Variant report

Variant	rs11180652
Chromosome Location	chr12:76113900-76113901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76104622..76106937-chr12:76111729..76114237,3	K562	blood:
2	chr12:76113884..76115527-chr12:76165233..76166902,2	MCF-7	breast:
3	chr12:76096760..76101934-chr12:76112737..76117926,8	MCF-7	breast:
4	chr12:76111051..76121376-chr12:76416110..76428653,27	MCF-7	breast:
5	chr12:76113335..76115778-chr12:76425747..76428219,2	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12299593	1.00[EUR][1000 genomes]
rs12302680	1.00[EUR][1000 genomes]
rs12303983	1.00[EUR][1000 genomes]
rs12304347	1.00[EUR][1000 genomes]
rs12322226	1.00[EUR][1000 genomes]
rs17115466	1.00[EUR][1000 genomes]
rs17115477	1.00[EUR][1000 genomes]
rs28733031	1.00[EUR][1000 genomes]
rs74112464	1.00[EUR][1000 genomes]
rs9805125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76098800-76114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:76098800-76114400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:76100000-76115200	Weak transcription	Pancreas	Pancrea
4	chr12:76101400-76114200	Weak transcription	Left Ventricle	heart
5	chr12:76101400-76114800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:76101800-76114200	Weak transcription	NHLF	lung
7	chr12:76103600-76115600	Weak transcription	Aorta	Aorta
8	chr12:76104000-76114400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:76104600-76114200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:76105000-76114600	Weak transcription	NHDF-Ad	bronchial
11	chr12:76105600-76114400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:76106200-76115800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:76106400-76114600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:76106600-76114600	Weak transcription	NH-A	brain
15	chr12:76107000-76114200	Weak transcription	Right Ventricle	heart
16	chr12:76107000-76114400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:76108800-76114200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:76110600-76114200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:76110800-76114200	Weak transcription	HepG2	liver
20	chr12:76110800-76114400	Weak transcription	A549	lung
21	chr12:76110800-76114600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:76112800-76114800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:76112800-76114800	Enhancers	NHEK	skin
24	chr12:76113000-76114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:76113200-76114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:76113200-76116600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:76113200-76117000	Enhancers	Fetal Brain Male	brain
28	chr12:76113200-76117400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:76113200-76118000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:76113400-76114000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:76113400-76114400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:76113400-76114800	Enhancers	HMEC	breast
33	chr12:76113400-76115400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:76113400-76117600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:76113600-76114000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:76113600-76114000	Enhancers	Esophagus	oesophagus
37	chr12:76113600-76114400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:76113600-76114600	Enhancers	Hela-S3	cervix
39	chr12:76113600-76116000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:76113600-76117600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:76113600-76117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:76113600-76118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:76113600-76120000	Enhancers	Fetal Stomach	stomach
44	chr12:76113600-76120200	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:76113800-76114200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:76113800-76114200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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