Variant report

Variant	rs7617775
Chromosome Location	chr3:69146189-69146190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69140755..69142377-chr3:69144139..69146957,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1051901	0.86[EUR][1000 genomes]
rs1131960	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12054346	0.86[EUR][1000 genomes]
rs17005366	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3772980	0.86[EUR][1000 genomes]
rs3772983	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796214	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3821564	0.86[EUR][1000 genomes]
rs56152276	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56194306	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56280964	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57159802	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58277851	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59090383	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60474520	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61086164	0.98[ASN][1000 genomes]
rs72924853	0.86[EUR][1000 genomes]
rs72924854	0.86[EUR][1000 genomes]
rs73835715	0.94[ASN][1000 genomes]
rs73835716	0.98[ASN][1000 genomes]
rs73835722	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73835726	0.86[EUR][1000 genomes]
rs73835727	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73835728	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73835729	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7621394	0.86[EUR][1000 genomes]
rs7621929	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69135200-69155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:69135800-69155800	Weak transcription	Fetal Kidney	kidney
3	chr3:69136600-69147000	Enhancers	Colon Smooth Muscle	Colon
4	chr3:69136800-69156400	Weak transcription	Fetal Brain Male	brain
5	chr3:69139800-69154600	Weak transcription	A549	lung
6	chr3:69140000-69147000	Enhancers	Fetal Heart	heart
7	chr3:69140400-69148800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:69141400-69146800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:69141600-69151000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:69141600-69151400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:69141600-69151600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:69141600-69152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:69141800-69146400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:69141800-69146600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr3:69141800-69148000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:69141800-69150800	Weak transcription	Fetal Lung	lung
17	chr3:69142000-69160400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:69142200-69147200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:69142200-69147800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:69142200-69153400	Weak transcription	Fetal Brain Female	brain
21	chr3:69142400-69147200	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr3:69142400-69152200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:69143400-69146600	Enhancers	Brain Substantia Nigra	brain
24	chr3:69143400-69147000	Enhancers	HSMMtube	muscle
25	chr3:69143400-69148800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:69143400-69150800	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr3:69143600-69146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:69143600-69147000	Enhancers	Brain Hippocampus Middle	brain
29	chr3:69143600-69147200	Enhancers	Brain Angular Gyrus	brain
30	chr3:69143600-69148600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr3:69143600-69149000	Weak transcription	Aorta	Aorta
32	chr3:69143600-69149200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr3:69143600-69149200	Weak transcription	Lung	lung
34	chr3:69143600-69150600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:69143600-69150600	Weak transcription	Esophagus	oesophagus
36	chr3:69143600-69151000	Weak transcription	Gastric	stomach
37	chr3:69143600-69151200	Weak transcription	Colonic Mucosa	Colon
38	chr3:69143600-69152600	Weak transcription	Ovary	ovary
39	chr3:69143600-69152800	Weak transcription	Brain Germinal Matrix	brain
40	chr3:69143600-69160200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:69143800-69146600	Enhancers	HMEC	breast
42	chr3:69144000-69146400	Weak transcription	NHEK	skin
43	chr3:69144000-69150800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:69144000-69151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:69144000-69151000	Weak transcription	Liver	Liver
46	chr3:69144200-69146400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:69144200-69146400	Weak transcription	Fetal Stomach	stomach
48	chr3:69144200-69147800	Strong transcription	Fetal Intestine Small	intestine
49	chr3:69144200-69151200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr3:69144200-69153000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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