Variant report

Variant	rs333161
Chromosome Location	chr1:61696566-61696567
allele	A/G
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12082781	1.00[YRI][hapmap]
rs162878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[CHB][hapmap];1.00[JPT][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]
rs17121858	0.82[CHB][hapmap];0.87[MKK][hapmap]
rs186742	1.00[MEX][hapmap];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];0.92[JPT][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];0.92[JPT][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	0.92[JPT][hapmap];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];0.87[GIH][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs333146	0.92[JPT][hapmap];0.89[MKK][hapmap];0.82[ASN][1000 genomes]
rs333147	0.89[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs333148	0.89[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs333150	0.89[CEU][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];0.87[AMR][1000 genomes]
rs333160	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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[CHB][hapmap];1.00[JPT][hapmap];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[CHB][hapmap];1.00[JPT][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	0.86[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:53 , 50 per page) page: 1 2

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	chr1:61690600-61699000	Weak transcription	Ovary	ovary
4	chr1:61692600-61699400	Enhancers	HepG2	liver
5	chr1:61692600-61703400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:61692800-61706800	Weak transcription	Fetal Lung	lung
7	chr1:61692800-61707000	Weak transcription	Fetal Stomach	stomach
8	chr1:61692800-61707200	Weak transcription	Pancreas	Pancrea
9	chr1:61693000-61704000	Weak transcription	Right Atrium	heart
10	chr1:61693000-61706800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:61693000-61706800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:61693800-61698200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:61694000-61706800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:61694200-61698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:61694200-61699200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:61694200-61700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:61694200-61700200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:61694200-61703200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:61694200-61703200	Weak transcription	HMEC	breast
20	chr1:61694200-61703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:61694200-61703600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:61694200-61706800	Weak transcription	Adipose Nuclei	Adipose
23	chr1:61694200-61707000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:61694400-61703600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:61694800-61696800	Enhancers	Liver	Liver
26	chr1:61696000-61696600	Enhancers	Brain Substantia Nigra	brain
27	chr1:61696000-61696600	Enhancers	Fetal Intestine Small	intestine
28	chr1:61696000-61696800	Enhancers	Fetal Intestine Large	intestine
29	chr1:61696000-61696800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:61696000-61696800	Enhancers	Stomach Mucosa	stomach
31	chr1:61696000-61697000	Enhancers	Brain Anterior Caudate	brain
32	chr1:61696000-61697000	Enhancers	Fetal Heart	heart
33	chr1:61696200-61696600	Enhancers	Aorta	Aorta
34	chr1:61696200-61696600	Enhancers	Fetal Brain Female	brain
35	chr1:61696200-61696600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:61696200-61696600	Enhancers	Left Ventricle	heart
37	chr1:61696200-61696600	Enhancers	Right Ventricle	heart
38	chr1:61696200-61696800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:61696200-61696800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:61696200-61697200	Enhancers	Colon Smooth Muscle	Colon
41	chr1:61696200-61697800	Enhancers	K562	blood
42	chr1:61696400-61696600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:61696400-61696600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:61696400-61696600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:61696400-61696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:61696400-61696600	Enhancers	Esophagus	oesophagus
47	chr1:61696400-61696600	Enhancers	Fetal Kidney	kidney
48	chr1:61696400-61696600	Enhancers	Psoas Muscle	Psoas
49	chr1:61696400-61696800	Enhancers	Duodenum Mucosa	Duodenum
50	chr1:61696400-61696800	Enhancers	Duodenum Smooth Muscle	Duodenum

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