Variant report

Variant	rs510948
Chromosome Location	chr11:85473248-85473249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85473245..85476644-chr11:85486524..85489414,3	MCF-7	breast:
2	chr11:85374448..85377150-chr11:85472660..85474200,2	MCF-7	breast:
3	chr11:85471592..85474349-chr11:85479281..85481547,2	MCF-7	breast:
4	chr11:85466239..85468587-chr11:85472162..85474352,2	MCF-7	breast:
5	chr11:85471983..85474269-chr11:85484169..85487158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10501595	0.88[JPT][hapmap]
rs11234410	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1151152	0.88[ASN][1000 genomes]
rs11604141	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604178	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1192	0.82[JPT][hapmap]
rs1214001	0.82[JPT][hapmap]
rs12419172	0.88[JPT][hapmap]
rs12792050	0.88[ASN][1000 genomes]
rs1445513	0.95[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17208492	0.88[JPT][hapmap]
rs17208519	0.88[JPT][hapmap]
rs17810659	0.88[JPT][hapmap]
rs17817179	0.90[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs188311	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap]
rs1892872	0.88[JPT][hapmap]
rs1991923	0.88[JPT][hapmap]
rs2290823	0.88[JPT][hapmap]
rs2467059	0.94[JPT][hapmap]
rs290173	0.81[CEU][hapmap]
rs290175	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs290177	0.94[JPT][hapmap]
rs290182	0.88[JPT][hapmap]
rs290186	0.94[JPT][hapmap]
rs290190	0.87[CEU][hapmap]
rs290194	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs290196	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs290199	0.95[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap]
rs290200	0.87[CEU][hapmap]
rs290202	0.88[CEU][hapmap]
rs3862785	0.84[CHB][hapmap]
rs491867	0.83[CEU][hapmap]
rs493673	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4943925	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs4944529	0.88[JPT][hapmap]
rs4944531	0.88[JPT][hapmap]
rs4944539	0.91[CHD][hapmap]
rs496187	0.83[CEU][hapmap]
rs497158	0.87[ASN][1000 genomes]
rs520629	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs521764	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs537266	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs537604	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540063	0.87[CEU][hapmap]
rs543995	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs550404	0.87[CEU][hapmap]
rs556669	0.87[CEU][hapmap]
rs558377	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs565494	0.89[ASN][1000 genomes]
rs56579	0.94[JPT][hapmap]
rs573766	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs578324	0.91[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs580459	0.87[CEU][hapmap]
rs583122	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs589327	0.87[CEU][hapmap]
rs592380	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs592712	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.96[ASN][1000 genomes]
rs597480	0.83[CEU][hapmap]
rs609012	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.94[ASN][1000 genomes]
rs613973	0.87[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs61907272	0.84[ASN][1000 genomes]
rs631104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631410	0.83[CEU][hapmap]
rs639688	0.87[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641393	0.83[CEU][hapmap]
rs644558	0.88[ASN][1000 genomes]
rs644972	0.83[CEU][hapmap]
rs647912	0.83[CEU][hapmap]
rs650036	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs650970	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653559	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs666176	0.95[ASN][1000 genomes]
rs667080	0.86[ASN][1000 genomes]
rs679204	0.87[CEU][hapmap]
rs680498	0.91[CEU][hapmap]
rs681044	0.87[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs683903	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs688741	0.87[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs7119617	0.82[JPT][hapmap]
rs7943586	0.88[JPT][hapmap]
rs881121	0.88[JPT][hapmap]
rs947861	0.88[JPT][hapmap]
rs947863	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv555633	chr11:85426330-85473883	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2757459	chr11:85436868-85473347	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
2	chr11:85448000-85480600	Weak transcription	Fetal Stomach	stomach
3	chr11:85449200-85478400	Weak transcription	Right Ventricle	heart
4	chr11:85460600-85483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:85463200-85478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:85467600-85477600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:85469400-85485400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:85469800-85477000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:85469800-85477800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:85470400-85473600	Enhancers	NHDF-Ad	bronchial
11	chr11:85470400-85473800	Enhancers	HMEC	breast
12	chr11:85471000-85473400	Enhancers	Stomach Mucosa	stomach
13	chr11:85471000-85473600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:85471200-85473800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:85471200-85477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:85471600-85476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:85471600-85477600	Weak transcription	NHLF	lung
18	chr11:85471800-85473600	Weak transcription	Hela-S3	cervix
19	chr11:85471800-85482600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:85471800-85483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:85472000-85473400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:85472000-85473800	Weak transcription	Primary T cells from cord blood	blood
23	chr11:85472000-85474600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:85472000-85477000	Weak transcription	Small Intestine	intestine
25	chr11:85472000-85480600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:85472000-85481200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:85472000-85485400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:85472200-85474600	Weak transcription	Fetal Kidney	kidney
29	chr11:85472200-85475400	Weak transcription	HSMMtube	muscle
30	chr11:85472200-85477800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:85472200-85478800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:85472600-85474600	Weak transcription	Gastric	stomach
33	chr11:85472600-85475400	Weak transcription	HSMM	muscle
34	chr11:85472600-85475600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:85472600-85484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:85473000-85474000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:85473200-85473400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:85473200-85473400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:85473200-85473600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:85473200-85473600	Enhancers	A549	lung
41	chr11:85473200-85473600	Enhancers	NHEK	skin
42	chr11:85473200-85473800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:85473200-85473800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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