Variant report

Variant	rs333162
Chromosome Location	chr1:61699011-61699012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61585743..61588547-chr1:61696808..61699066,2	K562	blood:
2	chr1:61698846..61701799-chr1:61701891..61703968,3	K562	blood:
3	chr1:61691680..61694705-chr1:61697594..61700756,3	K562	blood:
4	chr1:61691124..61693538-chr1:61697594..61700480,2	K562	blood:
5	chr1:61698276..61700833-chr1:61735388..61737265,2	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[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.98[ASN][1000 genomes]
rs17121858	0.81[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];0.98[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];0.82[ASN][1000 genomes]
rs333137	0.81[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];0.82[ASN][1000 genomes]
rs333141	0.81[EUR][1000 genomes];0.82[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];0.82[ASN][1000 genomes]
rs333143	0.81[ASN][1000 genomes]
rs333144	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs333145	0.89[CEU][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs333146	0.81[ASN][1000 genomes]
rs333147	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs333148	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs333150	0.89[CEU][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];0.99[ASN][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];0.99[ASN][1000 genomes]
rs333164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.98[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];0.98[ASN][1000 genomes]
rs334690	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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];0.98[ASN][1000 genomes]
rs6684051	0.87[CEU][hapmap]
rs72664877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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:47 , 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	chr1:61692600-61699400	Enhancers	HepG2	liver
4	chr1:61692600-61703400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:61692800-61706800	Weak transcription	Fetal Lung	lung
6	chr1:61692800-61707000	Weak transcription	Fetal Stomach	stomach
7	chr1:61692800-61707200	Weak transcription	Pancreas	Pancrea
8	chr1:61693000-61704000	Weak transcription	Right Atrium	heart
9	chr1:61693000-61706800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:61693000-61706800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:61694000-61706800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:61694200-61699200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:61694200-61700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:61694200-61700200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:61694200-61703200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:61694200-61703200	Weak transcription	HMEC	breast
17	chr1:61694200-61703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:61694200-61703600	Weak transcription	Brain Germinal Matrix	brain
19	chr1:61694200-61706800	Weak transcription	Adipose Nuclei	Adipose
20	chr1:61694200-61707000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:61694400-61703600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:61696400-61703200	Weak transcription	A549	lung
23	chr1:61696600-61701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:61696600-61701600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:61696600-61703200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:61696600-61706800	Weak transcription	Right Ventricle	heart
27	chr1:61696600-61707200	Weak transcription	Left Ventricle	heart
28	chr1:61696800-61701600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:61696800-61707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:61696800-61707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:61696800-61707200	Weak transcription	Small Intestine	intestine
32	chr1:61697000-61701600	Weak transcription	Fetal Heart	heart
33	chr1:61697600-61699200	Enhancers	Colon Smooth Muscle	Colon
34	chr1:61697600-61699400	Enhancers	Liver	Liver
35	chr1:61697800-61700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:61698200-61700000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:61698600-61699200	Enhancers	Fetal Intestine Large	intestine
38	chr1:61698600-61699200	Enhancers	Fetal Intestine Small	intestine
39	chr1:61698800-61699200	Enhancers	Fetal Kidney	kidney
40	chr1:61699000-61699200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:61699000-61699200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:61699000-61699200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:61699000-61699200	Flanking Active TSS	K562	blood
44	chr1:61699000-61699600	Enhancers	Brain Anterior Caudate	brain
45	chr1:61699000-61700000	Enhancers	Ovary	ovary
46	chr1:61699000-61700800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:61699000-61703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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