Variant report

Variant	rs11180693
Chromosome Location	chr12:76210704-76210705
allele	A/T
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	chr12:76101957..76104575-chr12:76208488..76210993,2	MCF-7	breast:
5	chr12:76208408..76211857-chr12:76424020..76427077,5	MCF-7	breast:
6	chr12:76104914..76106748-chr12:76210203..76212356,2	MCF-7	breast:
7	chr12:76210474..76211264-chr12:76425201..76425766,3	MCF-7	breast:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10506664	0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11180691	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180694	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180699	0.92[ASN][1000 genomes]
rs11180700	0.90[AFR][1000 genomes]
rs11180706	0.89[JPT][hapmap]
rs11180707	0.88[JPT][hapmap]
rs11180718	0.88[JPT][hapmap]
rs1275563	0.84[ASN][1000 genomes]
rs1299468	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17115738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115780	0.88[JPT][hapmap]
rs34148649	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs937245	0.85[ASN][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:53 , 50 per page) page: 1 2

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	chr12:76206800-76210800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:76207600-76213200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:76208200-76211200	Enhancers	HMEC	breast
10	chr12:76208400-76210800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:76208400-76211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:76208600-76211000	Enhancers	Fetal Kidney	kidney
13	chr12:76208600-76211200	Enhancers	Osteobl	bone
14	chr12:76208800-76211400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:76208800-76211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:76208800-76221200	Enhancers	NHLF	lung
17	chr12:76209000-76210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:76209000-76213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:76209000-76214000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:76209200-76213600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:76209400-76212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:76209400-76212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:76209400-76212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:76209400-76214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:76209400-76214400	Weak transcription	Fetal Lung	lung
26	chr12:76209600-76214000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:76209800-76210800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:76209800-76210800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:76209800-76210800	Weak transcription	NH-A	brain
30	chr12:76209800-76211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:76209800-76211400	Weak transcription	Right Atrium	heart
32	chr12:76209800-76211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:76209800-76212400	Weak transcription	HSMMtube	muscle
34	chr12:76209800-76214200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:76209800-76214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:76209800-76214400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:76209800-76214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:76209800-76214600	Weak transcription	Ovary	ovary
39	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
40	chr12:76210000-76210800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:76210000-76211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:76210000-76212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:76210000-76212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:76210000-76212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:76210000-76214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:76210000-76214200	Weak transcription	HSMM	muscle
47	chr12:76210000-76214800	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
49	chr12:76210200-76211400	Enhancers	A549	lung
50	chr12:76210200-76212400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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