Variant report

Variant	rs596056
Chromosome Location	chr11:86203201-86203202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86195419..86198314-chr11:86202318..86204209,2	K562	blood:
2	chr11:86197644..86200072-chr11:86202329..86204478,2	MCF-7	breast:
3	chr11:86199685..86201695-chr11:86203198..86206552,3	K562	blood:
4	chr11:86201721..86204217-chr11:86205019..86207965,2	K562	blood:
5	chr11:86201572..86204435-chr11:86205417..86209794,3	MCF-7	breast:
6	chr11:86179345..86181640-chr11:86202396..86204144,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10431169	0.81[CHB][hapmap]
rs10501620	0.86[CHB][hapmap]
rs10501621	0.83[CHB][hapmap]
rs10898480	0.82[CHB][hapmap]
rs147045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1841066	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2279046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2446226	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2446228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2446229	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2446231	0.90[ASN][1000 genomes]
rs2511090	0.88[ASN][1000 genomes]
rs3781812	0.86[CHB][hapmap]
rs498981	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs501362	0.85[ASN][1000 genomes]
rs502749	0.87[ASN][1000 genomes]
rs503583	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs509870	0.83[ASN][1000 genomes]
rs511884	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs525764	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs531908	0.85[ASN][1000 genomes]
rs535652	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs553351	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs582976	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs585527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs588287	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs589174	0.95[CHB][hapmap]
rs589368	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs590401	0.95[CHB][hapmap]
rs593853	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs594106	0.82[ASN][1000 genomes]
rs597296	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs597793	0.86[ASN][1000 genomes]
rs598187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs601300	0.81[CHB][hapmap]
rs601824	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs603890	0.86[ASN][1000 genomes]
rs605251	0.95[CHB][hapmap]
rs605618	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs606546	0.93[ASN][1000 genomes]
rs609848	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs610842	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs612163	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs613412	0.90[ASN][1000 genomes]
rs616018	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs618513	0.95[CHB][hapmap]
rs61904415	0.83[ASN][1000 genomes]
rs619195	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs619472	0.84[ASN][1000 genomes]
rs623478	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs624236	0.90[ASN][1000 genomes]
rs624843	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624870	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs625925	0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs628406	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs628449	0.85[ASN][1000 genomes]
rs630438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs632538	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs634509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs635934	0.88[ASN][1000 genomes]
rs636485	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs638041	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs640310	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs642278	0.83[ASN][1000 genomes]
rs643950	0.84[ASN][1000 genomes]
rs644086	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs646691	0.88[ASN][1000 genomes]
rs646798	0.86[ASN][1000 genomes]
rs648798	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs651089	0.95[CHB][hapmap]
rs653779	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs655868	0.82[ASN][1000 genomes]
rs655934	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs658166	0.90[ASN][1000 genomes]
rs659405	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs661083	0.86[ASN][1000 genomes]
rs661972	0.86[ASN][1000 genomes]
rs662361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs663262	0.95[CHB][hapmap]
rs668270	0.86[ASN][1000 genomes]
rs668272	0.95[CHB][hapmap]
rs670602	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674250	0.86[ASN][1000 genomes]
rs677700	0.95[CHB][hapmap]
rs679076	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs679382	0.88[ASN][1000 genomes]
rs680846	0.82[ASN][1000 genomes]
rs681158	0.86[ASN][1000 genomes]
rs687804	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs689039	0.85[ASN][1000 genomes]
rs694952	0.88[ASN][1000 genomes]
rs7130920	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
3	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:86181800-86208800	Weak transcription	Gastric	stomach
6	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
14	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:86195600-86203600	Weak transcription	Aorta	Aorta
16	chr11:86195800-86206400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:86196600-86203600	Weak transcription	Ovary	ovary
22	chr11:86196600-86208200	Weak transcription	Osteobl	bone
23	chr11:86196800-86208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:86197000-86208000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:86198000-86203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:86198200-86208200	Weak transcription	Fetal Stomach	stomach
29	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:86198400-86206600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:86198600-86208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
33	chr11:86198800-86203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:86198800-86204200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:86198800-86205400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:86199000-86204000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:86199000-86208400	Weak transcription	A549	lung
38	chr11:86199800-86203400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:86199800-86208200	Weak transcription	Lung	lung
40	chr11:86200000-86206600	Weak transcription	Adipose Nuclei	Adipose
41	chr11:86200800-86204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:86201000-86206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:86201200-86208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:86201400-86204200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:86202000-86204400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:86202000-86206400	Weak transcription	NH-A	brain
48	chr11:86202200-86204600	Enhancers	Right Atrium	heart
49	chr11:86202400-86208400	Weak transcription	Fetal Brain Female	brain
50	chr11:86202400-86208400	Weak transcription	HUVEC	blood vessel

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