Variant report

Variant	rs10459647
Chromosome Location	chr15:73035241-73035242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73024661..73026711-chr15:73032748..73035379,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11072385	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11631214	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11631352	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11637168	0.80[ASN][1000 genomes]
rs12900863	0.82[ASN][1000 genomes]
rs2162269	0.86[ASN][1000 genomes]
rs2277598	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2304597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28582982	0.94[ASN][1000 genomes]
rs34117151	0.82[ASN][1000 genomes]
rs34661924	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3850986	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4776613	0.89[ASN][1000 genomes]
rs4776614	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4777532	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777534	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[ASN][1000 genomes]
rs4777536	0.96[ASN][1000 genomes]
rs4777542	0.89[ASN][1000 genomes]
rs55914134	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62017600	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495015	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7164727	0.82[ASN][1000 genomes]
rs7166595	0.82[ASN][1000 genomes]
rs7167076	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7171728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7176223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7176235	0.95[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7178130	0.83[ASW][hapmap];0.95[CEU][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8024986	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8025333	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8027181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8030477	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8031455	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8033073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033580	0.95[CEU][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8038247	0.82[ASN][1000 genomes]
rs890354	0.80[ASN][1000 genomes]
rs9460	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs998020	0.88[AMR][1000 genomes];0.92[EUR][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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10459647	ARIH1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
2	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
3	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:73021000-73044200	Weak transcription	HUVEC	blood vessel
5	chr15:73021400-73044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:73024400-73046800	Weak transcription	Fetal Kidney	kidney
7	chr15:73024800-73044000	Weak transcription	HMEC	breast
8	chr15:73026600-73035400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:73027400-73035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:73029600-73043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:73030000-73044600	Weak transcription	Brain Substantia Nigra	brain
12	chr15:73030200-73042200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:73030200-73043200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:73030200-73043800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:73030400-73035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:73030400-73043400	Weak transcription	Esophagus	oesophagus
17	chr15:73030400-73043600	Weak transcription	NHLF	lung
18	chr15:73030400-73044000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:73030400-73044000	Weak transcription	HepG2	liver
20	chr15:73030400-73046000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:73031000-73042200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:73031000-73043200	Weak transcription	Colonic Mucosa	Colon
24	chr15:73031000-73043400	Weak transcription	Brain Anterior Caudate	brain
25	chr15:73031000-73043400	Weak transcription	Gastric	stomach
26	chr15:73031000-73043400	Weak transcription	Pancreas	Pancrea
27	chr15:73031000-73043400	Weak transcription	Spleen	Spleen
28	chr15:73031000-73043400	Weak transcription	NHEK	skin
29	chr15:73031000-73044000	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:73031000-73044800	Weak transcription	K562	blood
31	chr15:73031200-73036600	Weak transcription	Fetal Stomach	stomach
32	chr15:73031200-73043400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:73031200-73044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:73031200-73044000	Weak transcription	Fetal Brain Female	brain
35	chr15:73031200-73044200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:73031400-73042200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:73031400-73042200	Weak transcription	Fetal Thymus	thymus
38	chr15:73031400-73043800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:73031400-73044600	Weak transcription	Ovary	ovary
40	chr15:73031600-73044000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:73031600-73044400	Weak transcription	Hela-S3	cervix
42	chr15:73031600-73045000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:73031800-73043400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:73031800-73043400	Weak transcription	Fetal Intestine Small	intestine
45	chr15:73031800-73043800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr15:73031800-73043800	Weak transcription	Right Ventricle	heart
47	chr15:73031800-73044200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:73032200-73042200	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:73032200-73043400	Weak transcription	Lung	lung
50	chr15:73032200-73043800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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