Variant report

Variant	rs404937
Chromosome Location	chr1:120196922-120196923
allele	A/C/G
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:3)

rs_ID	r²[population]
rs380155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs481357	0.83[CHB][hapmap]
rs496886	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS 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 target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120191600-120202200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:120191800-120198600	Weak transcription	Placenta	Placenta
3	chr1:120192000-120198000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:120192000-120198000	Weak transcription	Fetal Stomach	stomach
5	chr1:120193600-120202400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:120194000-120197800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:120194000-120198800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:120194000-120200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:120194600-120198600	Weak transcription	GM12878-XiMat	blood
10	chr1:120194800-120202000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:120195200-120197200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:120195600-120197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:120195600-120197800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:120195600-120198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:120195600-120198600	Enhancers	Fetal Lung	lung
16	chr1:120195800-120198200	Enhancers	NHDF-Ad	bronchial
17	chr1:120196000-120197000	Enhancers	Osteobl	bone
18	chr1:120196000-120197600	Enhancers	Adipose Nuclei	Adipose
19	chr1:120196000-120197600	Enhancers	Liver	Liver
20	chr1:120196000-120197600	Enhancers	NHLF	lung
21	chr1:120196000-120198000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:120196200-120197000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:120196200-120197200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:120196200-120198000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:120196200-120198200	Enhancers	Ovary	ovary
26	chr1:120196600-120197800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:120196800-120197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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