Variant report

Variant	rs461066
Chromosome Location	chr12:118718958-118718959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118718687..118720967-chr12:118721247..118724156,2	MCF-7	breast:
2	chr12:118718803..118721131-chr12:118813506..118815349,2	K562	blood:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17586463	0.84[ASN][1000 genomes]
rs458655	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
2	chr12:118652200-118727800	Weak transcription	NHLF	lung
3	chr12:118669000-118725200	Weak transcription	K562	blood
4	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:118674000-118726200	Weak transcription	Lung	lung
7	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
12	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:118694800-118719800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:118697600-118723600	Weak transcription	Pancreas	Pancrea
18	chr12:118699200-118737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:118699800-118727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:118699800-118733800	Weak transcription	Fetal Stomach	stomach
21	chr12:118699800-118736000	Weak transcription	Fetal Intestine Small	intestine
22	chr12:118700200-118737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:118700400-118738000	Weak transcription	Fetal Intestine Large	intestine
24	chr12:118700600-118719000	Weak transcription	HSMMtube	muscle
25	chr12:118702600-118744600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:118702800-118726200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:118703800-118720000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:118703800-118720200	Weak transcription	Dnd41	blood
29	chr12:118703800-118720400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:118704000-118739000	Weak transcription	NHDF-Ad	bronchial
31	chr12:118704200-118719200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:118709800-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:118710400-118720400	Weak transcription	Psoas Muscle	Psoas
34	chr12:118710800-118738000	Weak transcription	NHEK	skin
35	chr12:118711000-118720400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:118711600-118723800	Weak transcription	Placenta	Placenta
37	chr12:118712200-118739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:118712400-118745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:118712600-118730600	Weak transcription	GM12878-XiMat	blood
40	chr12:118712600-118737400	Weak transcription	Small Intestine	intestine
41	chr12:118712800-118720200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:118712800-118738000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:118713200-118720000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:118713200-118723600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:118714000-118727600	Weak transcription	Esophagus	oesophagus
46	chr12:118715000-118741200	Weak transcription	Thymus	Thymus
47	chr12:118716200-118728000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:118717000-118721600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:118717000-118722600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:118717200-118720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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