Variant report

Variant	rs12909626
Chromosome Location	chr15:73263405-73263406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73261869..73264413-chr15:73266352..73269682,3	MCF-7	breast:
2	chr15:73073604..73076193-chr15:73263164..73264719,2	K562	blood:
3	chr15:73262265..73265047-chr15:73342979..73345241,3	MCF-7	breast:
4	chr15:73258951..73261600-chr15:73262517..73265524,3	MCF-7	breast:
5	chr15:73262584..73265850-chr15:73343191..73346081,4	MCF-7	breast:
6	chr15:73234817..73236569-chr15:73261756..73264144,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260898	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000067141	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11072397	0.86[AMR][1000 genomes]
rs11632079	0.87[CEU][hapmap]
rs12902056	0.87[CEU][hapmap]
rs12903656	1.00[ASN][1000 genomes]
rs12908090	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908199	0.87[CEU][hapmap]
rs12913381	1.00[ASN][1000 genomes]
rs12913589	0.85[EUR][1000 genomes]
rs12914663	0.87[CEU][hapmap]
rs12917161	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16957509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2415214	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28451375	0.86[AMR][1000 genomes]
rs34691393	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34770199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34846029	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35206920	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35686353	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988290	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36019616	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36048782	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4636887	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495032	0.84[AMR][1000 genomes]
rs71397271	0.86[AMR][1000 genomes]
rs7176144	1.00[ASN][1000 genomes]
rs7179577	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739406	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739407	0.86[AMR][1000 genomes]
rs8037213	0.87[CEU][hapmap]
rs8039439	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs8039533	0.87[CEU][hapmap]
rs8039640	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521475	chr15:73250485-73263405	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12909626	ARIH1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73258000-73264400	Enhancers	Fetal Brain Male	brain
2	chr15:73260400-73263600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:73260400-73263800	Weak transcription	Colonic Mucosa	Colon
4	chr15:73261400-73263600	Weak transcription	Fetal Heart	heart
5	chr15:73261400-73263600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:73262200-73265000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:73262400-73263800	Enhancers	Fetal Brain Female	brain
8	chr15:73262800-73263800	Enhancers	Brain Cingulate Gyrus	brain
9	chr15:73262800-73263800	Enhancers	Fetal Lung	lung
10	chr15:73262800-73265000	Enhancers	Fetal Stomach	stomach
11	chr15:73263000-73263600	Enhancers	Colon Smooth Muscle	Colon
12	chr15:73263000-73263800	Enhancers	Fetal Kidney	kidney
13	chr15:73263000-73263800	Enhancers	Psoas Muscle	Psoas
14	chr15:73263000-73264600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:73263000-73265000	Enhancers	Fetal Muscle Leg	muscle
16	chr15:73263200-73263600	Enhancers	Ovary	ovary
17	chr15:73263200-73263800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:73263200-73263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:73263200-73263800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:73263200-73263800	Enhancers	Brain Angular Gyrus	brain
21	chr15:73263200-73263800	Enhancers	Brain Anterior Caudate	brain
22	chr15:73263200-73264000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:73263200-73264000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:73263200-73264000	Enhancers	Fetal Thymus	thymus
25	chr15:73263200-73264200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:73263200-73264200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:73263200-73264800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:73263200-73264800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:73263400-73263600	Enhancers	Adipose Nuclei	Adipose
30	chr15:73263400-73263600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr15:73263400-73263600	Enhancers	Left Ventricle	heart
32	chr15:73263400-73263600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr15:73263400-73263600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr15:73263400-73263600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr15:73263400-73263600	Enhancers	Spleen	Spleen
36	chr15:73263400-73263600	Bivalent Enhancer	Hela-S3	cervix
37	chr15:73263400-73263800	Enhancers	Brain Hippocampus Middle	brain
38	chr15:73263400-73263800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr15:73263400-73263800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:73263400-73263800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:73263400-73263800	Enhancers	Right Atrium	heart
42	chr15:73263400-73264000	Enhancers	Fetal Intestine Large	intestine
43	chr15:73263400-73264400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr15:73263400-73264400	Flanking Active TSS	NHLF	lung
45	chr15:73263400-73264600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:73263400-73264600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:73263400-73264600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:73263400-73264600	Enhancers	Fetal Intestine Small	intestine
49	chr15:73263400-73264600	Flanking Active TSS	Osteobl	bone
50	chr15:73263400-73264800	Enhancers	Cortex derived primary cultured neurospheres	brain

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