Variant report

Variant	rs3808081
Chromosome Location	chr7:127567900-127567901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127560049..127563219-chr7:127566241..127571212,6	K562	blood:
2	chr7:127560028..127563725-chr7:127565459..127568512,4	K562	blood:
3	chr7:127565086..127568468-chr7:127575719..127577641,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10226394	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10246505	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265516	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10280863	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035295	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773160	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757768	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808080	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808083	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808089	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4473953	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57103099	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6965698	0.86[EUR][1000 genomes]
rs6968751	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6969353	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6976887	0.80[EUR][1000 genomes]
rs7783102	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7786786	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3808081	C7orf54	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
4	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
7	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
8	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
9	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:127546400-127569200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:127546400-127569200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:127546400-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:127546400-127569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:127546400-127569200	Weak transcription	Placenta	Placenta
16	chr7:127546400-127569200	Weak transcription	Dnd41	blood
17	chr7:127546800-127569000	Weak transcription	Fetal Thymus	thymus
18	chr7:127546800-127569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:127546800-127569200	Weak transcription	Aorta	Aorta
20	chr7:127546800-127569200	Weak transcription	Lung	lung
21	chr7:127547800-127569200	Weak transcription	Primary T cells from cord blood	blood
22	chr7:127547800-127569600	Weak transcription	A549	lung
23	chr7:127550000-127568000	Weak transcription	NHEK	skin
24	chr7:127551200-127569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:127551400-127569200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:127551400-127569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:127551600-127569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:127552400-127569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:127553400-127569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:127553800-127569400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:127554800-127569000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:127555200-127569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:127555400-127569200	Weak transcription	HepG2	liver
34	chr7:127557200-127569200	Weak transcription	Psoas Muscle	Psoas
35	chr7:127558000-127569600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:127559600-127568800	Weak transcription	HSMM	muscle
37	chr7:127561200-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:127561800-127569600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:127562200-127569400	Weak transcription	Esophagus	oesophagus
40	chr7:127562200-127589800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:127562600-127569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:127562800-127569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:127563200-127569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:127563400-127569200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:127564400-127569200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:127565600-127569400	Weak transcription	HUVEC	blood vessel
47	chr7:127566200-127569200	Weak transcription	HMEC	breast
48	chr7:127566400-127569200	Enhancers	Primary B cells from peripheral blood	blood
49	chr7:127566400-127569200	Weak transcription	Gastric	stomach
50	chr7:127566800-127568200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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