Variant report

Variant	rs62171470
Chromosome Location	chr2:206143765-206143766
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:206139930..206141638-chr2:206143266..206144915,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11686569	0.82[EUR][1000 genomes]
rs13424800	0.89[EUR][1000 genomes]
rs13428349	0.84[EUR][1000 genomes]
rs17197657	0.86[EUR][1000 genomes]
rs17198316	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17251025	0.89[EUR][1000 genomes]
rs17251602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62171469	1.00[EUR][1000 genomes]
rs62171471	0.82[EUR][1000 genomes]
rs62171474	0.82[EUR][1000 genomes]
rs62171476	0.82[EUR][1000 genomes]
rs62171478	0.82[EUR][1000 genomes]
rs62171479	0.82[EUR][1000 genomes]
rs62171481	0.82[EUR][1000 genomes]
rs62172745	0.86[EUR][1000 genomes]
rs9288362	0.84[EUR][1000 genomes]
rs9288363	0.84[EUR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206108400-206145200	Weak transcription	HSMM	muscle
3	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
4	chr2:206132800-206144200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:206138400-206144200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:206138800-206144200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:206138800-206162200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:206141400-206144400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:206141400-206147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:206141600-206144000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:206141600-206144600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:206141600-206148400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:206141800-206144000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:206141800-206144400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:206141800-206146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:206141800-206146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:206141800-206148000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:206141800-206148200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:206142000-206146000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:206142000-206148600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:206142800-206144000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:206143000-206148200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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