Variant report

Variant	rs6749560
Chromosome Location	chr2:212256192-212256193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10932374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12467225	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471583	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13431425	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1595064	0.87[JPT][hapmap]
rs1595066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[ASN][1000 genomes]
rs1595067	0.88[ASN][1000 genomes]
rs16845990	0.86[JPT][hapmap]
rs16846013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16846048	0.90[JPT][hapmap]
rs16846049	0.83[ASN][1000 genomes]
rs1836734	0.93[ASN][1000 genomes]
rs1836735	0.95[ASN][1000 genomes]
rs1971801	0.97[ASN][1000 genomes]
rs1971802	0.96[ASN][1000 genomes]
rs2887992	0.97[ASN][1000 genomes]
rs3791682	0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs3791687	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791691	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3791696	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs3791697	0.80[ASN][1000 genomes]
rs3791699	0.81[ASN][1000 genomes]
rs3791700	0.80[CHB][hapmap]
rs4673613	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4673614	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs60598560	0.88[ASN][1000 genomes]
rs62180134	0.96[ASN][1000 genomes]
rs62180135	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
5	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212245800-212256800	Weak transcription	Psoas Muscle	Psoas
2	chr2:212254800-212256400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:212255000-212256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:212255000-212256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:212255200-212256200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:212255200-212256200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:212255200-212256400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:212255200-212256400	Enhancers	Fetal Brain Female	brain
9	chr2:212255400-212256200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:212255400-212256200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:212255400-212256400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:212255400-212256400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:212255400-212256400	Enhancers	Brain Anterior Caudate	brain
14	chr2:212255400-212256600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:212255400-212257600	Enhancers	Fetal Brain Male	brain
16	chr2:212255400-212258600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:212255600-212256400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:212255600-212256800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:212255800-212256200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:212256000-212256200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr2:212256000-212256200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr2:212256000-212256200	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr2:212256000-212259600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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