Variant report

Variant	rs2189849
Chromosome Location	chr7:83691571-83691572
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10259999	0.80[EUR][1000 genomes]
rs10274042	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13310704	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2189850	0.87[AMR][1000 genomes]
rs2527032	0.81[MEX][hapmap]
rs2527039	0.90[MEX][hapmap]
rs2527040	0.84[MKK][hapmap]
rs2691702	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2906193	0.83[AMR][1000 genomes]
rs4355720	0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap]
rs4481512	0.80[AMR][1000 genomes]
rs9690948	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:83685800-83691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:83685800-83691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:83686000-83691600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83689000-83691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:83689600-83691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:83689600-83697800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:83689800-83691800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:83689800-83714400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:83690400-83691600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:83690400-83692000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:83690600-83691600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:83690600-83714600	Weak transcription	NHDF-Ad	bronchial
14	chr7:83690800-83691800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:83690800-83702800	Weak transcription	NHLF	lung
16	chr7:83691200-83691600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:83691400-83703000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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

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