Variant report

Variant	rs1711850
Chromosome Location	chr10:93842826-93842827
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93832600..93835291-chr10:93841541..93844058,2	K562	blood:
2	chr10:93842541..93844667-chr10:94333754..94335512,2	K562	blood:

Variant related genes	Relation type
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10509640	0.84[JPT][hapmap]
rs10786026	0.88[JPT][hapmap]
rs10882019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1104012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs11186825	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11186828	0.90[ASN][1000 genomes]
rs11817194	0.84[JPT][hapmap]
rs11818152	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12254369	0.84[JPT][hapmap]
rs12256118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263532	0.93[JPT][hapmap]
rs1229580	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17107472	1.00[JPT][hapmap]
rs1935864	0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2048901	0.84[JPT][hapmap]
rs2252200	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs2676824	0.81[GIH][hapmap];0.84[JPT][hapmap]
rs2792019	0.84[JPT][hapmap]
rs2797645	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4486531	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4509678	0.84[JPT][hapmap]
rs4642987	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs55737168	0.80[ASN][1000 genomes]
rs55901992	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6583801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7070076	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs7077333	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7093730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73314327	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7909870	0.84[JPT][hapmap]
rs7911552	0.82[GIH][hapmap];0.84[JPT][hapmap]
rs7912721	0.88[JPT][hapmap]
rs7916626	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917088	0.86[ASW][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap]
rs833364	1.00[ASW][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs833368	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs833380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs932820	0.86[ASW][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap]
rs9787645	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051226	chr10:93711296-93915586	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540745	chr10:93711296-93915586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1042818	chr10:93715483-93855032	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895893	chr10:93747260-93875264	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1711850	BTAF1	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93808400-93844400	Weak transcription	Primary T cells from cord blood	blood
2	chr10:93815400-93847200	Weak transcription	Hela-S3	cervix
3	chr10:93828800-93843000	Weak transcription	Osteobl	bone
4	chr10:93834400-93843400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:93836000-93853200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:93837400-93847600	Weak transcription	HUVEC	blood vessel
7	chr10:93837600-93847200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:93837600-93847600	Weak transcription	Colonic Mucosa	Colon
9	chr10:93839000-93847600	Weak transcription	Placenta	Placenta
10	chr10:93840600-93843200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:93841000-93847400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr10:93841000-93847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:93841200-93843000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:93841200-93843000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:93841200-93843000	Weak transcription	Left Ventricle	heart
16	chr10:93841200-93843000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:93841200-93843000	Weak transcription	Small Intestine	intestine
18	chr10:93841200-93843600	Weak transcription	Psoas Muscle	Psoas
19	chr10:93841200-93843800	Weak transcription	Aorta	Aorta
20	chr10:93841200-93844200	Weak transcription	Fetal Brain Female	brain
21	chr10:93841200-93845000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:93841200-93846800	Weak transcription	Lung	lung
23	chr10:93841200-93847200	Weak transcription	GM12878-XiMat	blood
24	chr10:93841200-93847400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:93841200-93847400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:93841200-93847400	Weak transcription	Fetal Intestine Small	intestine
27	chr10:93841200-93847400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:93841200-93847600	Weak transcription	Fetal Intestine Large	intestine
29	chr10:93841200-93853800	Weak transcription	Pancreas	Pancrea
30	chr10:93841200-93872400	Weak transcription	Spleen	Spleen
31	chr10:93841200-93881600	Weak transcription	Esophagus	oesophagus
32	chr10:93841400-93843000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:93841400-93843000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:93841400-93843000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr10:93841400-93843000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr10:93841400-93843000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:93841400-93843000	Weak transcription	Brain Substantia Nigra	brain
38	chr10:93841400-93843200	Weak transcription	Fetal Stomach	stomach
39	chr10:93841400-93843400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:93841400-93843400	Weak transcription	Brain Germinal Matrix	brain
41	chr10:93841400-93844200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:93841400-93847400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:93841400-93847600	Weak transcription	Adipose Nuclei	Adipose
44	chr10:93841400-93847800	Weak transcription	Primary B cells from cord blood	blood
45	chr10:93841600-93847600	Weak transcription	Brain Anterior Caudate	brain
46	chr10:93842000-93843800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr10:93842200-93843200	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr10:93842200-93843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:93842400-93843000	Enhancers	Stomach Smooth Muscle	stomach
50	chr10:93842400-93843200	Enhancers	Colon Smooth Muscle	Colon

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