200-5023200	Weak transcription	Fetal Intestine Large	intestine
10	chr10:5007200-5023600	Weak transcription	Fetal Intestine Small	intestine
11	chr10:5007200-5023800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:5007400-5023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:5007400-5023800	Weak transcription	Right Ventricle	heart
14	chr10:5007400-5024200	Weak transcription	NHEK	skin
15	chr10:5008200-5021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
17	chr10:5008800-5015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:5008800-5023200	Weak transcription	Stomach Mucosa	stomach
19	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
20	chr10:5009600-5023600	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:5009600-5024000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:5009800-5021800	Strong transcription	Liver	Liver
24	chr10:5010200-5024000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:5010800-5023800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:5011400-5023000	Weak transcription	K562	blood
27	chr10:5011600-5023800	Weak transcription	Lung	lung
28	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
29	chr10:5011800-5014800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:5011800-5023800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:5011800-5024200	Weak transcription	Aorta	Aorta
32	chr10:5011800-5027000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
34	chr10:5012000-5018600	Weak transcription	Brain Germinal Matrix	brain
35	chr10:5012000-5024000	Weak transcription	Osteobl	bone
36	chr10:5012000-5027000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:5012200-5018800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:5012200-5023800	Weak transcription	Ovary	ovary
39	chr10:5012800-5013800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:5012800-5014000	Weak transcription	A549	lung
41	chr10:5012800-5014800	Weak transcription	Adipose Nuclei	Adipose
42	chr10:5012800-5015600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:5012800-5015600	Weak transcription	HepG2	liver
44	chr10:5012800-5015800	Weak transcription	NHDF-Ad	bronchial
45	chr10:5013200-5023800	Weak transcription	Pancreas	Pancrea

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