Variant report

Variant	rs887315
Chromosome Location	chr11:67088720-67088721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67088208..67091047-chr11:67138396..67140194,2	MCF-7	breast:
2	chr11:67087147..67090755-chr11:67140887..67143094,4	MCF-7	breast:
3	chr11:67088021..67089768-chr11:67113713..67115531,2	K562	blood:
4	chr11:67087454..67090375-chr11:67115840..67118450,2	MCF-7	breast:
5	chr11:67076937..67081863-chr11:67086712..67091272,5	K562	blood:
6	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175505	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172830	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11227699	0.90[MEX][hapmap]
rs12279818	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285097	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417116	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12417429	1.00[EUR][1000 genomes]
rs12417770	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420556	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs12420763	1.00[JPT][hapmap]
rs12421018	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421536	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1573536	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17148080	1.00[JPT][hapmap]
rs17148183	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17880138	0.86[ASN][1000 genomes]
rs17884022	1.00[EUR][1000 genomes]
rs17885585	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1871033	1.00[EUR][1000 genomes]
rs1871044	1.00[EUR][1000 genomes]
rs2066494	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28364240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.89[AMR][1000 genomes]
rs4084238	0.86[ASN][1000 genomes]
rs4382915	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4567468	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4930198	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930432	1.00[EUR][1000 genomes]
rs4930435	1.00[EUR][1000 genomes]
rs61731786	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61758493	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61759803	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61759806	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7396248	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs868167	0.84[ASW][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs887316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs887318	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086000-67090800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:67086000-67104400	Weak transcription	Aorta	Aorta
3	chr11:67086200-67088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:67086200-67090200	Weak transcription	Placenta	Placenta
5	chr11:67086200-67092200	Weak transcription	HSMMtube	muscle
6	chr11:67086200-67097400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:67086200-67101400	Weak transcription	Colonic Mucosa	Colon
8	chr11:67086200-67113600	Weak transcription	Osteobl	bone
9	chr11:67086400-67088800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:67086400-67088800	Weak transcription	K562	blood
11	chr11:67086400-67098000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:67086400-67100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:67086400-67102800	Weak transcription	Liver	Liver
14	chr11:67086400-67104000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:67086400-67110200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:67086400-67111200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:67086400-67111600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:67086400-67112600	Weak transcription	Fetal Lung	lung
19	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
20	chr11:67086600-67089000	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:67086600-67089600	Weak transcription	Esophagus	oesophagus
22	chr11:67086600-67090000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:67086600-67090200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:67086600-67091000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:67086600-67091400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:67086600-67096000	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:67086600-67097800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:67086600-67099600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:67086600-67100600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:67086600-67103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:67086600-67111200	Weak transcription	Primary B cells from cord blood	blood
32	chr11:67086600-67111200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:67086600-67118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:67086800-67088800	Weak transcription	Lung	lung
35	chr11:67086800-67088800	Weak transcription	Pancreas	Pancrea
36	chr11:67086800-67088800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:67086800-67091200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:67086800-67092800	Weak transcription	Dnd41	blood
39	chr11:67086800-67099000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:67086800-67099000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:67086800-67100200	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:67086800-67101200	Weak transcription	A549	lung
43	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
44	chr11:67087000-67088800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:67087000-67088800	Weak transcription	Brain Anterior Caudate	brain
46	chr11:67087000-67089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:67087000-67092200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:67087000-67099000	Weak transcription	NHEK	skin
49	chr11:67087000-67100400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:67087000-67101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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