Variant report

Variant	rs2655996
Chromosome Location	chr14:77671804-77671805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77670339..77672949-chr14:77673873..77676008,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1078692	0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs11159251	0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs12881255	0.95[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12891631	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12896627	0.90[ASN][1000 genomes]
rs1467011	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1504521	0.83[ASN][1000 genomes]
rs17105457	0.86[ASN][1000 genomes]
rs1848402	0.82[ASN][1000 genomes]
rs1861420	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs207802	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs207804	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2655997	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2661828	0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4021320	0.81[JPT][hapmap]
rs4021325	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs70165	0.95[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs7140198	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148579	0.82[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7154702	0.91[ASN][1000 genomes]
rs8014837	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs8018250	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs888064	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2655996	ADCK1	cis	cerebellum	SCAN
rs2655996	YLPM1	cis	cerebellum	SCAN
rs2655996	VSX2	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77654600-77679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:77662000-77674400	Weak transcription	Brain Substantia Nigra	brain
4	chr14:77670400-77672000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:77670400-77672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:77670600-77672200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:77670800-77672600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:77670800-77672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:77670800-77675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:77671000-77679200	Weak transcription	Brain Germinal Matrix	brain
11	chr14:77671000-77685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:77671000-77686200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:77671200-77672000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr14:77671200-77674600	Weak transcription	Fetal Brain Male	brain
15	chr14:77671200-77678600	Weak transcription	Fetal Brain Female	brain
16	chr14:77671200-77679600	Weak transcription	Brain Angular Gyrus	brain
17	chr14:77671400-77672200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:77671400-77673600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:77671800-77672200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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