Variant report

Variant	rs6091808
Chromosome Location	chr20:52644514-52644515
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	chr20:52643673..52645639-chr20:52687051..52688962,2	MCF-7	breast:
2	chr17:56707799..56710607-chr20:52642228..52644941,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000064787	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11905945	0.90[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1381983	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1381984	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1557853	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072128	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107327	0.90[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2189502	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214530	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238701	0.82[ASN][1000 genomes]
rs2276487	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276488	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276489	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276491	0.81[YRI][hapmap];0.80[EUR][1000 genomes]
rs2299699	0.87[JPT][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]
rs2299701	0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299702	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299704	0.86[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs2299705	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299707	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299712	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299718	0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs34973146	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35883829	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6091807	0.82[AFR][1000 genomes]
rs6091811	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6091812	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6097745	0.81[CEU][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs6123344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6123345	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6127058	0.81[EUR][1000 genomes]
rs6127060	0.81[YRI][hapmap];0.81[EUR][1000 genomes]
rs6127061	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6127062	0.88[CHD][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6127063	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6127065	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6127066	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6127068	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6127072	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs6127073	0.82[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs67082409	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71323984	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73133436	0.80[EUR][1000 genomes]
rs732344	0.89[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs765348	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
3	esv2763673	chr20:52637074-52668126	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv3419	chr20:52637581-52672115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	nsv1064465	chr20:52643155-52658639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv437187	chr20:52644514-52660120	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6091808	LOC284751	cis	cerebellum	SCAN
rs6091808	C20orf106	cis	parietal	SCAN
rs6091808	CASS4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52634800-52645400	Weak transcription	Fetal Lung	lung
3	chr20:52641400-52646000	Active TSS	Brain Anterior Caudate	brain
4	chr20:52641600-52646000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr20:52641600-52676400	Weak transcription	Stomach Mucosa	stomach
6	chr20:52641800-52644600	Weak transcription	Fetal Kidney	kidney
7	chr20:52641800-52646000	Active TSS	Brain Substantia Nigra	brain
8	chr20:52642200-52645400	Weak transcription	Brain Germinal Matrix	brain
9	chr20:52642200-52645600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr20:52642200-52645800	Active TSS	Brain Angular Gyrus	brain
11	chr20:52642400-52644800	Weak transcription	Fetal Brain Female	brain
12	chr20:52642400-52646000	Active TSS	Brain Hippocampus Middle	brain
13	chr20:52642600-52645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:52642600-52645800	Active TSS	Brain Cingulate Gyrus	brain
15	chr20:52643200-52645400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:52643200-52645600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:52643400-52645200	Weak transcription	NHDF-Ad	bronchial
18	chr20:52643600-52645000	Active TSS	HSMMtube	muscle
19	chr20:52643800-52645000	Weak transcription	Fetal Brain Male	brain
20	chr20:52643800-52646000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:52644000-52644600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr20:52644200-52644800	Weak transcription	Fetal Stomach	stomach
23	chr20:52644400-52644800	Enhancers	Rectal Mucosa Donor 29	rectum

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