Variant report

Variant	rs17133046
Chromosome Location	chr7:127522960-127522961
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	chr7:127518982..127521660-chr7:127521866..127523548,2	K562	blood:
2	chr7:127518982..127521660-chr7:127521866..127524174,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1019578	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10228031	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229187	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1025075	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487503	1.00[EUR][1000 genomes]
rs1073155	1.00[JPT][hapmap]
rs12536253	1.00[JPT][hapmap]
rs1440973	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1468702	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17151515	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17151567	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17151575	1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap]
rs17151650	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1833146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1966517	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs325438	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325439	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325443	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325448	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325449	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3757772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3808056	0.84[LWK][hapmap]
rs4728078	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4728082	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4731379	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731382	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731383	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731384	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731390	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4731391	1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467142	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6467146	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467147	0.93[AMR][1000 genomes]
rs6467149	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467150	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6467151	0.93[AMR][1000 genomes]
rs6467154	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952123	1.00[EUR][1000 genomes]
rs6952734	1.00[EUR][1000 genomes]
rs6953530	1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6972398	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6975274	1.00[EUR][1000 genomes]
rs6976145	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6979918	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs698407	0.81[AFR][1000 genomes]
rs698409	1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs712706	0.93[AMR][1000 genomes]
rs712708	0.81[AFR][1000 genomes]
rs712709	0.81[AFR][1000 genomes]
rs712710	1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs712711	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs712713	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs712714	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs712717	1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs712720	1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721253	1.00[EUR][1000 genomes]
rs73721258	1.00[EUR][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7794303	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7794328	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]
rs7809182	1.00[JPT][hapmap]
rs806126	1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs806161	0.81[AFR][1000 genomes]
rs806163	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs806164	0.87[AMR][1000 genomes]
rs806165	0.87[AMR][1000 genomes]
rs806173	0.93[AMR][1000 genomes]
rs806182	0.81[AMR][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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:127491400-127527800	Weak transcription	Liver	Liver
3	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:127498800-127524600	Weak transcription	Gastric	stomach
5	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
6	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:127500400-127527800	Weak transcription	Dnd41	blood
9	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
12	chr7:127503000-127524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:127505600-127525200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:127505600-127528400	Weak transcription	Hela-S3	cervix
16	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
17	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:127507000-127525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:127507400-127524600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:127512200-127525000	Weak transcription	Fetal Heart	heart
21	chr7:127512600-127528000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:127514400-127524600	Weak transcription	HepG2	liver
23	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:127515400-127527800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:127516000-127527000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:127516000-127527800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:127516000-127528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:127516200-127525000	Weak transcription	Primary T cells from cord blood	blood
30	chr7:127516400-127525400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:127516400-127528600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:127516600-127524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:127516600-127524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:127516600-127524400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:127516600-127524400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:127516600-127524400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:127516600-127524400	Weak transcription	GM12878-XiMat	blood
39	chr7:127516800-127524400	Weak transcription	NHEK	skin
40	chr7:127516800-127525000	Weak transcription	HMEC	breast
41	chr7:127517000-127523200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:127517200-127525000	Weak transcription	NHLF	lung
43	chr7:127517600-127524800	Weak transcription	Primary B cells from cord blood	blood
44	chr7:127518400-127525600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:127518400-127527000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:127518400-127528200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:127518600-127524400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:127518600-127525200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:127518600-127528000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:127518800-127525000	Weak transcription	HUVEC	blood vessel

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