Variant report

Variant	rs325443
Chromosome Location	chr7:127458342-127458343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127457487..127459483-chr7:127460285..127462225,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1019578	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228031	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229187	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487503	1.00[EUR][1000 genomes]
rs1073155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap]
rs1440973	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.85[ASN][1000 genomes]
rs1468702	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17133046	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151515	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151567	0.84[ASW][hapmap];1.00[CHD][hapmap];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]
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	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966517	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs2582716	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325438	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325439	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325448	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325450	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327509	1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[AMR][1000 genomes]
rs327514	0.83[AMR][1000 genomes]
rs327515	0.83[AMR][1000 genomes]
rs327517	0.83[AMR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728078	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728082	1.00[EUR][1000 genomes]
rs4731379	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731382	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731383	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731384	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731390	1.00[EUR][1000 genomes]
rs4731391	1.00[EUR][1000 genomes]
rs537972	0.83[AMR][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467142	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467147	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467149	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467150	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467151	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467154	0.84[ASW][hapmap];1.00[CHD][hapmap];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]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6952734	1.00[EUR][1000 genomes]
rs6953530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6972398	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6975274	1.00[EUR][1000 genomes]
rs6976145	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs698409	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712708	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs712709	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712710	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712711	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712713	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712717	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721253	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721258	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7458839	0.89[ASN][1000 genomes]
rs7791000	0.84[ASW][hapmap];1.00[CHD][hapmap];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]
rs7794303	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794328	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806161	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806164	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806165	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806167	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806170	0.83[AMR][1000 genomes]
rs806171	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap];0.83[AMR][1000 genomes]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs806182	0.86[AMR][1000 genomes]
rs809333	0.83[AMR][1000 genomes];0.83[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	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:127440200-127460800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:127441200-127460000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:127443200-127460200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:127448000-127459600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
8	chr7:127448600-127459600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:127449200-127459600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:127449200-127460000	Weak transcription	NH-A	brain
12	chr7:127449200-127460400	Weak transcription	Placenta	Placenta
13	chr7:127449400-127458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:127449400-127460000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:127449600-127459400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:127449600-127459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:127449600-127459800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:127449600-127460200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:127449600-127460800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:127449600-127461200	Weak transcription	Right Atrium	heart
21	chr7:127449600-127472600	Weak transcription	Lung	lung
22	chr7:127449800-127459600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:127449800-127459800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:127449800-127460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:127449800-127460000	Weak transcription	Fetal Intestine Large	intestine
26	chr7:127449800-127460000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:127449800-127460000	Weak transcription	Small Intestine	intestine
28	chr7:127449800-127460200	Weak transcription	Fetal Stomach	stomach
29	chr7:127449800-127460200	Weak transcription	NHEK	skin
30	chr7:127449800-127460800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:127449800-127460800	Weak transcription	Fetal Thymus	thymus
32	chr7:127449800-127469200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:127450000-127459600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:127450000-127459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:127450000-127460800	Weak transcription	Liver	Liver
36	chr7:127450200-127458600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:127450400-127459600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:127450400-127460200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:127450400-127460200	Weak transcription	HMEC	breast
40	chr7:127450600-127460000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:127450800-127471200	Weak transcription	Dnd41	blood
42	chr7:127451200-127460000	Weak transcription	Primary B cells from cord blood	blood
43	chr7:127452600-127460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:127452800-127460000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:127452800-127460400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:127452800-127462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:127453000-127459600	Weak transcription	Psoas Muscle	Psoas
48	chr7:127453200-127459800	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:127453400-127460600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:127453600-127459000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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