Variant report

Variant	rs12143140
Chromosome Location	chr1:85723733-85723734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85666179..85667836-chr1:85723614..85725791,2	K562	blood:
2	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
3	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
4	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1077996	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11161571	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11161573	0.91[AFR][1000 genomes]
rs2647394	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85707800-85724400	Weak transcription	Lung	lung
2	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
3	chr1:85710400-85724000	Weak transcription	Ovary	ovary
4	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
5	chr1:85710600-85723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:85710800-85724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:85710800-85724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:85710800-85724400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:85710800-85724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:85711600-85723800	Weak transcription	HSMMtube	muscle
11	chr1:85712200-85724000	Weak transcription	Fetal Stomach	stomach
12	chr1:85713200-85724000	Weak transcription	Thymus	Thymus
13	chr1:85714600-85724200	Weak transcription	Gastric	stomach
14	chr1:85715000-85724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:85715200-85724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:85716200-85723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:85716800-85723800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:85716800-85723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:85717000-85723800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:85718200-85724200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:85718400-85724000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:85718600-85723800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:85719000-85724000	Weak transcription	Psoas Muscle	Psoas
24	chr1:85719200-85724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:85719200-85724000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:85719600-85724200	Weak transcription	Esophagus	oesophagus
27	chr1:85720200-85724400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:85721600-85723800	Genic enhancers	Colon Smooth Muscle	Colon
29	chr1:85722000-85724000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:85722600-85723800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:85722600-85723800	Genic enhancers	Muscle Satellite Cultured Cells	--
32	chr1:85722600-85724000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:85722600-85724000	Enhancers	Fetal Heart	heart
34	chr1:85722600-85724000	Enhancers	Fetal Intestine Small	intestine
35	chr1:85722600-85724000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr1:85722600-85724000	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr1:85722600-85724200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:85722600-85724200	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:85722600-85724600	Enhancers	Small Intestine	intestine
40	chr1:85722800-85723800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:85722800-85723800	Genic enhancers	HMEC	breast
42	chr1:85722800-85724000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:85722800-85724000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:85722800-85724000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:85722800-85724000	Genic enhancers	HUVEC	blood vessel
46	chr1:85722800-85724000	Genic enhancers	NHEK	skin
47	chr1:85722800-85724200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
48	chr1:85722800-85724200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:85722800-85724400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:85723000-85723800	Genic enhancers	Duodenum Mucosa	Duodenum

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