Variant report

Variant	rs11685132
Chromosome Location	chr2:10597014-10597015
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:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10592821..10595516-chr2:10596638..10600708,3	MCF-7	breast:
2	chr2:10594206..10596318-chr2:10596724..10599167,2	K562	blood:
3	chr2:10596837..10598747-chr2:10600609..10603052,2	K562	blood:
4	chr2:10588714..10590244-chr2:10595473..10597042,2	MCF-7	breast:
5	chr2:10595054..10599667-chr2:10601551..10605339,4	MCF-7	breast:
6	chr2:10596576..10598747-chr2:10600505..10604062,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
2	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
3	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
4	lnc-HPCAL1-1	chr2:10595549-10597698	XLOC_001342
5	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342

No data

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62127117	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6721235	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv873648	chr2:10584639-10599493	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv1840643	chr2:10585364-10607465	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv873650	chr2:10585458-10597858	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv873651	chr2:10585575-10597858	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	esv1835263	chr2:10587869-10611211	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10589600-10597800	Weak transcription	HSMMtube	muscle
2	chr2:10590400-10600800	Weak transcription	Fetal Lung	lung
3	chr2:10590800-10615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10592400-10598000	Weak transcription	Small Intestine	intestine
5	chr2:10592600-10597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:10592600-10597800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:10592600-10598000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:10592600-10598000	Weak transcription	Pancreas	Pancrea
9	chr2:10592800-10597800	Weak transcription	HSMM	muscle
10	chr2:10592800-10597800	Weak transcription	NHDF-Ad	bronchial
11	chr2:10593400-10597800	Weak transcription	NH-A	brain
12	chr2:10593400-10598400	Weak transcription	Gastric	stomach
13	chr2:10594400-10597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:10595000-10597800	Weak transcription	NHLF	lung
15	chr2:10595200-10597400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:10595200-10597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:10595200-10597800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:10595200-10597800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:10595200-10597800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:10595200-10597800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:10595200-10597800	Weak transcription	Liver	Liver
22	chr2:10595200-10597800	Weak transcription	Right Ventricle	heart
23	chr2:10595200-10597800	Weak transcription	Stomach Mucosa	stomach
24	chr2:10595200-10597800	Weak transcription	Osteobl	bone
25	chr2:10595200-10598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:10595400-10598000	Weak transcription	Esophagus	oesophagus
27	chr2:10595400-10600600	Weak transcription	Right Atrium	heart
28	chr2:10595600-10597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:10595600-10597400	Weak transcription	NHEK	skin
30	chr2:10595600-10597800	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:10595600-10598000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:10595800-10597400	Weak transcription	HMEC	breast
33	chr2:10595800-10597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:10595800-10597800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:10595800-10597800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:10595800-10598000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:10596800-10598400	Weak transcription	Fetal Thymus	thymus

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