Variant report

Variant	rs3015986
Chromosome Location	chr11:77170316-77170317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77168519..77171597-chr11:77180665..77182753,3	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11237160	0.86[AFR][1000 genomes]
rs11237162	0.86[AFR][1000 genomes]
rs11237164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1125619	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1225478	0.82[EUR][1000 genomes]
rs1237490	0.83[EUR][1000 genomes]
rs1377472	0.86[AFR][1000 genomes]
rs1597954	0.86[AFR][1000 genomes]
rs1622364	0.86[AFR][1000 genomes]
rs1670449	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1670458	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1670461	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1670462	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1793471	0.86[AFR][1000 genomes]
rs1793472	0.86[AFR][1000 genomes]
rs1793487	0.86[AFR][1000 genomes]
rs1793490	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2154754	0.88[EUR][1000 genomes]
rs2602476	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602483	0.86[AFR][1000 genomes]
rs2602487	0.83[EUR][1000 genomes]
rs2725820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2725822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes]
rs2725825	0.86[AFR][1000 genomes]
rs3015982	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015983	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019233	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019234	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019235	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019236	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019249	0.92[EUR][1000 genomes]
rs3019257	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34025917	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880271	0.89[EUR][1000 genomes]
rs472691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476258	0.83[EUR][1000 genomes]
rs479104	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs494289	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs503406	0.91[EUR][1000 genomes]
rs505841	0.83[EUR][1000 genomes]
rs508662	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs51500	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs520938	0.87[EUR][1000 genomes]
rs522015	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs523481	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs531638	0.87[EUR][1000 genomes]
rs535008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs552323	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs557484	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs558470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs560571	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs561386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs562845	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs563731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs572485	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576220	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs580624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs592602	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs595654	0.87[EUR][1000 genomes]
rs598801	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs644551	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs649040	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs653792	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs674259	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs683455	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683762	0.93[EUR][1000 genomes]
rs684793	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs686068	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs689108	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7934230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949721	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:77163000-77173400	Weak transcription	Placenta	Placenta
5	chr11:77165000-77172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:77165200-77170800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:77165800-77171200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:77166200-77172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:77167800-77182000	Weak transcription	Fetal Kidney	kidney
10	chr11:77168000-77170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:77168400-77170600	Enhancers	Brain Hippocampus Middle	brain
12	chr11:77168400-77172200	Enhancers	Fetal Intestine Small	intestine
13	chr11:77168600-77170400	Enhancers	Stomach Mucosa	stomach
14	chr11:77168600-77173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:77168600-77173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:77168600-77178800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:77168800-77170400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:77168800-77170600	Weak transcription	Psoas Muscle	Psoas
19	chr11:77168800-77179600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:77169000-77171000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:77169000-77173000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:77169000-77174600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:77169000-77175200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:77169000-77181400	Weak transcription	Brain Angular Gyrus	brain
25	chr11:77169200-77173000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:77169400-77170400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:77169400-77170600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:77169600-77171000	Weak transcription	Brain Substantia Nigra	brain
29	chr11:77169800-77170400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:77169800-77170400	Enhancers	A549	lung
31	chr11:77169800-77170600	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:77169800-77170600	Enhancers	Fetal Intestine Large	intestine
33	chr11:77169800-77170600	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:77169800-77170800	Enhancers	HepG2	liver
35	chr11:77170000-77170400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:77170000-77170400	Flanking Active TSS	Liver	Liver
37	chr11:77170000-77170400	Enhancers	Brain Germinal Matrix	brain
38	chr11:77170000-77170400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:77170000-77170600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:77170000-77170600	Enhancers	Primary B cells from cord blood	blood
41	chr11:77170000-77170600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:77170000-77170600	Enhancers	Small Intestine	intestine
43	chr11:77170200-77170400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:77170200-77170400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:77170200-77170400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr11:77170200-77170600	Enhancers	Brain Anterior Caudate	brain
47	chr11:77170200-77170800	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:77170200-77170800	Enhancers	Sigmoid Colon	Sigmoid Colon

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