Variant report

Variant	rs17151567
Chromosome Location	chr7:127596746-127596747
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127590769..127592372-chr7:127595213..127596809,2	K562	blood:
2	chr7:127292014..127294108-chr7:127595338..127597484,2	MCF-7	breast:
3	chr7:127588157..127590624-chr7:127593868..127597829,4	K562	blood:
4	chr7:127588630..127590445-chr7:127595537..127597160,2	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1019578	1.00[EUR][1000 genomes]
rs10228031	1.00[EUR][1000 genomes]
rs1025075	1.00[EUR][1000 genomes]
rs10487503	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1440973	1.00[EUR][1000 genomes]
rs1468702	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151575	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17151650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151837	1.00[EUR][1000 genomes]
rs1833146	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1966517	1.00[EUR][1000 genomes]
rs2402873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	1.00[EUR][1000 genomes]
rs325439	1.00[EUR][1000 genomes]
rs325443	1.00[EUR][1000 genomes]
rs325448	1.00[EUR][1000 genomes]
rs325449	1.00[EUR][1000 genomes]
rs325450	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs3808056	0.82[LWK][hapmap]
rs4728078	1.00[EUR][1000 genomes]
rs4728082	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728084	1.00[GIH][hapmap]
rs4728085	1.00[GIH][hapmap]
rs4731379	1.00[EUR][1000 genomes]
rs4731382	1.00[EUR][1000 genomes]
rs4731383	1.00[EUR][1000 genomes]
rs4731384	1.00[EUR][1000 genomes]
rs4731390	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731391	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58395975	1.00[EUR][1000 genomes]
rs61743021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	1.00[EUR][1000 genomes]
rs6467149	1.00[EUR][1000 genomes]
rs6467154	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946590	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953530	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964714	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6972398	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972816	1.00[ASN][1000 genomes]
rs6975274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698409	1.00[EUR][1000 genomes]
rs712720	1.00[EUR][1000 genomes]
rs73721253	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804310	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap]

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:109 , 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	chr7:127570800-127599600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:127571800-127602800	Weak transcription	Aorta	Aorta
12	chr7:127576400-127607000	Weak transcription	Spleen	Spleen
13	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:127578800-127600200	Weak transcription	Stomach Mucosa	stomach
16	chr7:127581200-127615400	Weak transcription	Gastric	stomach
17	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:127583800-127599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:127584000-127600000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:127584200-127600000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:127584200-127607000	Weak transcription	Right Ventricle	heart
22	chr7:127584600-127607000	Weak transcription	Left Ventricle	heart
23	chr7:127584600-127607000	Weak transcription	Lung	lung
24	chr7:127584600-127609000	Weak transcription	Pancreas	Pancrea
25	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
27	chr7:127585000-127607000	Weak transcription	HSMMtube	muscle
28	chr7:127585200-127600000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:127585200-127600000	Weak transcription	HMEC	breast
30	chr7:127585200-127607200	Weak transcription	Psoas Muscle	Psoas
31	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
32	chr7:127585200-127616600	Weak transcription	A549	lung
33	chr7:127586600-127598000	Weak transcription	Fetal Intestine Small	intestine
34	chr7:127586800-127602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:127587200-127603200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:127587400-127618000	Weak transcription	NHLF	lung
37	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
38	chr7:127587600-127599600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:127587800-127598600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:127587800-127600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:127589000-127601600	Strong transcription	HepG2	liver
42	chr7:127590200-127604800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:127590800-127598400	Weak transcription	HSMM	muscle
44	chr7:127590800-127598600	Weak transcription	Placenta	Placenta
45	chr7:127590800-127598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:127590800-127607400	Weak transcription	Ovary	ovary
47	chr7:127591400-127600400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:127591600-127613600	Weak transcription	Fetal Brain Male	brain
49	chr7:127592000-127598600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:127592400-127602200	Strong transcription	Primary B cells from peripheral blood	blood

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