Variant report

Variant	rs4961653
Chromosome Location	chr9:18494532-18494533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1006022	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10217409	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10217753	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10810974	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs1281350	0.96[CEU][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs1329720	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs1341063	0.86[CHB][hapmap];0.85[YRI][hapmap]
rs1417037	0.86[CHB][hapmap]
rs1538999	0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16936745	0.86[CHB][hapmap]
rs16936779	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1832638	0.88[ASN][1000 genomes]
rs1832747	0.88[CEU][hapmap];0.81[LWK][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs1888067	0.82[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1888068	0.81[CHB][hapmap]
rs1888069	0.81[CHB][hapmap]
rs2149875	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2277160	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs34619899	0.87[ASN][1000 genomes]
rs4961649	0.81[EUR][1000 genomes]
rs4961650	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4961654	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6475220	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs7036515	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7864622	0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs7864727	0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs7864856	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7867766	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv892689	chr9:18485434-18537444	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv892690	chr9:18485434-18592374	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4961653	KIAA1797	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18487400-18495600	Enhancers	Fetal Heart	heart
2	chr9:18490400-18509400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18491200-18494800	Weak transcription	Hela-S3	cervix
4	chr9:18491200-18495000	Enhancers	HSMMtube	muscle
5	chr9:18491200-18495200	Enhancers	NHDF-Ad	bronchial
6	chr9:18491200-18495400	Enhancers	NHEK	skin
7	chr9:18491200-18498400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:18491400-18494600	Enhancers	HUVEC	blood vessel
9	chr9:18491400-18495600	Enhancers	HMEC	breast
10	chr9:18491400-18495600	Enhancers	NHLF	lung
11	chr9:18491400-18497000	Enhancers	NH-A	brain
12	chr9:18492000-18497600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:18492200-18495400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:18492600-18496800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:18492800-18494600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:18492800-18494600	Enhancers	Fetal Brain Male	brain
17	chr9:18492800-18498000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:18493200-18495400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:18493800-18496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:18493800-18497000	Weak transcription	Fetal Lung	lung
21	chr9:18493800-18498600	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:18493800-18502400	Weak transcription	Ovary	ovary
23	chr9:18494000-18496400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:18494000-18497000	Weak transcription	Fetal Stomach	stomach
25	chr9:18494000-18501000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:18494200-18494600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:18494200-18495200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:18494200-18495200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:18494200-18496400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:18494400-18495400	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr9:18494400-18496800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:18494400-18497000	Genic enhancers	HSMM	muscle
33	chr9:18494400-18500400	Genic enhancers	Osteobl	bone

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