Variant report

Variant	rs2276018
Chromosome Location	chr11:85406427-85406428
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85406392..85407913-chr11:85410539..85412560,2	K562	blood:
2	chr11:85404945..85406929-chr11:85457970..85459498,2	MCF-7	breast:
3	chr11:85405093..85406585-chr11:85536858..85537561,5	MCF-7	breast:
4	chr11:85405165..85408368-chr11:85410151..85413068,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10501597	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234386	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234387	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11234390	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234392	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234393	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234395	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234397	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234404	1.00[EUR][1000 genomes]
rs11234408	1.00[EUR][1000 genomes]
rs11234409	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234413	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234415	0.97[EUR][1000 genomes]
rs11234416	1.00[EUR][1000 genomes]
rs11234418	1.00[EUR][1000 genomes]
rs11607789	0.85[CHB][hapmap]
rs12286030	1.00[EUR][1000 genomes]
rs12286206	1.00[EUR][1000 genomes]
rs12365370	0.95[EUR][1000 genomes]
rs17148355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17148514	0.85[CHB][hapmap]
rs17208525	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17208602	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[ASN][1000 genomes]
rs17208616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17810701	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17810766	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[ASN][1000 genomes]
rs17810802	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs17810855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17811120	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044393	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2304342	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2304343	0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2374638	0.91[ASN][1000 genomes]
rs3891432	1.00[EUR][1000 genomes]
rs494119	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs56695336	0.91[ASN][1000 genomes]
rs57431471	0.86[ASN][1000 genomes]
rs58631677	0.93[ASN][1000 genomes]
rs59508078	0.91[ASN][1000 genomes]
rs616309	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs645798	1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs678376	0.85[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs72953982	0.81[ASN][1000 genomes]
rs72953991	0.81[ASN][1000 genomes]
rs72953995	0.86[ASN][1000 genomes]
rs72955904	0.86[ASN][1000 genomes]
rs72955922	0.80[ASN][1000 genomes]
rs72958012	0.91[ASN][1000 genomes]
rs72958014	0.91[ASN][1000 genomes]
rs72958027	0.93[ASN][1000 genomes]
rs7939218	1.00[YRI][hapmap]

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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
2	chr11:85394200-85410600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:85394200-85410800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:85394400-85410400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:85394400-85410600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
7	chr11:85397000-85412600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:85397000-85417400	Weak transcription	Gastric	stomach
9	chr11:85397000-85418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:85397000-85425400	Weak transcription	Lung	lung
11	chr11:85397200-85409200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:85397200-85409200	Weak transcription	Placenta	Placenta
13	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
14	chr11:85397400-85410400	Weak transcription	Left Ventricle	heart
15	chr11:85397600-85407200	Weak transcription	Fetal Kidney	kidney
16	chr11:85397600-85409800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:85397600-85422000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:85397600-85428400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:85397800-85407200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:85397800-85407800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:85397800-85410600	Weak transcription	Fetal Intestine Small	intestine
22	chr11:85397800-85412400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:85397800-85421600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:85397800-85430000	Weak transcription	Ovary	ovary
25	chr11:85398000-85408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:85398000-85427600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:85398400-85413000	Weak transcription	Fetal Stomach	stomach
28	chr11:85400000-85410600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:85400400-85409200	Strong transcription	HSMMtube	muscle
30	chr11:85400400-85411400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:85401200-85410600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:85401600-85407600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:85401800-85407600	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:85402000-85410400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:85404800-85410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:85405000-85418200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:85405600-85407200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:85405600-85407200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:85405600-85407400	Genic enhancers	NHLF	lung
40	chr11:85405800-85406600	Enhancers	A549	lung
41	chr11:85405800-85406800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:85405800-85407000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:85405800-85407400	Enhancers	Osteobl	bone
44	chr11:85406000-85407200	Genic enhancers	HSMM	muscle
45	chr11:85406000-85407600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:85406000-85409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:85406000-85410000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:85406000-85410400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:85406000-85410600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:85406200-85406600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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