Variant report

Variant	rs6921616
Chromosome Location	chr6:13116222-13116223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13115809..13117835-chr6:13120460..13122276,2	K562	blood:
2	chr6:13097814..13100290-chr6:13115939..13117682,2	MCF-7	breast:
3	chr6:13113966..13116018-chr6:13116145..13117861,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11961352	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1223520	1.00[CHB][hapmap]
rs1223521	1.00[CHB][hapmap]
rs1223529	1.00[CHB][hapmap]
rs13200673	0.83[ASN][1000 genomes]
rs17375327	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1937766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1937768	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35902472	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711910	1.00[JPT][hapmap]
rs6458616	0.92[JPT][hapmap]
rs6458639	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458641	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7738252	0.92[JPT][hapmap]
rs7740162	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7744129	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7769033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9463408	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6921616	ERVFRDE1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13113000-13116400	Enhancers	Fetal Heart	heart
2	chr6:13113400-13117000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:13113400-13119600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:13113400-13120000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:13113600-13119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:13113800-13120200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:13114000-13117400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:13114400-13116600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:13114400-13119800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:13114400-13123400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:13114600-13117400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:13114600-13117400	Enhancers	Brain Anterior Caudate	brain
13	chr6:13114600-13119400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:13114600-13120400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:13114800-13116400	Enhancers	Fetal Stomach	stomach
16	chr6:13114800-13119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:13115000-13117200	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:13115000-13120600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:13115000-13120600	Weak transcription	Right Atrium	heart
20	chr6:13115000-13135400	Weak transcription	Lung	lung
21	chr6:13115600-13116400	Enhancers	Left Ventricle	heart
22	chr6:13115800-13117000	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:13115800-13119600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:13116000-13120800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:13116200-13116400	Weak transcription	Right Ventricle	heart
26	chr6:13116200-13116600	Enhancers	Primary B cells from cord blood	blood
27	chr6:13116200-13121000	Weak transcription	Aorta	Aorta

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