Variant report

Variant	rs6534664
Chromosome Location	chr4:129034464-129034465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129029150..129031424-chr4:129033425..129035573,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10001048	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1001503	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10019554	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10019840	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10518529	0.80[EUR][1000 genomes]
rs1064205	0.89[EUR][1000 genomes]
rs10857127	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10857128	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10857129	0.87[EUR][1000 genomes]
rs11098946	0.85[EUR][1000 genomes]
rs11098947	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098950	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11723915	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11727049	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11728245	0.80[EUR][1000 genomes]
rs11732074	0.80[EUR][1000 genomes]
rs11737508	0.87[EUR][1000 genomes]
rs12505717	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12506549	0.89[EUR][1000 genomes]
rs12507742	0.89[EUR][1000 genomes]
rs12508837	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12509092	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12641548	0.87[EUR][1000 genomes]
rs12645291	0.83[EUR][1000 genomes]
rs12648962	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12649864	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13102049	0.89[EUR][1000 genomes]
rs13136665	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13139182	0.80[EUR][1000 genomes]
rs13139685	0.87[EUR][1000 genomes]
rs1545711	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16997980	0.87[EUR][1000 genomes]
rs16997982	0.84[EUR][1000 genomes]
rs1870686	0.89[EUR][1000 genomes]
rs1908450	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1908451	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1961274	0.84[EUR][1000 genomes]
rs1975878	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1975879	0.87[EUR][1000 genomes]
rs1993722	0.85[EUR][1000 genomes]
rs1993723	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2056470	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2061570	0.80[EUR][1000 genomes]
rs2061571	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2061572	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2085843	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2100798	0.84[EUR][1000 genomes]
rs2100799	0.87[EUR][1000 genomes]
rs2126112	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306054	0.89[EUR][1000 genomes]
rs2306055	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2391231	0.83[EUR][1000 genomes]
rs34350456	0.87[EUR][1000 genomes]
rs34475529	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34658734	0.80[EUR][1000 genomes]
rs34659062	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34800130	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34823354	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34834481	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35619904	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35636574	0.89[EUR][1000 genomes]
rs3733320	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4493552	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4527494	0.88[EUR][1000 genomes]
rs4576015	0.86[EUR][1000 genomes]
rs4833394	0.87[EUR][1000 genomes]
rs4833395	0.89[EUR][1000 genomes]
rs4834223	0.84[ASN][1000 genomes]
rs4834225	0.85[ASN][1000 genomes]
rs4834226	0.87[EUR][1000 genomes]
rs4834228	0.87[EUR][1000 genomes]
rs4834229	0.87[EUR][1000 genomes]
rs4834230	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4834231	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4834233	0.89[EUR][1000 genomes]
rs4834234	0.85[EUR][1000 genomes]
rs57137613	0.89[EUR][1000 genomes]
rs59944017	0.83[EUR][1000 genomes]
rs62335637	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62335638	0.87[EUR][1000 genomes]
rs62335645	0.85[EUR][1000 genomes]
rs6534659	0.85[EUR][1000 genomes]
rs6534660	0.87[EUR][1000 genomes]
rs6534661	0.87[EUR][1000 genomes]
rs6534662	0.89[EUR][1000 genomes]
rs6534663	0.83[EUR][1000 genomes]
rs6534665	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6534666	0.88[EUR][1000 genomes]
rs6534672	0.81[ASN][1000 genomes]
rs6534673	0.81[ASN][1000 genomes]
rs6811718	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6815163	0.85[EUR][1000 genomes]
rs6815890	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6820515	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6820831	0.84[EUR][1000 genomes]
rs6827422	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6834263	0.84[EUR][1000 genomes]
rs6839370	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6842281	0.83[EUR][1000 genomes]
rs6848998	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6851796	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6851896	0.81[EUR][1000 genomes]
rs7661888	0.86[EUR][1000 genomes]
rs7671131	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7671235	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7671641	0.89[EUR][1000 genomes]
rs7684955	0.89[EUR][1000 genomes]
rs7686130	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7691540	0.81[EUR][1000 genomes]
rs7691566	0.89[EUR][1000 genomes]
rs7692797	0.85[EUR][1000 genomes]
rs7696130	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv967794	chr4:129033277-129035591	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
2	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
3	chr4:128984200-129035200	Weak transcription	NHLF	lung
4	chr4:128992800-129038400	Weak transcription	Thymus	Thymus
5	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:128995600-129035800	Weak transcription	Hela-S3	cervix
7	chr4:128997000-129036800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:128997000-129054200	Weak transcription	Right Ventricle	heart
9	chr4:128997400-129037400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:129000200-129066600	Weak transcription	Colonic Mucosa	Colon
11	chr4:129003600-129078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:129003800-129035200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:129003800-129047800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:129003800-129056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:129003800-129066400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:129007800-129076400	Weak transcription	Gastric	stomach
17	chr4:129014400-129051400	Weak transcription	Fetal Kidney	kidney
18	chr4:129014400-129066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:129016600-129048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:129018800-129083400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:129019600-129045600	Weak transcription	HSMMtube	muscle
22	chr4:129020200-129051600	Weak transcription	Psoas Muscle	Psoas
23	chr4:129020400-129076600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:129020400-129076600	Weak transcription	Pancreas	Pancrea
25	chr4:129020600-129045200	Weak transcription	Fetal Thymus	thymus
26	chr4:129020800-129066600	Weak transcription	Primary T cells from cord blood	blood
27	chr4:129021000-129043800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:129021400-129076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:129021600-129044000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:129021600-129046800	Weak transcription	Fetal Brain Female	brain
31	chr4:129021800-129038600	Weak transcription	Lung	lung
32	chr4:129021800-129051600	Weak transcription	NHEK	skin
33	chr4:129022400-129066400	Weak transcription	Left Ventricle	heart
34	chr4:129023200-129062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:129024000-129035200	Weak transcription	NHDF-Ad	bronchial
36	chr4:129024800-129066600	Weak transcription	HSMM	muscle
37	chr4:129025800-129056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:129025800-129066600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:129026000-129062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:129026000-129066400	Weak transcription	Aorta	Aorta
41	chr4:129026600-129045200	Weak transcription	Fetal Intestine Large	intestine
42	chr4:129026600-129055400	Weak transcription	NH-A	brain
43	chr4:129026600-129066400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:129026600-129066600	Weak transcription	Fetal Lung	lung
45	chr4:129026800-129043600	Weak transcription	Ovary	ovary
46	chr4:129029400-129066200	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:129029600-129042000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:129029600-129047800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:129029800-129043000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:129029800-129043400	Weak transcription	GM12878-XiMat	blood

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