Variant report

Variant	rs17013999
Chromosome Location	chr2:77556194-77556195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10176578	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10184714	1.00[JPT][hapmap]
rs10191311	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10210488	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12468242	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13396517	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13404667	1.00[JPT][hapmap]
rs13411599	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13422634	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13424941	1.00[JPT][hapmap]
rs13430775	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1439716	1.00[CEU][hapmap]
rs1837425	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1866563	1.00[CEU][hapmap]
rs2204856	1.00[CEU][hapmap]
rs3910598	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6547138	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6721503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6722240	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6729161	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6736374	1.00[JPT][hapmap]
rs7558042	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7562813	1.00[JPT][hapmap]
rs7587908	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9973349	0.82[CHB][hapmap];1.00[JPT][hapmap]

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	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874333	chr2:77315349-77798886	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv518504	chr2:77326832-78172786	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1004938	chr2:77347740-78186543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv535783	chr2:77347740-78186543	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv529904	chr2:77347741-78186542	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv997329	chr2:77354560-78176285	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv874336	chr2:77515995-77568716	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv834267	chr2:77534499-77708336	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv458307	chr2:77538592-77589901	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv582254	chr2:77538592-77589901	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77553800-77556200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:77554000-77556200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:77554000-77556400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:77554000-77556400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:77554400-77556400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:77554600-77556200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:77555000-77556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:77555000-77556200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:77555200-77556200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:77555400-77556200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:77555600-77556400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:77555800-77556200	Enhancers	Fetal Brain Male	brain
13	chr2:77556000-77557000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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