Variant report

Variant	rs74090339
Chromosome Location	chr1:61696930-61696931
allele	C/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	chr1:61516306..61517924-chr1:61696860..61698612,2	K562	blood:
3	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]
rs11806791	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336184	1.00[ASN][1000 genomes]
rs17121833	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121835	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121841	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121845	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17305204	0.91[EUR][1000 genomes]
rs17305218	0.89[EUR][1000 genomes]
rs17311684	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17311740	0.91[EUR][1000 genomes]
rs17377218	0.87[EUR][1000 genomes]
rs17377232	0.91[EUR][1000 genomes]
rs17377267	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377274	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377281	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377295	0.91[EUR][1000 genomes]
rs17377351	0.91[EUR][1000 genomes]
rs59708846	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61593957	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911905	1.00[ASN][1000 genomes]
rs72929847	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086705	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090327	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090351	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515011	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970076	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9970140	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[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:43 , 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	chr1:61690600-61699000	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	chr1:61696000-61697000	Enhancers	Brain Anterior Caudate	brain
26	chr1:61696000-61697000	Enhancers	Fetal Heart	heart
27	chr1:61696200-61697200	Enhancers	Colon Smooth Muscle	Colon
28	chr1:61696200-61697800	Enhancers	K562	blood
29	chr1:61696400-61703200	Weak transcription	A549	lung
30	chr1:61696600-61698600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:61696600-61701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:61696600-61701600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:61696600-61703200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:61696600-61706800	Weak transcription	Right Ventricle	heart
35	chr1:61696600-61707200	Weak transcription	Left Ventricle	heart
36	chr1:61696800-61697600	Weak transcription	Liver	Liver
37	chr1:61696800-61698600	Weak transcription	Fetal Intestine Large	intestine
38	chr1:61696800-61698600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:61696800-61699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:61696800-61701600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:61696800-61707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:61696800-61707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:61696800-61707200	Weak transcription	Small Intestine	intestine

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