Variant report

Variant	rs11234427
Chromosome Location	chr11:85536995-85536996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85449712..85452124-chr11:85536910..85538885,2	MCF-7	breast:
2	chr11:85535692..85538329-chr11:85564444..85566884,2	MCF-7	breast:
3	chr11:85536056..85537864-chr11:85539070..85542724,4	K562	blood:
4	chr11:85368566..85377997-chr11:85535712..85544822,15	MCF-7	breast:
5	chr11:85520966..85522059-chr11:85536950..85537673,3	MCF-7	breast:
6	chr11:85405093..85406585-chr11:85536858..85537561,5	MCF-7	breast:
7	chr11:85306486..85307001-chr11:85536829..85537808,2	K562	blood:
8	chr11:85535201..85544742-chr11:85551836..85558472,22	MCF-7	breast:
9	chr11:85495095..85500419-chr11:85536956..85541120,6	MCF-7	breast:
10	chr11:85521529..85522208-chr11:85536774..85537392,2	MCF-7	breast:
11	chr11:85535912..85542788-chr11:85553207..85557743,22	MCF-7	breast:
12	chr11:85371076..85377725-chr11:85533880..85541610,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215504	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000150676	Chromatin interaction
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10898422	0.94[GIH][hapmap]
rs11234397	0.87[GIH][hapmap]
rs11234450	1.00[GIH][hapmap]
rs11234460	1.00[GIH][hapmap]
rs11234461	1.00[GIH][hapmap]
rs12360932	1.00[GIH][hapmap]
rs12362209	1.00[GIH][hapmap]
rs12363624	1.00[GIH][hapmap]
rs17209127	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811120	0.93[GIH][hapmap]
rs2304343	0.94[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
7	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
8	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
9	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv975332	chr11:85535584-85559775	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85524800-85537200	Weak transcription	Small Intestine	intestine
2	chr11:85532400-85538800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr11:85532400-85540000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:85532600-85539200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr11:85532600-85539600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:85532800-85539200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:85532800-85540000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:85533000-85537200	Weak transcription	Hela-S3	cervix
9	chr11:85533200-85538400	Weak transcription	NH-A	brain
10	chr11:85533200-85539800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:85533400-85538400	Weak transcription	Pancreas	Pancrea
12	chr11:85534000-85537000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:85534000-85537200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:85534000-85537200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:85534000-85537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:85534200-85537400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:85534200-85537400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:85534200-85537400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:85534200-85537600	Weak transcription	Osteobl	bone
20	chr11:85534200-85538200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:85534400-85537000	Weak transcription	HSMM	muscle
22	chr11:85534400-85537400	Weak transcription	HMEC	breast
23	chr11:85534600-85540000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:85534800-85539200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:85535200-85540000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:85535400-85537000	Weak transcription	HSMMtube	muscle
27	chr11:85535400-85537600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:85535400-85537600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:85535400-85539400	Enhancers	Primary T cells from cord blood	blood
30	chr11:85535400-85539800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:85535600-85538200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:85535600-85540000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:85535800-85539200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:85536000-85537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:85536000-85537400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:85536000-85537400	Weak transcription	Fetal Thymus	thymus
37	chr11:85536200-85537200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:85536200-85537400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:85536200-85537600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:85536400-85538200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:85536400-85543400	Enhancers	Stomach Mucosa	stomach
42	chr11:85536600-85538400	Enhancers	NHDF-Ad	bronchial
43	chr11:85536600-85538600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:85536600-85538600	Enhancers	A549	lung
45	chr11:85536600-85539000	Enhancers	Fetal Muscle Leg	muscle
46	chr11:85536600-85539200	Enhancers	Fetal Lung	lung
47	chr11:85536600-85539400	Enhancers	Fetal Kidney	kidney
48	chr11:85536600-85540000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:85536600-85540000	Enhancers	NHLF	lung
50	chr11:85536800-85537600	Enhancers	Fetal Heart	heart

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