Variant report

Variant	rs7814083
Chromosome Location	chr8:126381867-126381868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126374530..126376049-chr8:126380618..126383134,2	K562	blood:
2	chr8:126375605..126377607-chr8:126380197..126382660,2	K562	blood:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10099164	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108110	0.93[ASN][1000 genomes]
rs10808543	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4242368	0.97[ASN][1000 genomes]
rs4255155	0.80[ASN][1000 genomes]
rs4871584	0.97[ASN][1000 genomes]
rs4871588	0.80[ASN][1000 genomes]
rs6981550	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6989407	0.93[ASN][1000 genomes]
rs7000501	0.81[ASN][1000 genomes]
rs7010333	0.94[ASN][1000 genomes]
rs7015414	0.94[ASN][1000 genomes]
rs7818760	0.91[ASN][1000 genomes]
rs7819612	0.95[ASN][1000 genomes]
rs7820471	0.93[ASN][1000 genomes]
rs7834279	0.80[ASN][1000 genomes]
rs7841947	0.92[ASN][1000 genomes]
rs7844497	0.87[AFR][1000 genomes];0.97[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	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
3	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:126369600-126382000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:126372800-126382200	Weak transcription	Fetal Kidney	kidney
6	chr8:126372800-126383000	Weak transcription	Hela-S3	cervix
7	chr8:126372800-126383600	Weak transcription	Liver	Liver
8	chr8:126375200-126382000	Weak transcription	Gastric	stomach
9	chr8:126375200-126383000	Weak transcription	Aorta	Aorta
10	chr8:126375400-126382600	Weak transcription	Right Ventricle	heart
11	chr8:126375400-126383200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:126375400-126383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:126375400-126383800	Weak transcription	Primary T cells from cord blood	blood
14	chr8:126375400-126383800	Weak transcription	NHLF	lung
15	chr8:126375400-126385800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:126375400-126391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:126375600-126383200	Weak transcription	HMEC	breast
18	chr8:126375600-126383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:126375600-126383800	Weak transcription	NHEK	skin
20	chr8:126375800-126383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:126375800-126383000	Weak transcription	HUVEC	blood vessel
22	chr8:126377400-126383000	Weak transcription	HSMMtube	muscle
23	chr8:126377600-126383200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:126377600-126383200	Weak transcription	Osteobl	bone
25	chr8:126377600-126383800	Weak transcription	HSMM	muscle
26	chr8:126377600-126386200	Weak transcription	Ovary	ovary
27	chr8:126377800-126383200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:126379400-126382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:126379400-126383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:126379800-126382000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr8:126380000-126382000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:126380000-126382000	ZNF genes & repeats	Dnd41	blood
33	chr8:126380000-126382400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr8:126380200-126382400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:126380200-126385800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:126380400-126383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:126380400-126387400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:126380600-126382400	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:126380600-126383200	Weak transcription	Fetal Lung	lung
40	chr8:126381000-126382400	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr8:126381200-126382000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr8:126381200-126382200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:126381200-126382400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:126381400-126382000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr8:126381400-126382000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr8:126381600-126382000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:126381600-126382000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:126381600-126382000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:126381600-126382200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr8:126381600-126382200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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