Variant report

Variant	rs1208645
Chromosome Location	chr10:38132087-38132088
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	chr10:38131044..38133093-chr10:38136807..38138649,2	K562	blood:
2	chr10:38130895..38133262-chr10:38145541..38148167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236514	Chromatin interaction
ENSG00000198105	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10740949	0.80[EUR][1000 genomes]
rs10764149	0.83[EUR][1000 genomes]
rs10827818	0.81[EUR][1000 genomes]
rs10827823	0.95[ASN][1000 genomes]
rs10827824	0.95[ASN][1000 genomes]
rs10827825	0.95[ASN][1000 genomes]
rs10827828	0.97[ASN][1000 genomes]
rs10827829	1.00[ASN][1000 genomes]
rs10827831	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11011326	0.85[ASN][1000 genomes]
rs11011328	0.85[ASN][1000 genomes]
rs11011330	0.85[ASN][1000 genomes]
rs11011331	0.85[ASN][1000 genomes]
rs11011334	0.88[ASN][1000 genomes]
rs11011341	0.80[EUR][1000 genomes]
rs11011346	0.85[EUR][1000 genomes]
rs11011354	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11011355	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11011363	0.97[ASN][1000 genomes]
rs11011366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11011370	0.97[ASN][1000 genomes]
rs11011372	0.97[ASN][1000 genomes]
rs11011378	0.88[ASN][1000 genomes]
rs11011384	0.86[ASN][1000 genomes]
rs11011401	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11011426	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs1148287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11492508	0.97[ASN][1000 genomes]
rs11511139	0.95[ASN][1000 genomes]
rs11511141	0.95[ASN][1000 genomes]
rs11516808	0.93[ASN][1000 genomes]
rs11523837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11595684	0.97[ASN][1000 genomes]
rs11597286	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11599689	0.92[ASN][1000 genomes]
rs1208555	0.87[EUR][1000 genomes]
rs1208556	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1208560	0.87[EUR][1000 genomes]
rs1208573	0.87[EUR][1000 genomes]
rs1208587	0.95[CEU][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs1208591	0.87[EUR][1000 genomes]
rs1208601	0.84[EUR][1000 genomes]
rs1208633	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1208658	0.87[EUR][1000 genomes]
rs1208683	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1208695	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1208716	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1208770	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1208779	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209425	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1212108	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1212617	0.88[EUR][1000 genomes]
rs12267169	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12357391	0.91[ASN][1000 genomes]
rs12357418	0.91[ASN][1000 genomes]
rs12358094	0.95[ASN][1000 genomes]
rs12358108	0.95[ASN][1000 genomes]
rs12359608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12360411	0.95[ASN][1000 genomes]
rs12570939	0.95[ASN][1000 genomes]
rs12571820	0.95[ASN][1000 genomes]
rs12763390	0.97[ASN][1000 genomes]
rs12763409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12768391	0.97[ASN][1000 genomes]
rs12776092	0.86[EUR][1000 genomes]
rs12781703	0.95[ASN][1000 genomes]
rs12782327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12783666	0.95[ASN][1000 genomes]
rs12783722	0.95[ASN][1000 genomes]
rs1322319	0.86[ASN][1000 genomes]
rs1619266	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1735621	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1735629	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1735641	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1742235	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1779015	0.95[ASN][1000 genomes]
rs1779068	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1779075	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1779150	0.95[ASN][1000 genomes]
rs1830612	0.80[EUR][1000 genomes]
rs2076809	0.91[ASN][1000 genomes]
rs2144848	0.87[EUR][1000 genomes]
rs2295872	0.86[ASN][1000 genomes]
rs2472149	0.87[EUR][1000 genomes]
rs2474548	0.83[EUR][1000 genomes]
rs2505233	0.81[EUR][1000 genomes]
rs2738185	0.87[EUR][1000 genomes]
rs2738186	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2738187	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2738190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2738191	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2738193	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2738207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2738208	0.90[CEU][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2738209	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2738219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2749563	0.81[EUR][1000 genomes]
rs2749575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2749577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2749586	0.86[EUR][1000 genomes]
rs2749587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2749588	0.94[CEU][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2749589	0.95[CEU][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2753877	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2753880	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2799496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2799499	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2799501	0.80[ASN][1000 genomes]
