Variant report

Variant	rs334721
Chromosome Location	chr1:61638521-61638522
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61626663..61630629-chr1:61636712..61638696,3	K562	blood:
2	chr1:61517169..61519611-chr1:61636175..61638913,2	K562	blood:
3	chr1:61518111..61520949-chr1:61637413..61640142,2	K562	blood:
4	chr1:61629129..61632873-chr1:61634036..61638696,5	K562	blood:
5	chr1:61637787..61640329-chr1:61641954..61643964,3	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12064543	0.96[EUR][1000 genomes]
rs12070080	0.96[EUR][1000 genomes]
rs17121598	0.96[EUR][1000 genomes]
rs2807991	0.96[EUR][1000 genomes]
rs334698	0.90[EUR][1000 genomes]
rs334699	0.90[EUR][1000 genomes]
rs334700	0.90[EUR][1000 genomes]
rs334703	0.90[EUR][1000 genomes]
rs334704	0.90[EUR][1000 genomes]
rs334705	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs334706	0.90[EUR][1000 genomes]
rs334709	0.90[EUR][1000 genomes]
rs334710	0.81[EUR][1000 genomes]
rs334713	0.90[EUR][1000 genomes]
rs334716	0.90[EUR][1000 genomes]
rs334718	0.81[EUR][1000 genomes]
rs334719	0.90[EUR][1000 genomes]
rs334723	0.90[EUR][1000 genomes]
rs334725	0.90[EUR][1000 genomes]
rs334726	0.90[EUR][1000 genomes]
rs334727	0.90[EUR][1000 genomes]
rs334728	0.90[EUR][1000 genomes]
rs334729	0.87[EUR][1000 genomes]
rs334730	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs334731	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs334733	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs334734	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs334737	0.96[EUR][1000 genomes]
rs334739	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3748543	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs395936	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs406412	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs440611	0.96[EUR][1000 genomes]
rs4546954	0.96[EUR][1000 genomes]
rs4915586	0.96[EUR][1000 genomes]
rs6587912	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs694151	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs694161	1.00[CEU][hapmap];0.93[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
2	chr1:61619200-61649000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:61624600-61650400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:61626400-61639000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:61633000-61639000	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:61633200-61638800	Enhancers	Fetal Lung	lung
7	chr1:61634400-61640400	Enhancers	Brain Hippocampus Middle	brain
8	chr1:61634600-61638800	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:61634600-61638800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:61634600-61639200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:61635000-61639000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:61635000-61639000	Enhancers	Fetal Stomach	stomach
13	chr1:61635000-61641000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:61635000-61641800	Enhancers	Psoas Muscle	Psoas
15	chr1:61635200-61639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:61635600-61640400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:61635600-61640600	Enhancers	Fetal Heart	heart
18	chr1:61635600-61640800	Enhancers	Right Atrium	heart
19	chr1:61635600-61642200	Enhancers	Brain Substantia Nigra	brain
20	chr1:61635800-61638800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:61635800-61639000	Enhancers	NHDF-Ad	bronchial
22	chr1:61635800-61639800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:61635800-61640000	Enhancers	Left Ventricle	heart
24	chr1:61635800-61640800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:61636000-61639000	Enhancers	Fetal Kidney	kidney
26	chr1:61636000-61639400	Enhancers	Fetal Muscle Leg	muscle
27	chr1:61636000-61640400	Enhancers	Brain Angular Gyrus	brain
28	chr1:61636200-61639000	Weak transcription	Lung	lung
29	chr1:61636200-61644200	Weak transcription	Esophagus	oesophagus
30	chr1:61636200-61644200	Weak transcription	Gastric	stomach
31	chr1:61636200-61644200	Weak transcription	Pancreas	Pancrea
32	chr1:61636200-61648800	Weak transcription	Placenta	Placenta
33	chr1:61636200-61649000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:61636400-61639800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:61636400-61640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:61636600-61639000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:61636600-61639000	Enhancers	Osteobl	bone
38	chr1:61636600-61640400	Enhancers	Fetal Brain Female	brain
39	chr1:61636600-61644400	Weak transcription	Stomach Mucosa	stomach
40	chr1:61636600-61649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:61636600-61649200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:61636800-61639000	Weak transcription	Hela-S3	cervix
43	chr1:61636800-61639400	Weak transcription	HepG2	liver
44	chr1:61636800-61639600	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:61636800-61647200	Weak transcription	A549	lung
46	chr1:61636800-61647200	Weak transcription	HUVEC	blood vessel
47	chr1:61637200-61638800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:61637200-61638800	Enhancers	Small Intestine	intestine
49	chr1:61637200-61639200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:61637200-61640400	Enhancers	Adipose Nuclei	Adipose

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