Variant report

Variant	rs2509608
Chromosome Location	chr11:85779297-85779298
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85372288..85375071-chr11:85778441..85780061,2	MCF-7	breast:
2	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
3	chr11:85777613..85779619-chr11:85854927..85856671,2	K562	blood:
4	chr11:85778609..85781292-chr11:85954393..85956232,2	K562	blood:
5	chr11:85778910..85781849-chr11:85954546..85957728,3	K562	blood:
6	chr11:85778125..85779781-chr11:85819659..85821681,2	K562	blood:
7	chr11:85776467..85780584-chr11:85902948..85906650,5	MCF-7	breast:
8	chr11:85779286..85779918-chr3:47422174..47422744,2	Hela-S3	cervix:
9	chr11:85520681..85523600-chr11:85778386..85780657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000260236	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000254502	Chromatin interaction
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10751134	1.00[YRI][hapmap]
rs10792832	1.00[YRI][hapmap]
rs11234493	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1237230	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1513390	0.94[ASN][1000 genomes]
rs1996108	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2077815	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2155051	0.84[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2458493	0.94[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2458496	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2458499	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2458500	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508688	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2508696	0.83[YRI][hapmap]
rs2509609	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3016327	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3851179	0.82[YRI][hapmap]
rs472618	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs488134	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs489486	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493254	1.00[YRI][hapmap]
rs494369	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs497711	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs504129	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs527162	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs528109	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs536841	1.00[YRI][hapmap]
rs540422	0.90[CHB][hapmap]
rs542167	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs544458	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544848	0.88[ASN][1000 genomes]
rs547767	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs548121	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs556562	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs583126	0.89[ASN][1000 genomes]
rs585820	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs588076	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs588380	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs592297	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs592314	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs595972	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs597446	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs600258	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs600743	0.94[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs601185	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs602222	0.81[CHB][hapmap]
rs603615	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs616555	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs617836	0.80[ASN][1000 genomes]
rs618001	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs618629	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs618679	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs622220	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs626542	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs627818	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs634719	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs635168	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637304	0.87[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs645299	0.83[CHB][hapmap]
rs648270	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs654194	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs655641	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs659801	0.87[EUR][1000 genomes]
rs669556	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs669813	1.00[YRI][hapmap]
rs670606	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs677909	1.00[YRI][hapmap]
rs680119	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs682366	0.94[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs682928	1.00[YRI][hapmap]
rs694011	0.83[YRI][hapmap]
rs75751	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7938033	0.80[CHB][hapmap]
rs7941541	1.00[YRI][hapmap]
rs7951988	0.81[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9804630	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85773600-85781000	Active TSS	Right Ventricle	heart
2	chr11:85773800-85780600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:85773800-85780600	Active TSS	GM12878-XiMat	blood
4	chr11:85775000-85780600	Active TSS	Stomach Smooth Muscle	stomach
5	chr11:85775600-85780800	Active TSS	Ovary	ovary
6	chr11:85775600-85781000	Active TSS	Hela-S3	cervix
7	chr11:85775800-85780600	Active TSS	HSMMtube	muscle
8	chr11:85776000-85781200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:85776200-85780600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:85776200-85780600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:85776200-85780800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:85776200-85780800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:85776400-85779800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:85776400-85780600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:85776400-85780600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:85776400-85780600	Active TSS	HMEC	breast
17	chr11:85776400-85780800	Active TSS	Right Atrium	heart
18	chr11:85776400-85781000	Active TSS	HSMM	muscle
19	chr11:85776400-85781000	Active TSS	NHLF	lung
20	chr11:85776400-85781200	Active TSS	Psoas Muscle	Psoas
21	chr11:85776600-85780400	Active TSS	Primary T cells fromperipheralblood	blood
22	chr11:85776600-85780400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:85776600-85780400	Active TSS	Fetal Muscle Leg	muscle
24	chr11:85776600-85780800	Active TSS	Aorta	Aorta
25	chr11:85776600-85781000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:85776800-85780600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:85776800-85780600	Active TSS	Brain Substantia Nigra	brain
28	chr11:85776800-85780600	Active TSS	Thymus	Thymus
29	chr11:85776800-85780600	Active TSS	NHEK	skin
30	chr11:85776800-85780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:85776800-85780800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:85776800-85780800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:85776800-85781000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:85777000-85779400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:85777000-85780400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr11:85777000-85780600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:85777000-85780600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:85777000-85780600	Active TSS	Fetal Intestine Large	intestine
39	chr11:85777000-85780600	Active TSS	Fetal Intestine Small	intestine
40	chr11:85777000-85780600	Active TSS	Placenta	Placenta
41	chr11:85777000-85780600	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr11:85777000-85780600	Active TSS	NH-A	brain
43	chr11:85777000-85780600	Active TSS	NHDF-Ad	bronchial
44	chr11:85777000-85780800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:85777000-85781000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:85777200-85779400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:85777200-85780200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr11:85777200-85780600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:85777200-85780600	Active TSS	Fetal Stomach	stomach
50	chr11:85777200-85780600	Active TSS	Fetal Thymus	thymus

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