Variant report

Variant	rs333160
Chromosome Location	chr1:61696209-61696210
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61695940..61697862-chr1:61707751..61709468,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12082781	1.00[YRI][hapmap]
rs162878	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs167987	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs186742	0.81[AMR][1000 genomes]
rs2275208	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333136	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs333137	0.82[ASN][1000 genomes]
rs333138	0.87[AMR][1000 genomes]
rs333140	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs333141	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs333142	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs333143	0.82[ASN][1000 genomes]
rs333144	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs333145	0.89[CEU][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs333146	0.82[ASN][1000 genomes]
rs333147	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs333148	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs333150	0.89[CEU][hapmap];0.87[AMR][1000 genomes]
rs333161	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333162	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs333164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333165	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333166	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334690	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4244151	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684051	0.87[CEU][hapmap]
rs72664877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
3	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61682000-61706800	Weak transcription	Gastric	stomach
3	chr1:61690400-61696400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:61690600-61696400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:61690600-61699000	Weak transcription	Ovary	ovary
6	chr1:61692200-61696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:61692600-61699400	Enhancers	HepG2	liver
8	chr1:61692600-61703400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:61692800-61696400	Weak transcription	Esophagus	oesophagus
10	chr1:61692800-61696400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:61692800-61706800	Weak transcription	Fetal Lung	lung
12	chr1:61692800-61707000	Weak transcription	Fetal Stomach	stomach
13	chr1:61692800-61707200	Weak transcription	Pancreas	Pancrea
14	chr1:61693000-61704000	Weak transcription	Right Atrium	heart
15	chr1:61693000-61706800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:61693000-61706800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:61693800-61698200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:61694000-61706800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:61694200-61696400	Weak transcription	Psoas Muscle	Psoas
20	chr1:61694200-61698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:61694200-61699200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:61694200-61700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:61694200-61700200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:61694200-61703200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:61694200-61703200	Weak transcription	HMEC	breast
26	chr1:61694200-61703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:61694200-61703600	Weak transcription	Brain Germinal Matrix	brain
28	chr1:61694200-61706800	Weak transcription	Adipose Nuclei	Adipose
29	chr1:61694200-61707000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:61694400-61703600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:61694800-61696800	Enhancers	Liver	Liver
32	chr1:61696000-61696400	Enhancers	A549	lung
33	chr1:61696000-61696600	Enhancers	Brain Substantia Nigra	brain
34	chr1:61696000-61696600	Enhancers	Fetal Intestine Small	intestine
35	chr1:61696000-61696800	Enhancers	Fetal Intestine Large	intestine
36	chr1:61696000-61696800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:61696000-61696800	Enhancers	Stomach Mucosa	stomach
38	chr1:61696000-61697000	Enhancers	Brain Anterior Caudate	brain
39	chr1:61696000-61697000	Enhancers	Fetal Heart	heart
40	chr1:61696200-61696600	Enhancers	Aorta	Aorta
41	chr1:61696200-61696600	Enhancers	Fetal Brain Female	brain
42	chr1:61696200-61696600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:61696200-61696600	Enhancers	Left Ventricle	heart
44	chr1:61696200-61696600	Enhancers	Right Ventricle	heart
45	chr1:61696200-61696800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:61696200-61696800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr1:61696200-61697200	Enhancers	Colon Smooth Muscle	Colon
48	chr1:61696200-61697800	Enhancers	K562	blood

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