Variant report

Variant	rs1025032
Chromosome Location	chr5:61552812-61552813
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61549033..61550848-chr5:61552778..61554762,2	K562	blood:
2	chr5:61551611..61555704-chr5:61555776..61558862,4	K562	blood:
3	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10079409	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10471542	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1054897	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs10939936	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10939938	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11738794	0.87[CHD][hapmap]
rs12153750	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12519766	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12658256	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16890656	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1808400	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1848504	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2063256	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2272290	0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.83[ASN][1000 genomes]
rs2463078	0.82[CEU][hapmap];0.84[ASN][1000 genomes]
rs264522	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs264525	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs264526	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs264529	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28720674	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs37032	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs3842912	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846468	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3857259	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3892140	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4700491	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4700493	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs6863617	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6864450	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6872078	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884054	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73104056	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73104058	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7729719	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7734679	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9291759	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9981	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv11317	chr5:61501951-61555756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv821303	chr5:61501951-61555756	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1826874	chr5:61512183-61552823	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61549800-61553800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:61551800-61553000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr5:61552000-61553000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr5:61552000-61553000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:61552000-61553000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:61552000-61553000	Enhancers	Fetal Kidney	kidney
7	chr5:61552000-61553000	Enhancers	Fetal Muscle Leg	muscle
8	chr5:61552000-61553200	Enhancers	Brain Germinal Matrix	brain
9	chr5:61552000-61553200	Enhancers	HUVEC	blood vessel
10	chr5:61552000-61553200	Enhancers	K562	blood
11	chr5:61552000-61553600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:61552200-61553000	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:61552200-61553000	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:61552200-61553000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:61552200-61553000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:61552200-61553000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:61552200-61553000	Enhancers	NHEK	skin
18	chr5:61552400-61553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:61552400-61553000	Flanking Active TSS	Dnd41	blood
20	chr5:61552400-61553000	Flanking Active TSS	GM12878-XiMat	blood
21	chr5:61552400-61555600	Weak transcription	Pancreas	Pancrea
22	chr5:61552600-61553000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:61552600-61553000	Enhancers	Brain Angular Gyrus	brain
24	chr5:61552600-61553200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:61552800-61553000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:61552800-61553000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:61552800-61553000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:61552800-61553000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:61552800-61553200	Enhancers	Primary B cells from cord blood	blood
30	chr5:61552800-61553200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:61552800-61553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:61552800-61554000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:61552800-61554200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:61552800-61555000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:61552800-61555600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:61552800-61555600	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:61552800-61555600	Weak transcription	Fetal Lung	lung
38	chr5:61552800-61555800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:61552800-61556200	Weak transcription	Adipose Nuclei	Adipose
40	chr5:61552800-61556400	Weak transcription	Fetal Thymus	thymus
41	chr5:61552800-61556600	Weak transcription	Thymus	Thymus
42	chr5:61552800-61557400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:61552800-61557800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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