Variant report

Variant	rs6689514
Chromosome Location	chr1:171400840-171400841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10798394	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798395	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912911	0.84[EUR][1000 genomes]
rs11579231	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12072674	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12121150	0.92[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126686	0.94[ASN][1000 genomes]
rs12402699	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12402708	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2207189	0.83[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72637249	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv470745	chr1:171381746-171409514	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv465628	chr1:171381746-171409515	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548189	chr1:171381746-171409515	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171392800-171402800	Weak transcription	NHLF	lung
2	chr1:171397800-171401400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:171398800-171408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:171400200-171401000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:171400200-171401000	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:171400200-171401400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:171400200-171401600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:171400200-171401800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:171400400-171401000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:171400400-171401200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:171400400-171402000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:171400400-171402200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:171400600-171401000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:171400600-171401200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:171400600-171401600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:171400800-171401200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:171400800-171401200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:171400800-171401200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:171400800-171401800	Weak transcription	Fetal Muscle Leg	muscle

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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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