Variant report

Variant	rs2960673
Chromosome Location	chr4:42046535-42046536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10490917	0.87[EUR][1000 genomes]
rs11592116	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11598532	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1476795	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1541466	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544543	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1547947	0.96[ASN][1000 genomes]
rs17093700	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2024179	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420114	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2420117	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2420118	0.91[EUR][1000 genomes]
rs2420120	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2420123	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804166	0.81[EUR][1000 genomes]
rs2860364	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901061	0.88[EUR][1000 genomes]
rs2901094	0.84[ASN][1000 genomes]
rs2907548	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907557	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907560	0.90[EUR][1000 genomes]
rs2907562	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907571	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2907574	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2907579	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2907581	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960656	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960657	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960669	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960674	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960685	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960686	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960688	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960689	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960690	0.81[EUR][1000 genomes]
rs2960692	0.85[EUR][1000 genomes]
rs3110773	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6585363	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6585364	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72830991	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72830992	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1808601	chr4:41931781-42087790	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv878960	chr4:41956313-42099209	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv878963	chr4:41977804-42078241	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv878964	chr4:41977804-42161427	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv878965	chr4:41994645-42082479	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv878966	chr4:42011970-42215425	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:41994600-42082000	Weak transcription	NHEK	skin
2	chr4:42010800-42046800	Weak transcription	Fetal Heart	heart
3	chr4:42022800-42050400	Weak transcription	Hela-S3	cervix
4	chr4:42026400-42057800	Weak transcription	A549	lung
5	chr4:42026400-42066000	Weak transcription	Small Intestine	intestine
6	chr4:42026400-42072200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:42026400-42090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:42026400-42092200	Weak transcription	Psoas Muscle	Psoas
9	chr4:42032000-42074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:42032200-42050400	Weak transcription	NHLF	lung
11	chr4:42032200-42065000	Weak transcription	NH-A	brain
12	chr4:42036800-42047200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:42037600-42047000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:42037800-42046800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:42038800-42082000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:42039000-42051000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:42039000-42065800	Weak transcription	HepG2	liver
18	chr4:42039600-42065000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:42040200-42054400	Weak transcription	GM12878-XiMat	blood
20	chr4:42040800-42050200	Weak transcription	HUVEC	blood vessel
21	chr4:42040800-42052600	Weak transcription	HMEC	breast
22	chr4:42041400-42084800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:42042000-42047000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:42042000-42047200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:42042200-42051000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:42042400-42084000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:42042400-42089800	Weak transcription	Fetal Brain Male	brain
28	chr4:42042400-42092200	Weak transcription	Brain Angular Gyrus	brain
29	chr4:42042800-42047000	Strong transcription	Fetal Kidney	kidney
30	chr4:42043400-42051000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:42043600-42050600	Weak transcription	K562	blood
32	chr4:42043600-42082000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:42043800-42052600	Weak transcription	NHDF-Ad	bronchial
34	chr4:42043800-42066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:42044000-42050400	Weak transcription	Primary B cells from cord blood	blood
36	chr4:42044000-42050400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:42044000-42051200	Weak transcription	HSMM	muscle
38	chr4:42044000-42054200	Weak transcription	Osteobl	bone
39	chr4:42044000-42088400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:42044200-42059000	Weak transcription	Spleen	Spleen
41	chr4:42044400-42051200	Weak transcription	Dnd41	blood
42	chr4:42044400-42065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:42044600-42046600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:42044600-42050600	Weak transcription	Left Ventricle	heart
45	chr4:42044600-42050800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr4:42044600-42053000	Weak transcription	HSMMtube	muscle
47	chr4:42044600-42065000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:42044600-42089600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:42044600-42092600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:42044800-42050400	Weak transcription	Primary T cells from cord blood	blood

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