Variant report

Variant	rs422647
Chromosome Location	chr1:120195840-120195841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
2	chr1:120192852..120195358-chr1:120195799..120197407,2	K562	blood:

Variant related genes	Relation type
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs347903	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372814	0.93[EUR][1000 genomes]
rs377033	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496886	0.95[ASN][1000 genomes]
rs838990	0.84[EUR][1000 genomes];0.96[ASN][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:26 , 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	chr1:120191800-120196000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:120191800-120196200	Weak transcription	Ovary	ovary
4	chr1:120191800-120198600	Weak transcription	Placenta	Placenta
5	chr1:120192000-120196000	Weak transcription	Liver	Liver
6	chr1:120192000-120196000	Weak transcription	NHLF	lung
7	chr1:120192000-120196200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:120192000-120196800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:120192000-120198000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:120192000-120198000	Weak transcription	Fetal Stomach	stomach
11	chr1:120193600-120202400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:120194000-120196000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:120194000-120197800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:120194000-120198800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:120194000-120200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:120194600-120198600	Weak transcription	GM12878-XiMat	blood
17	chr1:120194800-120202000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:120195000-120196200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:120195200-120197200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:120195600-120197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:120195600-120197800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:120195600-120198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:120195600-120198600	Enhancers	Fetal Lung	lung
24	chr1:120195800-120196000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:120195800-120196200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:120195800-120198200	Enhancers	NHDF-Ad	bronchial

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