Variant report

Variant	rs959822
Chromosome Location	chr4:128866055-128866056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128861086..128863821-chr4:128864008..128867512,4	K562	blood:
2	chr4:128860061..128863173-chr4:128863739..128867512,5	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1001503	0.87[CEU][hapmap]
rs10493147	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs10518529	0.95[CEU][hapmap]
rs1064205	0.82[ASW][hapmap];0.95[CEU][hapmap];0.84[LWK][hapmap];0.92[YRI][hapmap]
rs10857126	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs10857128	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs10857129	0.95[CEU][hapmap]
rs11098936	0.87[CEU][hapmap]
rs11098940	0.86[CEU][hapmap]
rs11098947	0.87[CEU][hapmap]
rs11098950	0.91[CEU][hapmap]
rs11723915	0.87[CEU][hapmap]
rs11725843	0.86[EUR][1000 genomes]
rs11735635	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12503257	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12504266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12504825	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505717	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs12506549	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs12509092	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs12510785	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12641548	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs12645636	0.91[CEU][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs13102049	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs13127610	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs13135183	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13135526	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13138581	0.95[CEU][hapmap]
rs13139182	0.95[CEU][hapmap]
rs1380154	0.91[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs1380156	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap]
rs1459048	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs1459050	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs1545711	0.82[CEU][hapmap]
rs1585312	0.87[CEU][hapmap]
rs16997980	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs17012739	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1870422	0.87[CEU][hapmap];0.81[GIH][hapmap]
rs1870686	0.95[CEU][hapmap]
rs1870687	0.95[CEU][hapmap]
rs1975878	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs1975879	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs1993722	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs2061570	0.95[CEU][hapmap]
rs2061571	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs2061572	0.81[CEU][hapmap]
rs2087446	0.88[EUR][1000 genomes]
rs2126112	0.87[CEU][hapmap]
rs2305957	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2305958	0.87[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap]
rs2306054	0.82[ASW][hapmap];0.95[CEU][hapmap];0.86[LWK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap]
rs2306055	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs2391231	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs3214038	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs34625382	0.86[EUR][1000 genomes]
rs3733320	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs3811740	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3811741	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3816588	0.90[CEU][hapmap]
rs4833391	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs4833393	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4833395	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs4834217	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap]
rs4834223	0.91[CEU][hapmap]
rs4834224	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4834225	0.91[CEU][hapmap];0.94[TSI][hapmap]
rs4834226	0.82[ASW][hapmap];0.95[CEU][hapmap];0.86[LWK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap]
rs4834229	0.95[CEU][hapmap]
rs4834231	0.87[CEU][hapmap]
rs4834234	0.95[CEU][hapmap]
rs6534647	0.86[EUR][1000 genomes]
rs6534648	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6534655	0.87[EUR][1000 genomes]
rs6534656	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6534658	0.85[EUR][1000 genomes]
rs6534659	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs6815890	0.95[CEU][hapmap]
rs6839292	0.87[CEU][hapmap]
rs6839370	0.95[CEU][hapmap]
rs6846535	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6851796	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs7441217	0.88[ASN][1000 genomes]
rs748630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7661888	0.82[ASW][hapmap];0.95[CEU][hapmap];0.86[LWK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap]
rs7671131	0.82[CEU][hapmap]
rs7671590	0.87[CEU][hapmap]
rs7684368	0.87[CEU][hapmap]
rs7686130	0.87[CEU][hapmap]
rs7692740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9968459	0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap]
rs9995738	0.87[CEU][hapmap];0.91[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	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
5	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	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
15	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
16	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	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
19	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128831200-128884600	Weak transcription	Spleen	Spleen
2	chr4:128832600-128885200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:128833600-128867600	Weak transcription	NHLF	lung
4	chr4:128835000-128885200	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:128836800-128884600	Weak transcription	Esophagus	oesophagus
6	chr4:128836800-128885200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:128837000-128868600	Weak transcription	Pancreas	Pancrea
8	chr4:128837000-128885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:128837400-128885800	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:128837800-128885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:128838400-128885200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:128838400-128885800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:128838800-128885200	Weak transcription	Right Ventricle	heart
14	chr4:128840000-128885800	Weak transcription	Aorta	Aorta
15	chr4:128840600-128885200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:128840800-128885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:128841600-128885200	Weak transcription	Hela-S3	cervix
18	chr4:128841800-128885200	Weak transcription	Gastric	stomach
19	chr4:128842400-128881200	Weak transcription	Colonic Mucosa	Colon
20	chr4:128842600-128879200	Weak transcription	K562	blood
21	chr4:128842800-128885400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:128842800-128885600	Weak transcription	Psoas Muscle	Psoas
23	chr4:128843000-128875800	Weak transcription	HSMM	muscle
24	chr4:128843000-128885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:128843000-128885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:128843000-128885200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:128843000-128885800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:128843000-128885800	Weak transcription	Brain Substantia Nigra	brain
29	chr4:128847600-128885800	Weak transcription	Lung	lung
30	chr4:128847800-128885200	Weak transcription	Fetal Lung	lung
31	chr4:128849200-128868600	Weak transcription	Ovary	ovary
32	chr4:128850800-128885000	Weak transcription	Brain Germinal Matrix	brain
33	chr4:128851400-128885200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:128853400-128883400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:128855000-128883200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:128855200-128879200	Weak transcription	Fetal Heart	heart
37	chr4:128856200-128877200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:128856600-128885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:128856600-128885800	Weak transcription	Left Ventricle	heart
40	chr4:128858400-128872000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:128858800-128873800	Weak transcription	NHEK	skin
42	chr4:128858800-128875600	Weak transcription	NH-A	brain
43	chr4:128858800-128885800	Weak transcription	NHDF-Ad	bronchial
44	chr4:128859000-128869600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:128859800-128867400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:128859800-128884600	Weak transcription	Fetal Brain Male	brain
47	chr4:128860400-128866200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr4:128860400-128866400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:128860400-128867400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:128860400-128867400	Strong transcription	Primary monocytes fromperipheralblood	blood

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