Variant report

Variant	rs12807097
Chromosome Location	chr11:120242348-120242349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120206589..120208463-chr11:120241741..120244477,2	MCF-7	breast:
2	chr11:120240885..120243216-chr11:120268365..120270613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10502235	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10790381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892565	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10892569	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892575	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217843	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217857	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217866	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217874	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217875	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217878	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11823264	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11824032	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11827818	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12270397	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12785387	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12794618	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17123861	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812974	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276035	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4381380	0.94[ASN][1000 genomes]
rs4936517	0.84[ASN][1000 genomes]
rs4936518	0.92[ASN][1000 genomes]
rs4938802	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4938803	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4938806	0.97[ASN][1000 genomes]
rs4938807	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56693116	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6589810	0.97[ASN][1000 genomes]
rs6589813	0.95[ASN][1000 genomes]
rs7101415	0.97[ASN][1000 genomes]
rs7107211	0.85[ASN][1000 genomes]
rs7115714	0.94[ASN][1000 genomes]
rs7129944	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924772	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:120217600-120257000	Weak transcription	HSMM	muscle
3	chr11:120224800-120248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:120225000-120248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:120226400-120242400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:120226400-120246800	Weak transcription	Small Intestine	intestine
9	chr11:120232000-120274800	Weak transcription	Ovary	ovary
10	chr11:120233000-120245800	Weak transcription	NHDF-Ad	bronchial
11	chr11:120233400-120242600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:120234600-120250200	Weak transcription	Osteobl	bone
13	chr11:120234800-120242400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:120235000-120247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:120235600-120252400	Weak transcription	Fetal Lung	lung
16	chr11:120239000-120248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:120239200-120248000	Weak transcription	Right Ventricle	heart
18	chr11:120239200-120252200	Weak transcription	Psoas Muscle	Psoas
19	chr11:120239200-120253800	Weak transcription	Right Atrium	heart
20	chr11:120239800-120250200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:120240600-120243800	Enhancers	Liver	Liver
22	chr11:120241000-120248200	Weak transcription	K562	blood
23	chr11:120241200-120243400	Enhancers	Adipose Nuclei	Adipose
24	chr11:120241400-120244000	Enhancers	HepG2	liver
25	chr11:120241600-120243600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr11:120241600-120243600	Enhancers	Stomach Mucosa	stomach
27	chr11:120241600-120245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:120241600-120245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:120241600-120245800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:120241800-120243400	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:120241800-120245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:120242000-120242400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:120242000-120242600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:120242200-120242800	Enhancers	NHLF	lung
35	chr11:120242200-120243000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:120242200-120243000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:120242200-120243000	Enhancers	A549	lung
38	chr11:120242200-120244200	Enhancers	Fetal Intestine Small	intestine
39	chr11:120242200-120248000	Weak transcription	Left Ventricle	heart

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