Variant report

Variant	rs11762497
Chromosome Location	chr7:111861043-111861044
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	chr7:111860442..111862172-chr7:111876161..111878818,2	K562	blood:
2	chr7:111854176..111856722-chr7:111858365..111862076,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10226284	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10238141	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247876	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259741	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10272126	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10272188	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953708	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953709	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10953710	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11760599	0.99[EUR][1000 genomes]
rs11761567	0.85[EUR][1000 genomes]
rs11761807	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763356	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11763768	0.83[ASN][1000 genomes]
rs11767115	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11768608	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768793	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768891	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769219	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11770767	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11773393	0.82[ASN][1000 genomes]
rs12666261	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666328	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12668065	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673830	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16873374	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159341	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17159389	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17159446	0.87[EUR][1000 genomes]
rs3807884	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823515	0.84[ASN][1000 genomes]
rs41281063	0.80[ASN][1000 genomes]
rs4730516	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730517	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730520	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55915049	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56299150	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56675883	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56969420	0.83[ASN][1000 genomes]
rs6949164	0.92[EUR][1000 genomes]
rs6955231	0.83[ASN][1000 genomes]
rs6955623	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7781245	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7792130	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7795336	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641480	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641481	0.89[EUR][1000 genomes];0.97[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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111847600-111863400	Weak transcription	Gastric	stomach
3	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
4	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:111848000-111861800	Weak transcription	Primary T cells from cord blood	blood
11	chr7:111848000-111866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:111848000-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:111848000-111866600	Weak transcription	Thymus	Thymus
14	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:111848200-111863200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:111848200-111863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:111851600-111863200	Weak transcription	Right Ventricle	heart
19	chr7:111852000-111864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:111852000-111864000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:111852000-111866200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:111853000-111873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:111853200-111865200	Weak transcription	Spleen	Spleen
24	chr7:111855200-111873200	Weak transcription	Esophagus	oesophagus
25	chr7:111855600-111862800	Weak transcription	Left Ventricle	heart
26	chr7:111855600-111863200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:111855600-111863200	Weak transcription	HepG2	liver
28	chr7:111855600-111869200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:111855800-111863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:111855800-111866600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:111855800-111869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:111856200-111861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:111856200-111862600	Weak transcription	Fetal Lung	lung
34	chr7:111856200-111863200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:111856200-111863600	Weak transcription	Fetal Heart	heart
36	chr7:111856200-111866400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:111856400-111861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:111856400-111866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:111856600-111863000	Weak transcription	Ovary	ovary
40	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:111857200-111863000	Weak transcription	Liver	Liver
42	chr7:111858000-111865200	Weak transcription	Aorta	Aorta
43	chr7:111858200-111865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:111859400-111863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:111860000-111863200	Weak transcription	Psoas Muscle	Psoas
46	chr7:111860600-111864800	Weak transcription	Dnd41	blood
47	chr7:111861000-111861400	ZNF genes & repeats	Lung	lung
48	chr7:111861000-111861600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:111861000-111861600	ZNF genes & repeats	Fetal Stomach	stomach

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