Variant report

Variant	rs17151653
Chromosome Location	chr7:127645852-127645853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127645172..127647796-chr7:127651535..127653473,2	MCF-7	breast:
2	chr7:127645347..127648256-chr7:127660834..127662429,2	MCF-7	breast:
3	chr7:127641392..127644240-chr7:127644779..127647605,2	MCF-7	breast:
4	chr7:127645845..127647597-chr7:127674557..127676865,2	K562	blood:
5	chr7:127643116..127647921-chr7:127647967..127652468,4	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10487499	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533765	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534918	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537331	0.85[GIH][hapmap];0.93[MEX][hapmap]
rs12540357	1.00[ASN][1000 genomes]
rs12706816	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706820	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	1.00[ASN][1000 genomes]
rs1348103	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.84[EUR][1000 genomes]
rs17151466	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17151668	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	0.89[ASW][hapmap];0.83[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17151739	0.85[GIH][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes]
rs17676654	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026100	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	1.00[ASN][1000 genomes]
rs35154268	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464647	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs55660321	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[LWK][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959487	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73232968	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238088	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73239704	0.86[AMR][1000 genomes]
rs741094	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.83[EUR][1000 genomes]
rs7785596	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	0.89[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs7810024	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
5	chr7:127634200-127657800	Weak transcription	NH-A	brain
6	chr7:127634600-127646000	Weak transcription	Thymus	Thymus
7	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:127636000-127646000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
11	chr7:127636200-127646000	Weak transcription	Fetal Brain Male	brain
12	chr7:127636600-127650400	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:127636600-127650600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:127636800-127652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:127637400-127650200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:127637600-127650600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:127637600-127651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:127637600-127652400	Weak transcription	A549	lung
20	chr7:127637800-127646400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:127637800-127650400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:127637800-127650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:127637800-127650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:127637800-127652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:127638000-127653000	Weak transcription	NHLF	lung
26	chr7:127638200-127652000	Weak transcription	HMEC	breast
27	chr7:127639200-127646200	Weak transcription	Fetal Lung	lung
28	chr7:127640800-127647400	Enhancers	Brain Substantia Nigra	brain
29	chr7:127641200-127648600	Weak transcription	Psoas Muscle	Psoas
30	chr7:127641200-127652400	Weak transcription	Esophagus	oesophagus
31	chr7:127641200-127657000	Weak transcription	Stomach Mucosa	stomach
32	chr7:127641400-127647400	Enhancers	Liver	Liver
33	chr7:127641400-127653800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:127641400-127657800	Weak transcription	Osteobl	bone
35	chr7:127641600-127647800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:127641600-127648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:127641600-127649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:127641600-127650000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:127641600-127652400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:127641600-127652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:127641600-127652600	Weak transcription	HSMM	muscle
42	chr7:127641600-127654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:127641600-127657800	Weak transcription	HSMMtube	muscle
44	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
45	chr7:127642000-127646200	Enhancers	Brain Hippocampus Middle	brain
46	chr7:127642200-127647600	Enhancers	Pancreas	Pancrea
47	chr7:127642400-127646000	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:127642400-127646000	Weak transcription	Ovary	ovary
49	chr7:127642800-127646000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:127642800-127646600	Weak transcription	NHEK	skin

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