Variant report

Variant	rs11833012
Chromosome Location	chr12:12677710-12677711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12676154..12677988-chr12:12685954..12688802,2	MCF-7	breast:
2	chr12:12676963..12678914-chr12:12679102..12682035,2	MCF-7	breast:
3	chr12:12676702..12679662-chr12:12711991..12714895,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17312912	1.00[ASN][1000 genomes]
rs17377986	1.00[ASN][1000 genomes]
rs4529965	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763288	1.00[ASN][1000 genomes]
rs4763289	1.00[ASN][1000 genomes]
rs56015540	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063421	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063424	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063430	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063437	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv523366	chr12:12665246-12679124	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv33583	chr12:12665776-12679108	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv523022	chr12:12673551-12688181	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
7	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:12664000-12690400	Weak transcription	NHLF	lung
10	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial
11	chr12:12665000-12685600	Weak transcription	HMEC	breast
12	chr12:12665000-12686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:12665800-12678800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:12666800-12681200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:12667400-12686400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:12667600-12680800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:12668000-12680800	Weak transcription	Right Atrium	heart
18	chr12:12671200-12681200	Weak transcription	HUVEC	blood vessel
19	chr12:12671400-12686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:12671400-12686200	Weak transcription	Fetal Stomach	stomach
21	chr12:12671600-12678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:12671600-12680800	Weak transcription	Lung	lung
23	chr12:12672000-12678000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:12672400-12680600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:12672600-12677800	Weak transcription	HSMMtube	muscle
26	chr12:12672800-12691200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:12673000-12678400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:12673000-12678600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:12673000-12679600	Weak transcription	Fetal Lung	lung
30	chr12:12673000-12680600	Weak transcription	Osteobl	bone
31	chr12:12673000-12680800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:12673000-12680800	Weak transcription	Ovary	ovary
33	chr12:12673000-12681200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:12673000-12685200	Weak transcription	NHEK	skin
35	chr12:12673000-12690200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:12673200-12680800	Weak transcription	A549	lung
37	chr12:12673200-12682600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:12674200-12678800	Weak transcription	Primary T cells from cord blood	blood
39	chr12:12674200-12679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:12674200-12679600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:12674200-12680800	Weak transcription	Placenta	Placenta
42	chr12:12674200-12691200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:12674400-12679600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:12674400-12679800	Weak transcription	Small Intestine	intestine
45	chr12:12674400-12680600	Weak transcription	Esophagus	oesophagus
46	chr12:12674400-12680600	Weak transcription	GM12878-XiMat	blood
47	chr12:12674400-12680800	Weak transcription	Aorta	Aorta
48	chr12:12674400-12681000	Weak transcription	Adipose Nuclei	Adipose
49	chr12:12674400-12681200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:12674400-12681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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