Variant report

Variant	rs8024986
Chromosome Location	chr15:73024868-73024869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:73024860-73025010	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:114462920..114463445-chr15:73024416..73025056,2	MCF-7	breast:
2	chr15:73023517..73026830-chr15:73073635..73076108,3	MCF-7	breast:
3	chr15:73024661..73026711-chr15:73032748..73035379,2	K562	blood:
4	chr15:73023950..73025528-chr15:73074914..73077829,2	K562	blood:

Variant related genes	Relation type
BBS4	TF binding region
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10459647	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072385	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631214	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11631352	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12900863	0.81[ASN][1000 genomes]
rs2162269	0.86[ASN][1000 genomes]
rs2277598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304597	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28582982	0.94[ASN][1000 genomes]
rs34117151	0.81[ASN][1000 genomes]
rs34661924	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3850986	0.86[ASN][1000 genomes]
rs4776613	0.88[ASN][1000 genomes]
rs4776614	0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs4777532	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777534	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[ASN][1000 genomes]
rs4777536	0.95[ASN][1000 genomes]
rs4777542	0.88[ASN][1000 genomes]
rs55914134	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62017600	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495015	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7164727	0.81[ASN][1000 genomes]
rs7166595	0.81[ASN][1000 genomes]
rs7167076	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7171728	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7176223	0.94[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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7176235	0.95[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7178130	0.95[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8025333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027181	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8030477	0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs8031455	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8033073	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8033580	0.95[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8038247	0.81[ASN][1000 genomes]
rs9460	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998020	0.87[AMR][1000 genomes];0.93[EUR][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	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	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	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
rs8024986	ARIH1	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
2	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
4	chr15:72993000-73028800	Weak transcription	NHEK	skin
5	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
6	chr15:72999600-73027600	Weak transcription	NHLF	lung
7	chr15:73001200-73027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:73001400-73027400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:73001400-73027400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:73001400-73027600	Weak transcription	Right Ventricle	heart
11	chr15:73001800-73027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:73001800-73027400	Weak transcription	K562	blood
13	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
15	chr15:73002200-73026000	Weak transcription	Fetal Heart	heart
16	chr15:73002200-73028800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:73002400-73028800	Weak transcription	Psoas Muscle	Psoas
18	chr15:73003000-73027400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr15:73003000-73028800	Weak transcription	Dnd41	blood
20	chr15:73003000-73031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:73003200-73027800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:73003200-73029000	Weak transcription	Esophagus	oesophagus
23	chr15:73003400-73029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:73004000-73027400	Weak transcription	Gastric	stomach
26	chr15:73004200-73027200	Weak transcription	Spleen	Spleen
27	chr15:73004400-73028000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:73004600-73027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:73004800-73026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:73005000-73027600	Weak transcription	NHDF-Ad	bronchial
31	chr15:73005000-73028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:73005000-73031800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:73005800-73027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:73006200-73027200	Weak transcription	Brain Germinal Matrix	brain
35	chr15:73006200-73027200	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:73008000-73025400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:73009800-73025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:73010000-73026600	Weak transcription	Osteobl	bone
39	chr15:73010200-73028000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:73011200-73027000	Weak transcription	HSMMtube	muscle
41	chr15:73017200-73025800	Strong transcription	Fetal Stomach	stomach
42	chr15:73017200-73026000	Weak transcription	Fetal Lung	lung
43	chr15:73018800-73032000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:73018800-73033400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:73019000-73032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:73019400-73026600	Weak transcription	Pancreas	Pancrea
47	chr15:73019400-73031600	Strong transcription	Primary T cells from cord blood	blood
48	chr15:73019800-73026200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:73020200-73027400	Weak transcription	Brain Substantia Nigra	brain
50	chr15:73020600-73034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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