Variant report

Variant	rs10509640
Chromosome Location	chr10:93684146-93684147
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93666065..93670682-chr10:93680624..93684315,6	K562	blood:
2	chr10:93667092..93669492-chr10:93682952..93684892,2	MCF-7	breast:
3	chr10:93683784..93685385-chr10:93700880..93703617,2	K562	blood:
4	chr10:93683550..93685113-chr17:59644992..59647516,2	MCF-7	breast:
5	chr10:93668102..93670664-chr10:93683184..93685213,2	K562	blood:
6	chr10:93666676..93671284-chr10:93682037..93685018,8	MCF-7	breast:
7	chr10:93683904..93684852-chr19:3970451..3971123,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000167657	Chromatin interaction
ENSG00000174721	Chromatin interaction
ENSG00000272817	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10430650	0.90[ASN][1000 genomes]
rs10786024	0.88[ASN][1000 genomes]
rs10786025	0.86[ASN][1000 genomes]
rs10786026	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10786027	0.81[ASN][1000 genomes]
rs10882019	0.84[JPT][hapmap]
rs1104012	0.80[JPT][hapmap]
rs11186744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11817194	1.00[JPT][hapmap]
rs12241256	0.90[LWK][hapmap];0.96[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs12251446	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12253972	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12254369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12256118	0.84[JPT][hapmap]
rs12259055	0.86[ASN][1000 genomes]
rs12262352	0.86[ASN][1000 genomes]
rs12263532	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12263639	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12266974	0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12267763	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12765070	0.87[ASN][1000 genomes]
rs1581240	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17107211	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1711850	0.84[JPT][hapmap]
rs1935864	0.86[GIH][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap]
rs2048901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2252200	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2676806	0.83[ASN][1000 genomes]
rs2676821	0.86[ASN][1000 genomes]
rs2676823	0.86[ASN][1000 genomes]
rs2676824	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2792019	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4288679	0.90[ASN][1000 genomes]
rs4509678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4642987	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4933703	0.86[ASN][1000 genomes]
rs6583801	0.84[JPT][hapmap]
rs7070076	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7071659	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7077506	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7901434	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7904900	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7909870	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7911552	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7912721	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7915659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924014	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833364	0.84[JPT][hapmap]
rs833365	0.84[JPT][hapmap]
rs833368	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs833380	0.84[JPT][hapmap]
rs833383	0.83[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10509640	BTAF1	cis	multi-tissue	Pritchard
rs10509640	MARCH5	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93682400-93685200	Active TSS	K562	blood
2	chr10:93682800-93684200	Active TSS	Brain Hippocampus Middle	brain
3	chr10:93682800-93684200	Active TSS	Fetal Brain Female	brain
4	chr10:93682800-93684200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr10:93682800-93684400	Active TSS	Brain Germinal Matrix	brain
6	chr10:93682800-93684400	Active TSS	Colon Smooth Muscle	Colon
7	chr10:93682800-93684400	Active TSS	Rectal Smooth Muscle	rectum
8	chr10:93682800-93684400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr10:93682800-93684600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr10:93682800-93684800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr10:93682800-93684800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:93682800-93684800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:93682800-93684800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:93682800-93684800	Active TSS	NHLF	lung
15	chr10:93682800-93685000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:93682800-93685000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:93682800-93685000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:93682800-93685000	Active TSS	NHDF-Ad	bronchial
19	chr10:93682800-93685200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr10:93682800-93685200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:93682800-93685200	Active TSS	HMEC	breast
22	chr10:93682800-93685600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:93682800-93685600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:93682800-93685600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:93682800-93685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:93682800-93689400	Active TSS	GM12878-XiMat	blood
27	chr10:93683000-93684200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:93683000-93684200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr10:93683000-93684200	Active TSS	Esophagus	oesophagus
30	chr10:93683000-93684200	Active TSS	Fetal Brain Male	brain
31	chr10:93683000-93684200	Active TSS	Left Ventricle	heart
32	chr10:93683000-93684200	Active TSS	Pancreas	Pancrea
33	chr10:93683000-93684400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:93683000-93684400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:93683000-93684400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr10:93683000-93684400	Active TSS	Brain Cingulate Gyrus	brain
37	chr10:93683000-93684600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr10:93683000-93684600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:93683000-93684600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:93683000-93684600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr10:93683000-93684600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr10:93683000-93684600	Active TSS	Stomach Mucosa	stomach
43	chr10:93683000-93684800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:93683000-93684800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:93683000-93684800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr10:93683000-93684800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:93683000-93684800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:93683000-93684800	Active TSS	Fetal Muscle Leg	muscle
49	chr10:93683000-93684800	Active TSS	Ovary	ovary
50	chr10:93683000-93684800	Active TSS	Psoas Muscle	Psoas

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