Variant report

Variant	rs6959203
Chromosome Location	chr7:12071001-12071002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10278803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058643	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2058644	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2058646	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2908733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2908735	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2966613	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2966614	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4236266	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4721021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979677	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780167	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2758103	chr7:11927239-12109419	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759510	chr7:11927239-12109419	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830906	chr7:12001764-12177869	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv606222	chr7:12023864-12084381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv967454	chr7:12069700-12081150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12067600-12072600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:12069600-12072200	Enhancers	NH-A	brain
3	chr7:12069600-12072600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:12069600-12072800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:12069600-12072800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:12069800-12072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:12070000-12071400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:12070000-12071600	Enhancers	NHLF	lung
9	chr7:12070000-12071800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:12070000-12071800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:12070200-12071200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:12070200-12071400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:12070200-12071400	Weak transcription	HSMM	muscle
14	chr7:12070400-12071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:12070400-12071400	Weak transcription	NHEK	skin
16	chr7:12070400-12077600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:12070800-12071600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:12071000-12071800	Weak transcription	ES-I3 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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