Variant report

Variant	rs989364
Chromosome Location	chr1:84844723-84844724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12038846	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044734	0.82[CEU][hapmap]
rs315512	0.82[EUR][1000 genomes]
rs576888	0.82[CEU][hapmap]
rs579351	0.87[CEU][hapmap]
rs7554646	0.82[CEU][hapmap]

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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84839600-84845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:84840200-84845800	Enhancers	Osteobl	bone
3	chr1:84840400-84846400	Enhancers	NHDF-Ad	bronchial
4	chr1:84840600-84845800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:84840800-84846400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:84842000-84845600	Enhancers	NH-A	brain
7	chr1:84842800-84845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:84843000-84845600	Enhancers	NHEK	skin
9	chr1:84843200-84845800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:84843600-84844800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:84843600-84845000	Weak transcription	Hela-S3	cervix
12	chr1:84843600-84845400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:84843800-84845000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:84843800-84845400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:84843800-84846400	Enhancers	NHLF	lung
16	chr1:84843800-84847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:84844000-84844800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:84844000-84845000	Weak transcription	HMEC	breast
19	chr1:84844000-84853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:84844200-84845800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:84844200-84845800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:84844400-84845600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:84844400-84845600	Enhancers	HSMMtube	muscle
24	chr1:84844400-84845800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:84844600-84844800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:84844600-84845600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:84844600-84845600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:84844600-84845600	Enhancers	HSMM	muscle
29	chr1:84844600-84845600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:84844600-84845800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:84844600-84845800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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