Variant report

Variant	rs6474961
Chromosome Location	chr9:15743227-15743228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10119980	0.84[AMR][1000 genomes]
rs10217374	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1039812	0.85[EUR][1000 genomes]
rs1039815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1039816	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10732334	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10733296	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10738407	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10756706	0.91[EUR][1000 genomes]
rs10810445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10810447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12350267	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1355172	0.85[EUR][1000 genomes]
rs1417974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1417975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891208	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1935225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1964706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1970496	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2055773	0.85[EUR][1000 genomes]
rs2055774	0.85[EUR][1000 genomes]
rs2089618	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2136354	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2136357	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2175083	0.85[EUR][1000 genomes]
rs2185664	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2382533	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2382535	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4146292	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4740623	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4741533	0.84[AMR][1000 genomes]
rs4741536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4741537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4741540	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6474949	0.85[EUR][1000 genomes]
rs6474956	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6474957	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6474973	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7025247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035422	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7038920	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7847148	0.82[EUR][1000 genomes]
rs7849159	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7854094	0.87[EUR][1000 genomes]
rs7865193	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7865391	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7866413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874094	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs958870	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9919009	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2752286	chr9:15578017-15794897	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv892632	chr9:15590116-15869845	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv892633	chr9:15604746-15889411	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv892634	chr9:15696501-15746168	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv892635	chr9:15731775-15876507	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6474961	CCDC171	cis	Esophagus Mucosa	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15679800-15746800	Weak transcription	Ovary	ovary
2	chr9:15687600-15746600	Weak transcription	Aorta	Aorta
3	chr9:15715200-15746200	Weak transcription	Left Ventricle	heart
4	chr9:15718000-15749600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:15718600-15746600	Weak transcription	Thymus	Thymus
6	chr9:15729000-15746800	Weak transcription	Fetal Thymus	thymus
7	chr9:15737000-15754000	Weak transcription	Gastric	stomach
8	chr9:15738200-15746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:15739200-15746800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:15741200-15746600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:15741400-15744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:15741400-15746200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:15741800-15744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:15742400-15744000	Enhancers	Fetal Brain Male	brain
15	chr9:15742600-15746600	Weak transcription	Pancreas	Pancrea
16	chr9:15742600-15746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:15742600-15769600	Weak transcription	Psoas Muscle	Psoas

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