Variant report

Variant	rs4236091
Chromosome Location	chr6:12952040-12952041
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	chr6:12944669..12946335-chr6:12951774..12953726,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11757634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11961007	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11963982	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13207062	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4349811	0.95[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap]
rs4380742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4711899	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4715016	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4715032	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4715043	0.96[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6458568	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6899754	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6900619	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6901563	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6916268	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6920970	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7341250	0.95[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs7739717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7743219	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7760857	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7762881	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7770277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7774403	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7774775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9296556	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296580	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9381636	0.81[GIH][hapmap]
rs9463337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9463363	0.93[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs9463364	0.95[GIH][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs9473113	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9473120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9473156	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9473188	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9473198	0.84[AMR][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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5202	chr6:12916229-12958517	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4236091	ERVFRDE1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12945600-12954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12945600-12957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:12950600-12957000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:12950800-12956800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:12951000-12952600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:12951000-12953200	Enhancers	Brain Germinal Matrix	brain
7	chr6:12951000-12953200	Enhancers	Colon Smooth Muscle	Colon
8	chr6:12951000-12953400	Enhancers	Fetal Stomach	stomach
9	chr6:12951000-12953800	Enhancers	Fetal Heart	heart
10	chr6:12951400-12952400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:12951400-12952600	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:12951600-12952600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:12951800-12952200	Enhancers	Brain Substantia Nigra	brain
14	chr6:12951800-12952600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:12951800-12952600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr6:12951800-12952800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:12951800-12953000	Enhancers	Brain Angular Gyrus	brain
18	chr6:12951800-12953000	Enhancers	Fetal Brain Female	brain
19	chr6:12951800-12953200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:12951800-12953200	Enhancers	Brain Hippocampus Middle	brain
21	chr6:12951800-12953400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:12951800-12953400	Enhancers	Brain Anterior Caudate	brain
23	chr6:12951800-12953400	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:12952000-12956800	Weak transcription	Right Ventricle	heart
25	chr6:12952000-12957400	Weak transcription	Left Ventricle	heart

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