Variant report

Variant	rs68014968
Chromosome Location	chr1:228859781-228859782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12024625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030852	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751940	1.00[EUR][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	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2762224	chr1:228791784-228867656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228856000-228859800	Enhancers	Stomach Mucosa	stomach
2	chr1:228857800-228861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:228858200-228863400	Weak transcription	Pancreas	Pancrea
4	chr1:228858400-228863600	Weak transcription	Placenta	Placenta
5	chr1:228858800-228859800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:228858800-228859800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:228858800-228859800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:228858800-228860000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:228858800-228860000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:228858800-228860000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:228858800-228860000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:228859000-228859800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:228859000-228859800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:228859400-228859800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:228859400-228859800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:228859400-228860000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:228859400-228860000	Enhancers	HepG2	liver
18	chr1:228859600-228859800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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