Variant report

Variant	rs17712342
Chromosome Location	chr6:70817562-70817563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1200564	0.85[EUR][1000 genomes]
rs1200565	0.85[EUR][1000 genomes]
rs1200566	0.85[EUR][1000 genomes]
rs1200567	0.82[EUR][1000 genomes]
rs16868641	0.88[EUR][1000 genomes]
rs17690121	0.88[EUR][1000 genomes]
rs17747228	0.88[EUR][1000 genomes]
rs45486305	0.88[EUR][1000 genomes]
rs476026	0.88[EUR][1000 genomes]
rs476740	0.88[EUR][1000 genomes]
rs487928	0.85[EUR][1000 genomes]
rs540654	0.85[EUR][1000 genomes]
rs558856	0.88[EUR][1000 genomes]
rs577010	0.88[EUR][1000 genomes]
rs607716	0.88[EUR][1000 genomes]
rs661521	0.85[EUR][1000 genomes]
rs737331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73746881	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1026836	chr6:70727747-70849014	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3442891	chr6:70817281-70817602	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70810000-70817800	Weak transcription	Fetal Stomach	stomach
2	chr6:70814600-70818000	Weak transcription	Primary B cells from cord blood	blood
3	chr6:70815200-70821200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:70817000-70817800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:70817200-70817800	Enhancers	Fetal Lung	lung
6	chr6:70817200-70818400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:70817400-70817800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:70817400-70818200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:70817400-70818200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:70817400-70818200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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