Variant report

Variant	rs62312230
Chromosome Location	chr4:93385856-93385857
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:93384358..93386319-chr4:93419609..93421147,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12640559	0.86[ASN][1000 genomes]
rs12641104	0.86[ASN][1000 genomes]
rs12645728	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647190	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647218	0.86[ASN][1000 genomes]
rs12647297	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647443	0.86[ASN][1000 genomes]
rs12649496	0.86[ASN][1000 genomes]
rs17019374	0.93[EUR][1000 genomes]
rs17019377	0.93[EUR][1000 genomes]
rs4482730	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522831	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4597787	0.93[EUR][1000 genomes]
rs4629410	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62310663	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310664	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310673	0.92[EUR][1000 genomes]
rs62310674	0.93[EUR][1000 genomes]
rs62310675	0.92[EUR][1000 genomes]
rs62311041	0.86[ASN][1000 genomes]
rs62311043	0.86[ASN][1000 genomes]
rs62312194	0.86[ASN][1000 genomes]
rs62312197	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62312200	0.90[ASN][1000 genomes]
rs62312208	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62312210	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62312211	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62312212	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312213	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312215	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312216	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312217	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312218	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312220	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312221	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312224	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62312226	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661913	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661916	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661921	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009960	chr4:92747531-93389054	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv948712	chr4:93007985-93740409	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv594868	chr4:93190198-93391251	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000700	chr4:93270083-93425831	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv537182	chr4:93270083-93425831	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv997925	chr4:93270083-93464386	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv537183	chr4:93270083-93464386	Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1005500	chr4:93359923-93590452	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv537184	chr4:93359923-93590452	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1001759	chr4:93368860-93414503	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv879605	chr4:93376231-93740409	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93376800-93386400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:93376800-93396600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:93377000-93403400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:93377600-93386400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:93383000-93386400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:93384800-93392400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:93385400-93388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:93385600-93387200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:93385600-93388600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:93385600-93393600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:93385800-93386200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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