Variant report

Variant	rs73181871
Chromosome Location	chr12:105721785-105721786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr12:105720409-105721840	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:105721399-105721842	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105720223..105722150-chr12:105723159..105726102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264749	TF binding region
ENSG00000257642	TF binding region
C12orf75	TF binding region
ENSG00000235162	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11831950	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11836865	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1469663	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1469665	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1864892	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964131	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4964132	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4964359	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56032632	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56130330	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66467637	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67114583	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67454169	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73181867	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
2	chr12:105713800-105723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:105714600-105724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105715800-105723800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:105716000-105723800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:105716400-105723800	Weak transcription	HSMMtube	muscle
7	chr12:105716600-105723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:105716600-105723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:105716800-105723600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:105716800-105723800	Weak transcription	Fetal Intestine Large	intestine
11	chr12:105718000-105723800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:105718200-105723800	Weak transcription	Stomach Mucosa	stomach
13	chr12:105719000-105723800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:105719000-105723800	Weak transcription	HSMM	muscle
15	chr12:105719000-105724000	Weak transcription	Thymus	Thymus
16	chr12:105720000-105721800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:105720000-105723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:105720400-105721800	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:105720400-105723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:105720800-105722400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:105721000-105722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:105721000-105723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:105721000-105723800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:105721000-105723800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:105721000-105723800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:105721200-105722000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:105721200-105722000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:105721200-105722000	Enhancers	NHDF-Ad	bronchial
29	chr12:105721200-105722200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:105721200-105722200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:105721200-105722400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:105721200-105723600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:105721200-105723600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:105721200-105723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:105721200-105723800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:105721200-105723800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:105721200-105723800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:105721200-105723800	Weak transcription	A549	lung
39	chr12:105721200-105723800	Weak transcription	Hela-S3	cervix
40	chr12:105721200-105723800	Weak transcription	HMEC	breast
41	chr12:105721200-105723800	Weak transcription	NHEK	skin
42	chr12:105721200-105723800	Weak transcription	NHLF	lung
43	chr12:105721200-105723800	Weak transcription	Osteobl	bone
44	chr12:105721400-105721800	Enhancers	GM12878-XiMat	blood
45	chr12:105721400-105722400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:105721400-105722600	Weak transcription	Dnd41	blood
47	chr12:105721400-105723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:105721400-105723800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:105721400-105723800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:105721400-105723800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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