Variant report

Variant	rs12940207
Chromosome Location	chr17:45352194-45352195
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45350786..45352366-chr17:45359022..45360755,2	K562	blood:
3	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514919	0.86[ASN][1000 genomes]
rs11651904	0.86[ASN][1000 genomes]
rs11656865	0.86[ASN][1000 genomes]
rs11657517	0.86[ASN][1000 genomes]
rs11657963	0.86[ASN][1000 genomes]
rs11658221	0.86[ASN][1000 genomes]
rs11868894	1.00[ASN][1000 genomes]
rs11870620	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12941431	0.86[ASN][1000 genomes]
rs12950632	0.89[ASN][1000 genomes]
rs16941776	0.86[ASN][1000 genomes]
rs16941780	0.86[ASN][1000 genomes]
rs16941802	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1969269	0.80[EUR][1000 genomes]
rs2292864	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35265764	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35735886	0.89[ASN][1000 genomes]
rs36046953	0.89[ASN][1000 genomes]
rs3785872	0.92[ASN][1000 genomes]
rs3892085	0.84[ASN][1000 genomes]
rs61131650	0.86[ASN][1000 genomes]
rs62074423	0.86[ASN][1000 genomes]
rs67696888	0.88[EUR][1000 genomes]
rs7219925	0.86[ASN][1000 genomes]
rs72825627	0.84[ASN][1000 genomes]
rs8066295	0.86[ASN][1000 genomes]
rs8074094	0.86[ASN][1000 genomes]
rs8080254	0.86[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
2	chr17:45343600-45352600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45343800-45352600	Weak transcription	Spleen	Spleen
4	chr17:45344000-45352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:45346200-45353200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr17:45346600-45352200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:45346800-45352600	Weak transcription	Fetal Intestine Small	intestine
8	chr17:45346800-45353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:45348400-45352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:45348800-45352400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr17:45350600-45352600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:45350600-45352800	Enhancers	Colon Smooth Muscle	Colon
13	chr17:45350600-45353400	Enhancers	Fetal Heart	heart
14	chr17:45350600-45355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:45350600-45355000	Enhancers	Aorta	Aorta
16	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr17:45350800-45352800	Weak transcription	Primary B cells from cord blood	blood
18	chr17:45351200-45352200	Weak transcription	Fetal Intestine Large	intestine
19	chr17:45351200-45353400	Enhancers	Rectal Smooth Muscle	rectum
20	chr17:45351200-45357800	Enhancers	Ovary	ovary
21	chr17:45351400-45352400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr17:45351600-45352200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:45351600-45352400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45351600-45352800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr17:45351600-45354200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:45351600-45354600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr17:45351600-45354800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:45351600-45356000	Enhancers	NHDF-Ad	bronchial
29	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
30	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr17:45351800-45352200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:45351800-45352400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45351800-45352400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr17:45351800-45352400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:45351800-45352400	Weak transcription	Right Ventricle	heart
36	chr17:45351800-45352600	Enhancers	K562	blood
37	chr17:45351800-45352800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:45351800-45352800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:45351800-45353200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:45351800-45353400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr17:45351800-45353600	Weak transcription	Gastric	stomach
42	chr17:45351800-45354600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:45351800-45355000	Enhancers	Right Atrium	heart
44	chr17:45351800-45356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:45351800-45356000	Enhancers	Adipose Nuclei	Adipose
46	chr17:45351800-45358200	Enhancers	Lung	lung
47	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
48	chr17:45352000-45352400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr17:45352000-45352400	Weak transcription	Fetal Kidney	kidney
50	chr17:45352000-45352400	Weak transcription	Left Ventricle	heart

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