Variant report

Variant	rs11601687
Chromosome Location	chr11:58338628-58338629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58308273..58310053-chr11:58338250..58340152,2	K562	blood:
2	chr11:58337361..58338941-chr11:58344525..58347399,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186660	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10896774	0.87[AMR][1000 genomes]
rs10896775	0.85[AMR][1000 genomes]
rs10896785	0.91[AMR][1000 genomes]
rs10896787	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896788	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896795	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896796	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229423	0.83[AMR][1000 genomes]
rs11229505	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11229512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229543	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229545	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229555	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11530830	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11603890	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11605269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11605297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12269745	0.87[AMR][1000 genomes]
rs12274866	0.87[AMR][1000 genomes]
rs12283414	0.87[AMR][1000 genomes]
rs12285111	0.87[AMR][1000 genomes]
rs12286421	0.87[AMR][1000 genomes]
rs12289198	0.87[AMR][1000 genomes]
rs12290089	0.87[AMR][1000 genomes]
rs12291551	0.87[AMR][1000 genomes]
rs12294062	0.87[AMR][1000 genomes]
rs12786744	0.89[AMR][1000 genomes]
rs12787765	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12797488	0.89[AMR][1000 genomes]
rs12799215	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12800710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12802819	0.87[AMR][1000 genomes]
rs12802960	0.87[AMR][1000 genomes]
rs12803648	0.83[AMR][1000 genomes]
rs12808544	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17474373	0.89[AMR][1000 genomes]
rs17567523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1938598	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1986404	0.89[AMR][1000 genomes]
rs2275993	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276153	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2298608	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3168135	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35279927	0.87[AMR][1000 genomes]
rs4347409	0.87[AMR][1000 genomes]
rs4506677	0.87[AMR][1000 genomes]
rs4517537	0.87[AMR][1000 genomes]
rs4519112	0.80[AMR][1000 genomes]
rs4579945	0.87[AMR][1000 genomes]
rs6591475	0.87[AMR][1000 genomes]
rs7102510	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7102852	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7927966	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7931394	0.87[AMR][1000 genomes]
rs8373	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv528190	chr11:58336620-58347765	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58300000-58340600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:58309600-58338800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:58315600-58340400	Weak transcription	Stomach Mucosa	stomach
4	chr11:58318400-58341000	Weak transcription	Right Ventricle	heart
5	chr11:58318400-58344800	Weak transcription	Fetal Brain Male	brain
6	chr11:58318600-58344400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:58318800-58340600	Weak transcription	NHLF	lung
8	chr11:58318800-58341400	Weak transcription	Psoas Muscle	Psoas
9	chr11:58319200-58343000	Weak transcription	Fetal Brain Female	brain
10	chr11:58320000-58341000	Weak transcription	HSMMtube	muscle
11	chr11:58320200-58340800	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:58321600-58340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:58321800-58340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:58321800-58341200	Weak transcription	Colonic Mucosa	Colon
15	chr11:58321800-58345000	Weak transcription	Ovary	ovary
16	chr11:58322400-58344200	Weak transcription	Fetal Lung	lung
17	chr11:58329400-58341000	Weak transcription	Brain Angular Gyrus	brain
18	chr11:58329400-58342600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:58329400-58344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:58330200-58343000	Weak transcription	Fetal Kidney	kidney
21	chr11:58330400-58338800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr11:58330600-58345000	Weak transcription	Gastric	stomach
23	chr11:58331400-58341000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:58332800-58340200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:58334800-58339600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:58335400-58338800	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr11:58335600-58340400	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:58335800-58339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:58335800-58340400	Weak transcription	Hela-S3	cervix
30	chr11:58336200-58338800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:58336200-58338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:58336200-58339000	Strong transcription	Primary B cells from cord blood	blood
33	chr11:58336400-58338800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:58336400-58338800	Strong transcription	Fetal Stomach	stomach
35	chr11:58336400-58340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:58336800-58339200	Strong transcription	NHDF-Ad	bronchial
37	chr11:58337000-58340600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:58337000-58341200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:58337200-58338800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:58337200-58343800	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:58337400-58340400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:58337400-58340400	Weak transcription	Placenta	Placenta
43	chr11:58337400-58340800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:58337400-58341000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:58337600-58338800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
46	chr11:58337600-58339200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:58337600-58339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:58337600-58340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:58337600-58340400	Weak transcription	Left Ventricle	heart
50	chr11:58337600-58340400	Weak transcription	Pancreas	Pancrea

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