Variant report

Variant	rs59708846
Chromosome Location	chr1:61687651-61687652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61685407..61688554-chr1:61690743..61693664,3	K562	blood:
2	chr1:61514970..61516476-chr1:61686022..61688789,2	K562	blood:
3	chr1:61684478..61689814-chr1:61689911..61696022,10	K562	blood:
4	chr1:61674775..61677797-chr1:61686761..61689585,3	K562	blood:
5	chr1:61680034..61681666-chr1:61686739..61689147,2	K562	blood:
6	chr1:61520094..61522677-chr1:61687315..61690312,2	K562	blood:
7	chr1:61687117..61688751-chr1:61709557..61711525,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11806791	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17121798	0.84[EUR][1000 genomes]
rs17121833	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17121835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17121841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17121845	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17311684	0.82[EUR][1000 genomes]
rs17377134	0.93[EUR][1000 genomes]
rs17377148	0.93[EUR][1000 genomes]
rs17377267	0.82[EUR][1000 genomes]
rs17377274	0.82[EUR][1000 genomes]
rs17377281	0.82[EUR][1000 genomes]
rs55878063	0.87[EUR][1000 genomes]
rs61593957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929847	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74086705	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74090327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090339	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74090351	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7515011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs868110	0.93[EUR][1000 genomes]
rs9970076	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970140	0.87[AMR][1000 genomes];1.00[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	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61669200-61692400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:61669400-61691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:61669600-61692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:61676600-61690000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:61677600-61692400	Weak transcription	Esophagus	oesophagus
6	chr1:61679200-61692200	Weak transcription	NHEK	skin
7	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:61682000-61690200	Weak transcription	Ovary	ovary
9	chr1:61682000-61692400	Weak transcription	Left Ventricle	heart
10	chr1:61682000-61706800	Weak transcription	Gastric	stomach
11	chr1:61682200-61691800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:61683800-61692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:61684000-61690000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:61684200-61690200	Weak transcription	Psoas Muscle	Psoas
15	chr1:61684400-61692400	Weak transcription	K562	blood
16	chr1:61685000-61688600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:61685600-61688200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:61685800-61688200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:61686000-61690600	Enhancers	HepG2	liver
20	chr1:61686000-61690800	Enhancers	Brain Substantia Nigra	brain
21	chr1:61686400-61688000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:61686600-61690000	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:61686600-61690200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:61686600-61691800	Weak transcription	Fetal Brain Female	brain
25	chr1:61686800-61690200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:61686800-61693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:61687200-61687800	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:61687200-61688000	Active TSS	Brain Hippocampus Middle	brain
29	chr1:61687200-61688200	Enhancers	Liver	Liver
30	chr1:61687400-61687800	Active TSS	Brain Anterior Caudate	brain
31	chr1:61687400-61687800	Active TSS	Fetal Brain Male	brain
32	chr1:61687400-61687800	Enhancers	Fetal Lung	lung
33	chr1:61687400-61688000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:61687400-61688000	Active TSS	Brain Germinal Matrix	brain
35	chr1:61687400-61688200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:61687400-61688200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:61687400-61688400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:61687400-61689000	Enhancers	A549	lung
39	chr1:61687600-61688000	Weak transcription	Fetal Stomach	stomach
40	chr1:61687600-61688200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:61687600-61688600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:61687600-61690200	Weak transcription	Aorta	Aorta
43	chr1:61687600-61690200	Weak transcription	Small Intestine	intestine
44	chr1:61687600-61690600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:61687600-61691800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:61687600-61692000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:61687600-61692400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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