Variant report

Variant	rs334713
Chromosome Location	chr1:61622287-61622288
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61622127..61626691-chr1:61627901..61630781,5	K562	blood:
2	chr1:61622127..61624762-chr1:61628255..61629757,2	K562	blood:
3	chr1:61620892..61622507-chr1:61624479..61626051,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12064543	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12070080	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17121598	0.93[EUR][1000 genomes]
rs2807991	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs334698	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334699	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334700	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334701	0.82[CEU][hapmap];0.94[GIH][hapmap]
rs334702	0.85[ASN][1000 genomes]
rs334703	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334704	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334705	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334706	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334708	0.82[CEU][hapmap]
rs334709	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334710	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334712	0.82[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs334716	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334718	0.84[EUR][1000 genomes]
rs334719	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334721	0.90[EUR][1000 genomes]
rs334723	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs334725	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334726	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334727	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334728	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334729	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs334730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs334731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs334732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs334733	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334734	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334737	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3748543	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs382704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs395936	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs406412	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs440611	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4546954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4915586	0.93[EUR][1000 genomes]
rs4915728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6587912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs694151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs694161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][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	nsv1008634	chr1:61613785-61671468	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
2	chr1:61607800-61622600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:61609600-61622800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:61610000-61623400	Weak transcription	Fetal Brain Female	brain
5	chr1:61610200-61623200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:61612000-61635800	Weak transcription	Lung	lung
7	chr1:61612800-61626200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:61615400-61635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:61615400-61635600	Weak transcription	Hela-S3	cervix
10	chr1:61615600-61622600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:61615600-61622600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:61615800-61622400	Weak transcription	NHEK	skin
13	chr1:61616000-61628000	Weak transcription	Gastric	stomach
14	chr1:61616800-61623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:61617000-61627800	Weak transcription	Esophagus	oesophagus
16	chr1:61618000-61622600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:61618000-61622600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:61618000-61628000	Weak transcription	Pancreas	Pancrea
19	chr1:61618200-61622600	Weak transcription	Left Ventricle	heart
20	chr1:61618600-61623400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:61618800-61622400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:61618800-61622600	Weak transcription	Right Atrium	heart
23	chr1:61618800-61623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:61618800-61623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:61619000-61622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:61619200-61622400	Weak transcription	A549	lung
27	chr1:61619200-61649000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:61619600-61622400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:61619800-61623000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:61620600-61622600	Weak transcription	Aorta	Aorta
31	chr1:61620800-61622400	Weak transcription	Stomach Mucosa	stomach
32	chr1:61621200-61622400	Enhancers	HepG2	liver
33	chr1:61621400-61624600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:61621400-61625200	Enhancers	Liver	Liver
35	chr1:61621600-61623400	Enhancers	Psoas Muscle	Psoas
36	chr1:61621600-61623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:61621600-61623600	Enhancers	Small Intestine	intestine
38	chr1:61621600-61625000	Enhancers	Fetal Stomach	stomach
39	chr1:61621800-61623200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:61621800-61623400	Enhancers	Fetal Brain Male	brain
41	chr1:61621800-61623600	Enhancers	K562	blood
42	chr1:61621800-61623800	Enhancers	Brain Anterior Caudate	brain
43	chr1:61621800-61624000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:61621800-61625200	Enhancers	Brain Hippocampus Middle	brain
45	chr1:61621800-61626000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:61621800-61630000	Enhancers	Fetal Heart	heart
47	chr1:61622000-61622400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:61622000-61623400	Enhancers	Ovary	ovary
49	chr1:61622000-61623800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:61622000-61623800	Enhancers	Duodenum Smooth Muscle	Duodenum

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