Variant report

Variant	rs6831234
Chromosome Location	chr4:57984311-57984312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10024901	0.85[EUR][1000 genomes]
rs11133487	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6817778	0.97[EUR][1000 genomes]
rs6832199	0.85[EUR][1000 genomes]
rs6833847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9992658	0.85[EUR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3422877	chr4:57984092-57984392	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57977600-57985000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:57977600-57985000	Weak transcription	A549	lung
3	chr4:57977600-57985200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:57977800-57985000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:57978000-57984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:57978800-57984800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:57978800-57985200	Weak transcription	Ovary	ovary
8	chr4:57978800-57985800	Weak transcription	Lung	lung
9	chr4:57979000-57984600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:57979000-57985200	Weak transcription	Aorta	Aorta
11	chr4:57979200-57984400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:57979200-57985000	Weak transcription	NHEK	skin
13	chr4:57979200-57985200	Weak transcription	Fetal Kidney	kidney
14	chr4:57980200-57985000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:57980400-57984800	Weak transcription	Brain Substantia Nigra	brain
16	chr4:57980400-57985000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:57980600-57985000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:57980800-57984800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:57981600-57984400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:57981600-57984600	Weak transcription	NHDF-Ad	bronchial
21	chr4:57981600-57985000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:57981600-57985000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:57981600-57985000	Weak transcription	Fetal Heart	heart
24	chr4:57981800-57984400	Weak transcription	HUVEC	blood vessel
25	chr4:57981800-57984800	Weak transcription	HMEC	breast
26	chr4:57982600-57984400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:57982600-57985000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:57982600-57985000	Enhancers	Hela-S3	cervix
29	chr4:57982800-57984400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:57983400-57984600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:57983400-57985000	Enhancers	Osteobl	bone
32	chr4:57983600-57984400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:57983600-57985000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:57983600-57985000	Weak transcription	Adipose Nuclei	Adipose
35	chr4:57983600-57985000	Weak transcription	Fetal Lung	lung
36	chr4:57983600-57985200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:57984000-57984800	Enhancers	HSMMtube	muscle
38	chr4:57984000-57985000	Enhancers	NH-A	brain
39	chr4:57984000-57985200	Enhancers	Left Ventricle	heart
40	chr4:57984000-57985400	Enhancers	Right Atrium	heart
41	chr4:57984000-57985600	Enhancers	HSMM	muscle
42	chr4:57984000-57986000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:57984000-57986400	Enhancers	Fetal Stomach	stomach
44	chr4:57984200-57984600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:57984200-57984800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:57984200-57985000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:57984200-57985000	Enhancers	Colon Smooth Muscle	Colon
48	chr4:57984200-57986000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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