Variant report

Variant	rs6434006
Chromosome Location	chr2:184024702-184024703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184019137..184020799-chr2:184022946..184025022,2	K562	blood:
2	chr2:184022891..184025672-chr2:184035459..184037994,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10166767	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931063	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931066	0.94[EUR][1000 genomes]
rs11684034	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11893450	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316842	0.82[AFR][1000 genomes]
rs1462535	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462536	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824143	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882441	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882443	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176231	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248705	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2251775	1.00[CHD][hapmap]
rs2254867	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254877	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675044	0.88[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675081	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675085	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675096	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675097	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675099	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675100	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705722	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705723	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705724	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705725	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705726	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705759	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705761	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705762	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2887233	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2952359	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34446915	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4441423	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474850	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521002	0.82[EUR][1000 genomes]
rs4666613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666615	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666616	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666617	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666618	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666619	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666895	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57951311	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281223	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58953222	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59640908	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60745950	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60932045	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434012	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434014	0.96[EUR][1000 genomes]
rs6434018	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434020	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66717549	0.92[AFR][1000 genomes]
rs6735968	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6737988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751275	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896587	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896589	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896592	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896594	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72898506	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72898520	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72898521	0.82[AFR][1000 genomes]
rs72898559	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7355427	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7420841	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585172	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585433	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7588899	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	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
rs6434006	CCDC141	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
4	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
5	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
7	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
12	chr2:183991400-184034000	Weak transcription	NHLF	lung
13	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
14	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
16	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:184005000-184025200	Weak transcription	Left Ventricle	heart
20	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:184009200-184025000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:184009200-184025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:184009200-184025600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:184009200-184025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:184009200-184028400	Weak transcription	Brain Anterior Caudate	brain
27	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
28	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
29	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:184013800-184025800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:184014200-184031400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:184014400-184025200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:184014600-184030800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:184015000-184028800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:184015000-184029000	Weak transcription	HSMMtube	muscle
37	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
38	chr2:184015200-184028000	Weak transcription	Fetal Heart	heart
39	chr2:184015400-184027400	Weak transcription	Osteobl	bone
40	chr2:184016000-184030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:184016200-184030800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:184016600-184028200	Weak transcription	HUVEC	blood vessel
43	chr2:184016600-184028800	Weak transcription	Spleen	Spleen
44	chr2:184016800-184026600	Weak transcription	NHEK	skin
45	chr2:184017000-184024800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:184017800-184027000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
48	chr2:184018600-184026600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:184019000-184024800	Weak transcription	Ovary	ovary
50	chr2:184019000-184025000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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