Variant report

Variant	rs4871611
Chromosome Location	chr8:126537570-126537571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126536829..126538764-chr8:126542132..126544383,2	MCF-7	breast:
2	chr8:126440014..126446143-chr8:126536595..126545632,13	MCF-7	breast:
3	chr8:126531237..126534656-chr8:126536046..126538619,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10956252	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1551397	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551398	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551399	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1551400	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809167	0.81[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs28510097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380956	0.80[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.98[TSI][hapmap]
rs55867617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7005585	0.81[CHB][hapmap]
rs7818434	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs921720	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs921721	0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Crohn's disease	21102463	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871611	KIAA0196	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126525800-126538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:126527000-126538200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:126533600-126539000	Weak transcription	Esophagus	oesophagus
4	chr8:126534800-126538400	Weak transcription	Right Atrium	heart
5	chr8:126535400-126543200	Weak transcription	Ovary	ovary
6	chr8:126537000-126538000	Enhancers	A549	lung
7	chr8:126537000-126538200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:126537000-126538200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:126537000-126539200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:126537000-126539200	Enhancers	HSMMtube	muscle
11	chr8:126537000-126539400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:126537000-126541000	Enhancers	Liver	Liver
13	chr8:126537000-126541200	Enhancers	NHDF-Ad	bronchial
14	chr8:126537000-126541200	Enhancers	NHEK	skin
15	chr8:126537000-126541400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:126537000-126541400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:126537000-126541400	Enhancers	HMEC	breast
18	chr8:126537000-126541400	Enhancers	NH-A	brain
19	chr8:126537000-126541400	Enhancers	NHLF	lung
20	chr8:126537000-126541400	Enhancers	Osteobl	bone
21	chr8:126537000-126541600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:126537000-126541600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:126537000-126541800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:126537200-126537600	Flanking Active TSS	Hela-S3	cervix
25	chr8:126537200-126537800	Enhancers	Pancreas	Pancrea
26	chr8:126537200-126539000	Enhancers	HSMM	muscle
27	chr8:126537200-126541200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:126537200-126541200	Enhancers	Adipose Nuclei	Adipose
29	chr8:126537200-126541800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:126537400-126538000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:126537400-126538000	Enhancers	Fetal Lung	lung
32	chr8:126537400-126538400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:126537400-126539000	Weak transcription	Psoas Muscle	Psoas
34	chr8:126537400-126540000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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