Variant report

Variant	rs11180694
Chromosome Location	chr12:76211056-76211057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76210515..76211180-chr12:76430859..76431384,2	MCF-7	breast:
2	chr12:76210484..76211077-chr12:76424868..76425432,2	MCF-7	breast:
3	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:
4	chr12:76208408..76211857-chr12:76424020..76427077,5	MCF-7	breast:
5	chr12:76104914..76106748-chr12:76210203..76212356,2	MCF-7	breast:
6	chr12:76210474..76211264-chr12:76425201..76425766,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10506664	0.83[AMR][1000 genomes]
rs11180691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180692	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180693	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180698	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11180699	0.87[AFR][1000 genomes]
rs11180700	0.93[ASN][1000 genomes]
rs12809551	0.88[ASN][1000 genomes]
rs12819031	0.86[ASN][1000 genomes]
rs1299468	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115738	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34148649	0.82[EUR][1000 genomes]
rs34175277	0.86[ASN][1000 genomes]
rs34198570	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34666369	0.83[ASN][1000 genomes]
rs35630793	0.83[ASN][1000 genomes]
rs71460148	0.88[ASN][1000 genomes]
rs71460151	0.83[ASN][1000 genomes]
rs937245	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2474492	chr12:76210533-76212017	Weak transcription Enhancers	Chromatin interactive region	3 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	chr12:76203600-76212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76206600-76214400	Enhancers	NHDF-Ad	bronchial
3	chr12:76206600-76214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:76207600-76213200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:76208200-76211200	Enhancers	HMEC	breast
9	chr12:76208400-76211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:76208600-76211200	Enhancers	Osteobl	bone
11	chr12:76208800-76211400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:76208800-76211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:76208800-76221200	Enhancers	NHLF	lung
14	chr12:76209000-76213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:76209000-76214000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:76209200-76213600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:76209400-76212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:76209400-76212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:76209400-76212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:76209400-76214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:76209400-76214400	Weak transcription	Fetal Lung	lung
22	chr12:76209600-76214000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:76209800-76211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:76209800-76211400	Weak transcription	Right Atrium	heart
25	chr12:76209800-76211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:76209800-76212400	Weak transcription	HSMMtube	muscle
27	chr12:76209800-76214200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:76209800-76214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:76209800-76214400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:76209800-76214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:76209800-76214600	Weak transcription	Ovary	ovary
32	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
33	chr12:76210000-76211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:76210000-76212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:76210000-76212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:76210000-76212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:76210000-76214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:76210000-76214200	Weak transcription	HSMM	muscle
39	chr12:76210000-76214800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
41	chr12:76210200-76211400	Enhancers	A549	lung
42	chr12:76210200-76212400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:76210400-76211400	Enhancers	NHEK	skin
44	chr12:76210600-76211200	Enhancers	HUVEC	blood vessel
45	chr12:76210800-76211200	Enhancers	NH-A	brain
46	chr12:76210800-76213000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:76211000-76212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:76211000-76213200	Weak transcription	Fetal Kidney	kidney

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