rs2891586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34496143	0.91[ASN][1000 genomes]
rs35872666	0.90[ASN][1000 genomes]
rs35951606	0.97[ASN][1000 genomes]
rs3824584	0.97[ASN][1000 genomes]
rs3824585	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4934898	0.80[EUR][1000 genomes]
rs594594	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs598857	0.81[EUR][1000 genomes]
rs61858625	0.91[ASN][1000 genomes]
rs61858626	0.91[ASN][1000 genomes]
rs61859667	0.95[ASN][1000 genomes]
rs61859679	0.91[ASN][1000 genomes]
rs624359	0.90[CEU][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs633400	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs637255	0.90[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs662928	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs675628	0.84[EUR][1000 genomes]
rs688608	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72639533	0.91[ASN][1000 genomes]
rs7476802	0.85[EUR][1000 genomes]
rs9417261	1.00[ASN][1000 genomes]
rs9417262	0.89[ASN][1000 genomes]
rs9417263	1.00[ASN][1000 genomes]
rs9417264	0.97[ASN][1000 genomes]
rs9417265	1.00[ASN][1000 genomes]
rs9417267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9417268	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9418288	1.00[ASN][1000 genomes]
rs9418289	1.00[ASN][1000 genomes]
rs9418291	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9418294	1.00[ASN][1000 genomes]
rs9418297	0.86[ASN][1000 genomes]
rs9418298	0.86[ASN][1000 genomes]
rs9418299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1208645	ZNF25	cis	multi-tissue	Pritchard
rs1208645	ZNF37A	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38115600-38138200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:38115800-38132200	ZNF genes & repeats	Fetal Brain Female	brain
3	chr10:38116200-38137800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:38116600-38135800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr10:38122200-38134400	Weak transcription	Hela-S3	cervix
6	chr10:38123000-38144400	Weak transcription	NHEK	skin
7	chr10:38124000-38144400	Weak transcription	NH-A	brain
8	chr10:38125200-38144400	Weak transcription	Psoas Muscle	Psoas
9	chr10:38125600-38142800	Weak transcription	NHDF-Ad	bronchial
10	chr10:38125800-38132200	Strong transcription	Dnd41	blood
11	chr10:38125800-38143200	Weak transcription	HepG2	liver
12	chr10:38125800-38144400	Weak transcription	HMEC	breast
13	chr10:38126600-38145600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr10:38126800-38134600	Weak transcription	Stomach Mucosa	stomach
15	chr10:38126800-38144800	Weak transcription	Thymus	Thymus
16	chr10:38127000-38134000	Weak transcription	Spleen	Spleen
17	chr10:38127000-38134800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:38127000-38134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:38127000-38135000	Weak transcription	Lung	lung
20	chr10:38127000-38135400	Weak transcription	Esophagus	oesophagus
21	chr10:38127000-38142800	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:38127000-38143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:38127000-38143600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:38127000-38143800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:38127000-38144200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:38127000-38144400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:38127000-38144400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:38127000-38144400	Weak transcription	HSMMtube	muscle
29	chr10:38127000-38144600	Weak transcription	K562	blood
30	chr10:38127000-38145200	Weak transcription	Gastric	stomach
31	chr10:38127000-38145600	Weak transcription	Colonic Mucosa	Colon
32	chr10:38127200-38135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:38127200-38143000	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:38127200-38144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:38127200-38144400	Weak transcription	Osteobl	bone
36	chr10:38127200-38145800	Weak transcription	Placenta	Placenta
37	chr10:38127400-38134600	Weak transcription	Fetal Heart	heart
38	chr10:38127400-38142800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:38127400-38143000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:38127400-38143600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr10:38127400-38144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr10:38127400-38144000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:38127400-38144400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:38127400-38144400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:38127600-38134000	Weak transcription	Adipose Nuclei	Adipose
46	chr10:38127600-38135000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:38127600-38143400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:38127600-38143400	Weak transcription	Brain Anterior Caudate	brain
49	chr10:38127600-38145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:38127800-38143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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