Variant report

Variant	rs4989895
Chromosome Location	chr14:40592380-40592381
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11620657	0.90[ASN][1000 genomes]
rs12432491	0.89[ASN][1000 genomes]
rs12587626	0.90[ASN][1000 genomes]
rs12897273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950235	0.89[ASN][1000 genomes]
rs2012059	0.90[ASN][1000 genomes]
rs55950611	0.90[ASN][1000 genomes]
rs56118548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56157439	0.90[ASN][1000 genomes]
rs67716904	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7161466	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685067	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530658	chr14:40214958-40734070	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2751272	chr14:40216880-40913230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2751275	chr14:40437675-40608324	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1045200	chr14:40449227-40614093	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv542049	chr14:40449227-40614093	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv521372	chr14:40467749-40592380	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv456213	chr14:40513267-40731102	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv564423	chr14:40513267-40731102	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1037101	chr14:40518841-40606386	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1051963	chr14:40518841-40616907	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv430994	chr14:40518841-40624468	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2761827	chr14:40559596-40816236	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3356038	chr14:40583699-40592433	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv1795712	chr14:40588541-40617594	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1799213	chr14:40588541-40617594	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1838057	chr14:40588541-40617594	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1842691	chr14:40588541-40617594	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1851592	chr14:40588541-40617594	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1800640	chr14:40590110-40608928	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40589000-40593600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:40589800-40592400	Weak transcription	GM12878-XiMat	blood
3	chr14:40591000-40593600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:40591200-40594000	Enhancers	Fetal Kidney	kidney
5	chr14:40591400-40593400	Enhancers	Brain Germinal Matrix	brain
6	chr14:40591800-40593800	Enhancers	Colon Smooth Muscle	Colon
7	chr14:40592000-40592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:40592200-40592600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:40592200-40592600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:40592200-40592600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:40592200-40592600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:40592200-40592600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:40592200-40592800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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