Variant report

Variant	rs676480
Chromosome Location	chr1:57400575-57400576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:57400022-57400976	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:57400102-57400628	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57399714..57402182-chr1:57409125..57411013,2	K562	blood:

Variant related genes	Relation type
C8B	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs598772	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605648	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs624298	0.81[JPT][hapmap]
rs635833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs652553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669358	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706480	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57395600-57410000	Strong transcription	Liver	Liver
2	chr1:57397000-57401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:57397200-57404400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:57397400-57401200	Enhancers	NHDF-Ad	bronchial
5	chr1:57399800-57400800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:57399800-57400800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:57399800-57401000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:57399800-57401000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:57399800-57401000	Enhancers	Osteobl	bone
10	chr1:57400000-57400600	Enhancers	Adipose Nuclei	Adipose
11	chr1:57400000-57400800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:57400000-57401600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr1:57400200-57400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:57400200-57401000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:57400200-57401000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:57400400-57400600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:57400400-57400600	Enhancers	HepG2	liver
18	chr1:57400400-57400800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:57400400-57400800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:57400400-57401000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:57400400-57401200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:57400400-57404600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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