Variant report

Variant	rs1035295
Chromosome Location	chr7:127610033-127610034
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	chr7:127607741..127610973-chr7:127612877..127615637,3	K562	blood:
2	chr7:127602148..127604261-chr7:127608585..127610354,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10226394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10246505	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10250463	0.87[ASN][1000 genomes]
rs10265516	0.88[EUR][1000 genomes]
rs10280863	0.90[EUR][1000 genomes]
rs11773160	0.85[EUR][1000 genomes]
rs3757758	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3757764	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757768	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757769	0.80[GIH][hapmap]
rs3808080	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808081	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808083	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808089	0.81[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs4473953	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs57103099	0.88[EUR][1000 genomes]
rs6965698	0.86[EUR][1000 genomes]
rs6968751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6969353	0.86[EUR][1000 genomes]
rs6976887	0.80[EUR][1000 genomes]
rs7783102	0.81[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs7786786	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs9640847	0.82[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	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
6	nsv526032	chr7:127607474-127616804	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1035295	C7orf54	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
2	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
3	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
4	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:127581200-127615400	Weak transcription	Gastric	stomach
13	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
16	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
17	chr7:127585200-127616600	Weak transcription	A549	lung
18	chr7:127587400-127618000	Weak transcription	NHLF	lung
19	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
20	chr7:127591600-127613600	Weak transcription	Fetal Brain Male	brain
21	chr7:127594000-127615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:127594400-127616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:127595000-127613200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:127596000-127613000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:127598800-127614800	Weak transcription	Fetal Stomach	stomach
29	chr7:127599400-127615200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:127599800-127615800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:127599800-127616400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:127600000-127617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:127600400-127611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:127600400-127613000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:127600400-127615600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:127600400-127615600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:127600400-127616400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:127600400-127617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:127600400-127617800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:127600400-127618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:127600600-127612400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:127600600-127613800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:127600600-127615800	Weak transcription	Dnd41	blood
44	chr7:127600600-127617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:127600600-127617000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:127600600-127617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
48	chr7:127600800-127616000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:127601000-127616600	Weak transcription	Placenta	Placenta
50	chr7:127601000-127617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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