Variant report

Variant	rs7574711
Chromosome Location	chr2:172557246-172557247
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	chr2:172554984..172557454-chr2:172560773..172563069,2	K562	blood:
2	chr2:172543001..172545945-chr2:172556764..172559537,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10179020	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10184770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10185633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10191399	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10196521	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10201520	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1022358	0.81[AMR][1000 genomes]
rs10930493	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1105264	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11678892	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11887208	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11903123	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12464262	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12471160	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12478189	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12479374	0.80[AMR][1000 genomes]
rs12692971	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13012103	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1400816	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1515812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1517678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1543168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1607253	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859721	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17580984	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17614989	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17615013	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1850031	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1878583	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1996425	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2037164	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292813	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357064	0.90[ASN][1000 genomes]
rs312915	0.84[AFR][1000 genomes]
rs312917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770443	0.86[ASN][1000 genomes]
rs3770444	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3770457	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3821092	0.82[ASN][1000 genomes]
rs3821094	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821096	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4507064	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4668417	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58565148	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59414074	0.95[AFR][1000 genomes]
rs61588295	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6433313	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6433315	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6753859	0.80[ASN][1000 genomes]
rs7574090	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7588351	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9287948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs949548	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs970948	0.90[ASN][1000 genomes]
rs979956	0.80[AFR][1000 genomes]
rs979957	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 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	chr2:172545000-172580200	Weak transcription	Pancreas	Pancrea
2	chr2:172545000-172580400	Weak transcription	Spleen	Spleen
3	chr2:172545000-172580800	Weak transcription	Gastric	stomach
4	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172545800-172560200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:172545800-172573000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:172545800-172575400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
10	chr2:172546000-172558600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:172546000-172559200	Weak transcription	Psoas Muscle	Psoas
12	chr2:172546000-172559800	Weak transcription	Fetal Heart	heart
13	chr2:172546000-172560600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:172546000-172563000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:172546000-172567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:172546000-172568600	Weak transcription	Hela-S3	cervix
17	chr2:172546200-172558400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:172546400-172561200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:172546400-172574600	Weak transcription	Right Atrium	heart
20	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
21	chr2:172546800-172560400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:172547000-172578600	Weak transcription	Fetal Brain Male	brain
23	chr2:172547200-172560000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:172547200-172561000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:172547800-172560400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:172548200-172571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:172548400-172579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:172549400-172557600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:172550200-172564200	Weak transcription	HMEC	breast
30	chr2:172550200-172567800	Weak transcription	Dnd41	blood
31	chr2:172551600-172584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:172551800-172560400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:172552200-172573400	Weak transcription	Fetal Brain Female	brain
34	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:172553000-172559800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:172553400-172557800	Strong transcription	Fetal Intestine Small	intestine
37	chr2:172553400-172558000	Strong transcription	Fetal Stomach	stomach
38	chr2:172553600-172558000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:172553600-172558200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:172554000-172580200	Weak transcription	Aorta	Aorta
41	chr2:172554200-172558400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:172554400-172559200	Weak transcription	Lung	lung
43	chr2:172554400-172560000	Weak transcription	HSMMtube	muscle
44	chr2:172554400-172563800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:172554400-172566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
47	chr2:172554600-172558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:172554600-172558600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:172554600-172558800	Weak transcription	HUVEC	blood vessel
50	chr2:172554600-172559200	Weak transcription	NHLF	lung

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