Variant report

Variant	rs334710
Chromosome Location	chr1:61625872-61625873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61622127..61626691-chr1:61627901..61630781,5	K562	blood:
2	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]
rs11207708	0.88[JPT][hapmap]
rs12064543	0.84[EUR][1000 genomes]
rs12070080	0.84[EUR][1000 genomes]
rs168022	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs17121598	0.84[EUR][1000 genomes]
rs2807991	0.84[EUR][1000 genomes]
rs334698	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334699	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334700	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334701	0.82[CEU][hapmap]
rs334703	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334704	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334705	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334706	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334708	0.82[CEU][hapmap]
rs334709	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334713	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334716	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs334717	0.84[YRI][hapmap]
rs334718	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs334719	0.84[EUR][1000 genomes]
rs334721	0.81[EUR][1000 genomes]
rs334722	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs334723	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs334724	0.96[AFR][1000 genomes]
rs334725	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334726	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334727	0.91[EUR][1000 genomes]
rs334728	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs334729	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs334730	0.84[EUR][1000 genomes]
rs334731	0.84[EUR][1000 genomes]
rs334733	0.84[EUR][1000 genomes]
rs334734	0.84[EUR][1000 genomes]
rs334737	0.84[EUR][1000 genomes]
rs334739	0.84[EUR][1000 genomes]
rs3748543	0.84[EUR][1000 genomes]
rs395936	0.84[EUR][1000 genomes]
rs406412	0.84[EUR][1000 genomes]
rs440611	0.84[EUR][1000 genomes]
rs4546954	0.84[EUR][1000 genomes]
rs4915586	0.84[EUR][1000 genomes]
rs6587912	0.84[EUR][1000 genomes]
rs694151	0.84[EUR][1000 genomes]
rs694161	0.81[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
2	chr1:61612000-61635800	Weak transcription	Lung	lung
3	chr1:61612800-61626200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:61615400-61635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:61615400-61635600	Weak transcription	Hela-S3	cervix
6	chr1:61616000-61628000	Weak transcription	Gastric	stomach
7	chr1:61617000-61627800	Weak transcription	Esophagus	oesophagus
8	chr1:61618000-61628000	Weak transcription	Pancreas	Pancrea
9	chr1:61619200-61649000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:61621800-61626000	Enhancers	Colon Smooth Muscle	Colon
11	chr1:61621800-61630000	Enhancers	Fetal Heart	heart
12	chr1:61622800-61635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:61622800-61635800	Weak transcription	HUVEC	blood vessel
14	chr1:61623200-61628000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:61623400-61627000	Weak transcription	Psoas Muscle	Psoas
16	chr1:61623400-61629200	Weak transcription	Brain Germinal Matrix	brain
17	chr1:61623400-61635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:61623600-61626000	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:61623600-61627200	Weak transcription	Left Ventricle	heart
20	chr1:61623600-61627200	Weak transcription	Right Atrium	heart
21	chr1:61623600-61627800	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:61623600-61629400	Weak transcription	Small Intestine	intestine
23	chr1:61623600-61635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:61623600-61635800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:61623800-61626000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:61623800-61626000	Weak transcription	HMEC	breast
27	chr1:61623800-61635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:61624000-61634600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:61624000-61636000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:61624200-61627200	Enhancers	Brain Anterior Caudate	brain
31	chr1:61624200-61628200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:61624400-61627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:61624400-61628800	Weak transcription	NHLF	lung
34	chr1:61624400-61629200	Weak transcription	Adipose Nuclei	Adipose
35	chr1:61624400-61634600	Weak transcription	A549	lung
36	chr1:61624600-61626000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:61624600-61626000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:61624600-61628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:61624600-61628800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:61624600-61635800	Weak transcription	Fetal Intestine Large	intestine
41	chr1:61624600-61635800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:61624600-61650400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:61624800-61626200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:61625000-61626000	Genic enhancers	Fetal Stomach	stomach
45	chr1:61625000-61626400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:61625000-61627000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:61625000-61627400	Enhancers	Ovary	ovary
48	chr1:61625200-61626000	Weak transcription	Fetal Lung	lung
49	chr1:61625200-61627000	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:61625200-61627000	Weak transcription	Brain Substantia Nigra	brain

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