Variant report

Variant	rs70165
Chromosome Location	chr14:77674784-77674785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77670339..77672949-chr14:77673873..77676008,3	MCF-7	breast:
2	chr14:77646721..77650226-chr14:77674762..77676702,3	MCF-7	breast:
3	chr14:77672224..77674882-chr14:77679223..77681930,2	K562	blood:
4	chr14:77673616..77675878-chr14:77786055..77788769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165548	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1078692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11159251	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];1.00[ASN][1000 genomes]
rs12881255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891631	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs12896627	0.97[ASN][1000 genomes]
rs1467011	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1504521	0.93[ASN][1000 genomes]
rs17105457	0.96[ASN][1000 genomes]
rs1848402	0.92[ASN][1000 genomes]
rs1861420	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.82[MKK][hapmap];0.97[ASN][1000 genomes]
rs207802	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs207804	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2540900	0.82[EUR][1000 genomes]
rs2655996	0.95[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2655997	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs2661828	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs4021325	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140198	0.87[ASN][1000 genomes]
rs7148579	0.88[CHB][hapmap];0.93[ASN][1000 genomes]
rs7154702	0.85[ASN][1000 genomes]
rs8014408	0.81[TSI][hapmap]
rs8014837	0.95[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs8018250	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.98[ASN][1000 genomes]

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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs70165	YLPM1	cis	cerebellum	SCAN
rs70165	DNAL1	cis	cerebellum	SCAN
rs70165	ADCK1	cis	cerebellum	SCAN
rs70165	PGF	cis	cerebellum	SCAN
rs70165	VASH1	cis	parietal	SCAN

Chromatin state (count:18 , 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	chr14:77670800-77675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:77671000-77679200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:77671000-77685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:77671000-77686200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:77671200-77678600	Weak transcription	Fetal Brain Female	brain
8	chr14:77671200-77679600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:77672200-77676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:77673600-77683400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:77674200-77675200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:77674400-77674800	Enhancers	Brain Substantia Nigra	brain
13	chr14:77674600-77674800	Enhancers	Fetal Brain Male	brain
14	chr14:77674600-77675000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:77674600-77675000	Enhancers	Brain Anterior Caudate	brain
16	chr14:77674600-77675400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:77674600-77675400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:77674600-77685400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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