Variant report

Variant	rs10857127
Chromosome Location	chr4:129020872-129020873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10000960	0.81[ASN][1000 genomes]
rs10002580	0.82[ASN][1000 genomes]
rs10025430	0.82[ASN][1000 genomes]
rs10026123	0.83[ASN][1000 genomes]
rs10026899	0.82[ASN][1000 genomes]
rs10518529	0.82[ASN][1000 genomes]
rs1064205	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10857128	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10857129	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098946	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11098947	0.86[EUR][1000 genomes]
rs11098950	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11727305	0.81[ASN][1000 genomes]
rs11728245	0.82[ASN][1000 genomes]
rs11732074	0.82[ASN][1000 genomes]
rs11735810	0.81[ASN][1000 genomes]
rs11737508	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12505717	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12506549	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12507742	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12508837	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12509092	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12641548	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12645291	0.81[EUR][1000 genomes]
rs12648962	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13102049	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13138581	0.82[ASN][1000 genomes]
rs13139182	0.82[ASN][1000 genomes]
rs13139685	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16997980	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16997982	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1870686	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1870687	0.82[ASN][1000 genomes]
rs1961274	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975878	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1975879	0.85[EUR][1000 genomes]
rs1993722	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1993723	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2061570	0.82[ASN][1000 genomes]
rs2061571	0.84[ASN][1000 genomes]
rs2061572	0.80[EUR][1000 genomes]
rs2085843	0.85[EUR][1000 genomes]
rs2100798	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2100799	0.85[EUR][1000 genomes]
rs2126112	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2306054	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2306055	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2391231	0.84[ASN][1000 genomes]
rs34350456	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34475529	0.84[EUR][1000 genomes]
rs34658734	0.82[ASN][1000 genomes]
rs34659062	0.86[EUR][1000 genomes]
rs34800130	0.84[ASN][1000 genomes]
rs34823354	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34834481	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35619904	0.85[EUR][1000 genomes]
rs35636574	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3733320	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4484314	0.81[ASN][1000 genomes]
rs4527494	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4576015	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833394	0.85[EUR][1000 genomes]
rs4833395	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4834226	0.85[EUR][1000 genomes]
rs4834228	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4834229	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4834230	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4834231	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4834233	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4834234	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57137613	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59944017	0.84[ASN][1000 genomes]
rs62335637	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62335638	0.85[EUR][1000 genomes]
rs62335645	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6534659	0.83[EUR][1000 genomes]
rs6534660	0.85[EUR][1000 genomes]
rs6534661	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6534662	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6534663	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6534664	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6534665	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6534666	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534668	0.82[ASN][1000 genomes]
rs6815163	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6815890	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6818467	0.81[ASN][1000 genomes]
rs6820515	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6820831	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6827422	0.84[EUR][1000 genomes]
rs6834263	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6839370	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842281	0.84[ASN][1000 genomes]
rs6848998	0.86[EUR][1000 genomes]
rs6849546	0.81[ASN][1000 genomes]
rs6851796	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6851896	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7661888	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7669406	0.81[ASN][1000 genomes]
rs7671131	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7671235	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7671641	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7684955	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7686130	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7691540	0.84[ASN][1000 genomes]
rs7691566	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7692797	0.83[EUR][1000 genomes]
rs7696130	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9760910	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
3	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
4	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:128984200-129035200	Weak transcription	NHLF	lung
7	chr4:128991000-129031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:128992800-129029000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:128992800-129038400	Weak transcription	Thymus	Thymus
10	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:128994400-129025200	Weak transcription	Aorta	Aorta
12	chr4:128994800-129031000	Weak transcription	HMEC	breast
13	chr4:128995600-129035800	Weak transcription	Hela-S3	cervix
14	chr4:128997000-129025000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:128997000-129036800	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:128997000-129054200	Weak transcription	Right Ventricle	heart
17	chr4:128997400-129037400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:128997800-129029400	Weak transcription	Spleen	Spleen
19	chr4:128998400-129029000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:128999000-129032000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:128999400-129022600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:129000200-129066600	Weak transcription	Colonic Mucosa	Colon
23	chr4:129002000-129030600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:129003600-129078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:129003800-129023600	Weak transcription	GM12878-XiMat	blood
26	chr4:129003800-129031400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:129003800-129035200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:129003800-129047800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:129003800-129056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:129003800-129066400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:129007200-129023000	Weak transcription	NHDF-Ad	bronchial
32	chr4:129007800-129076400	Weak transcription	Gastric	stomach
33	chr4:129009400-129032400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:129011600-129030200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:129012400-129029400	Weak transcription	Fetal Heart	heart
36	chr4:129012600-129021000	Weak transcription	HUVEC	blood vessel
37	chr4:129013800-129026600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:129014200-129030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:129014400-129021400	Weak transcription	Primary B cells from cord blood	blood
40	chr4:129014400-129022800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:129014400-129030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:129014400-129034200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:129014400-129051400	Weak transcription	Fetal Kidney	kidney
44	chr4:129014400-129066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:129016000-129024600	Strong transcription	Dnd41	blood
46	chr4:129016000-129026600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:129016000-129030800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:129016600-129048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:129017200-129023000	Strong transcription	Fetal Stomach	stomach
50	chr4:129017400-129021400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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