Variant report

Variant	rs10080190
Chromosome Location	chr5:75855230-75855231
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	chr5:75854326..75856350-chr5:75859586..75862495,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10041515	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10043064	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10044679	0.83[AMR][1000 genomes]
rs10044688	0.85[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10051729	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10054114	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10064543	0.83[JPT][hapmap]
rs10065424	0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10073592	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10474482	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10942784	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513951	0.83[JPT][hapmap]
rs13355881	0.89[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1501690	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2047731	0.82[EUR][1000 genomes]
rs2134190	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2173926	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2202113	0.84[JPT][hapmap]
rs2202114	0.88[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2840106	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3776768	0.92[CEU][hapmap];0.89[CHB][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3797380	0.82[JPT][hapmap]
rs4235700	0.82[EUR][1000 genomes]
rs4704326	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4704330	0.82[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704332	0.82[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4704333	0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4704336	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6453231	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6453232	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6869692	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6889168	0.82[CEU][hapmap]
rs6889411	0.87[JPT][hapmap]
rs7707801	0.80[EUR][1000 genomes]
rs7713954	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7722711	0.87[JPT][hapmap]
rs905162	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs905163	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs905164	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9293687	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9654416	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9686939	0.83[AMR][1000 genomes];0.89[EUR][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	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:75844200-75855400	Weak transcription	Primary T cells from cord blood	blood
4	chr5:75844400-75860400	Weak transcription	Placenta	Placenta
5	chr5:75844800-75857200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:75844800-75857400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:75845000-75856400	Weak transcription	Liver	Liver
8	chr5:75845000-75858200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:75845400-75876600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:75845600-75857200	Weak transcription	Gastric	stomach
11	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:75848600-75857000	Weak transcription	Stomach Mucosa	stomach
13	chr5:75849800-75857200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:75851600-75861200	Weak transcription	Thymus	Thymus
15	chr5:75851800-75857200	Weak transcription	Esophagus	oesophagus
16	chr5:75851800-75858000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:75851800-75860200	Weak transcription	HepG2	liver
18	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:75852000-75864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:75852400-75855800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:75852600-75857000	Weak transcription	K562	blood
22	chr5:75852800-75857600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:75852800-75858400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:75852800-75860400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:75852800-75877800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:75852800-75877800	Weak transcription	Small Intestine	intestine
27	chr5:75853000-75856200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:75853000-75856600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:75853000-75857200	Weak transcription	Pancreas	Pancrea
30	chr5:75853000-75857400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:75853000-75858400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:75853000-75858400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:75853200-75857600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:75853200-75896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:75853400-75857200	Weak transcription	GM12878-XiMat	blood
36	chr5:75853400-75858000	Weak transcription	Primary B cells from cord blood	blood
37	chr5:75853400-75858600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:75853800-75855800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:75854000-75856000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:75854000-75856000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:75854400-75856200	Strong transcription	Fetal Stomach	stomach
42	chr5:75854600-75863000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:75854800-75858800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:75855200-75855800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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