Variant report

Variant	rs1317430
Chromosome Location	chr2:11049632-11049633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3732105	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][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	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv873662	chr2:11035430-11061156	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv521177	chr2:11040146-11066699	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11044800-11049800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:11044800-11050200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:11045000-11051200	Weak transcription	Right Ventricle	heart
4	chr2:11046200-11049800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:11049000-11050400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:11049000-11051400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:11049200-11051400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:11049400-11049800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:11049400-11050400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:11049400-11050400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:11049400-11050600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:11049400-11051000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:11049600-11050600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:11049600-11050600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:11049600-11050800	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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