Variant report

Variant	rs1362267
Chromosome Location	chr7:127601254-127601255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127599109..127601690-chr7:127601773..127604580,2	K562	blood:
2	chr7:127597262..127598889-chr7:127600616..127602859,2	K562	blood:
3	chr7:127599793..127602265-chr7:127606628..127609403,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10215276	0.84[EUR][1000 genomes]
rs10255861	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10260037	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1075206	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1193334	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1193337	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1362897	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419969	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17676908	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17676986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718395	0.80[AMR][1000 genomes]
rs17733988	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1833147	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3757757	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757767	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808057	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808084	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808087	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824000	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6948493	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963614	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs720300	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73238074	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759056	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7786041	0.82[EUR][1000 genomes]
rs887745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs917831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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

No data

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	chr7:127571800-127602800	Weak transcription	Aorta	Aorta
11	chr7:127576400-127607000	Weak transcription	Spleen	Spleen
12	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:127581200-127615400	Weak transcription	Gastric	stomach
15	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:127584200-127607000	Weak transcription	Right Ventricle	heart
17	chr7:127584600-127607000	Weak transcription	Left Ventricle	heart
18	chr7:127584600-127607000	Weak transcription	Lung	lung
19	chr7:127584600-127609000	Weak transcription	Pancreas	Pancrea
20	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
22	chr7:127585000-127607000	Weak transcription	HSMMtube	muscle
23	chr7:127585200-127607200	Weak transcription	Psoas Muscle	Psoas
24	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
25	chr7:127585200-127616600	Weak transcription	A549	lung
26	chr7:127586800-127602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:127587200-127603200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:127587400-127618000	Weak transcription	NHLF	lung
29	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
30	chr7:127589000-127601600	Strong transcription	HepG2	liver
31	chr7:127590200-127604800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:127590800-127607400	Weak transcription	Ovary	ovary
33	chr7:127591600-127613600	Weak transcription	Fetal Brain Male	brain
34	chr7:127592400-127602200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:127592400-127603400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:127593600-127603000	Strong transcription	Liver	Liver
37	chr7:127593800-127603000	Strong transcription	Primary T cells from cord blood	blood
38	chr7:127594000-127615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:127594200-127608000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:127594400-127602800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:127594400-127616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:127594600-127602600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:127594600-127608600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:127594600-127608800	Weak transcription	Fetal Kidney	kidney
47	chr7:127594600-127608800	Weak transcription	NH-A	brain
48	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:127594800-127609800	Weak transcription	HUVEC	blood vessel
50	chr7:127595000-127613200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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