Variant report

Variant	rs7805630
Chromosome Location	chr7:107152490-107152491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1015410	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1018869	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1024401	0.95[EUR][1000 genomes]
rs10244871	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10245210	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10267978	0.91[EUR][1000 genomes]
rs10276321	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953538	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532304	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468335	0.89[EUR][1000 genomes]
rs1858889	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2250410	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2253856	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283042	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2520243	0.82[AFR][1000 genomes]
rs2520247	0.80[AFR][1000 genomes]
rs2520257	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520258	0.94[EUR][1000 genomes]
rs2520259	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520262	0.90[EUR][1000 genomes]
rs2520266	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520270	0.91[EUR][1000 genomes]
rs2520272	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520276	0.85[EUR][1000 genomes]
rs2520278	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520279	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712186	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712188	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2712192	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712194	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712203	0.94[EUR][1000 genomes]
rs2712213	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712217	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712223	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712225	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28410326	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3094383	0.80[AFR][1000 genomes]
rs3779496	0.82[EUR][1000 genomes]
rs4588787	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4610672	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4727682	0.96[EUR][1000 genomes]
rs60490203	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62483724	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466172	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466174	0.92[EUR][1000 genomes]
rs6945488	0.92[EUR][1000 genomes]
rs6962433	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6968804	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6979121	0.83[EUR][1000 genomes]
rs7786186	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7787113	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7790534	0.82[AFR][1000 genomes]
rs7791955	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107123200-107155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr7:107123600-107166200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:107126800-107184800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:107127400-107175400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:107130800-107163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107131400-107179800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:107131800-107175000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:107136000-107165800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:107137000-107166200	Weak transcription	K562	blood
10	chr7:107141600-107166000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:107142000-107167000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:107144400-107162000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:107144400-107166400	Weak transcription	NH-A	brain
14	chr7:107144800-107185000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:107146000-107185000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:107146400-107183800	Weak transcription	Ovary	ovary
17	chr7:107146400-107183800	Weak transcription	Thymus	Thymus
18	chr7:107146400-107184000	Weak transcription	Aorta	Aorta
19	chr7:107146600-107163800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:107146600-107164400	Weak transcription	Dnd41	blood
21	chr7:107146600-107169000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:107146800-107162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:107147000-107169800	Weak transcription	Gastric	stomach
24	chr7:107147000-107178200	Weak transcription	Liver	Liver
25	chr7:107147200-107162200	Weak transcription	Primary T cells from cord blood	blood
26	chr7:107147400-107168600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:107147400-107169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:107147600-107162200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:107147600-107163400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:107147600-107163400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:107147600-107165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:107147600-107166600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:107147600-107168600	Weak transcription	HMEC	breast
34	chr7:107147600-107169600	Weak transcription	Pancreas	Pancrea
35	chr7:107147600-107178400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:107147600-107183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:107147800-107156600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:107147800-107164800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:107147800-107169000	Weak transcription	HUVEC	blood vessel
40	chr7:107148200-107155200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:107148400-107166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:107149400-107183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:107149600-107160800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:107149600-107162000	Weak transcription	Primary B cells from cord blood	blood
45	chr7:107149600-107163800	Weak transcription	Fetal Intestine Small	intestine
46	chr7:107149600-107178800	Weak transcription	Fetal Stomach	stomach
47	chr7:107149800-107158400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:107149800-107162000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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