Variant report

Variant	rs3851807
Chromosome Location	chr17:45351519-45351520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45350786..45352366-chr17:45359022..45360755,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1000232	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs15908	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16941801	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292699	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292865	0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4642	0.83[YRI][hapmap]
rs56327427	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209700	0.80[CEU][hapmap]
rs7212751	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7214468	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7217710	0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap]
rs7218632	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073827	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs8074348	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077753	0.87[AFR][1000 genomes]
rs999323	0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap]

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:42 , 50 per page) page: 1

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	chr17:45344800-45351800	Weak transcription	Right Atrium	heart
6	chr17:45345000-45351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:45345000-45351800	Weak transcription	Left Ventricle	heart
8	chr17:45345400-45351800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:45345800-45352000	Weak transcription	NHLF	lung
10	chr17:45346200-45353200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:45346600-45352200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45346800-45352600	Weak transcription	Fetal Intestine Small	intestine
13	chr17:45346800-45353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:45348400-45351600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:45348400-45351800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:45348400-45351800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:45348400-45352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:45348600-45352000	Weak transcription	Osteobl	bone
19	chr17:45348800-45351600	Weak transcription	NHDF-Ad	bronchial
20	chr17:45348800-45352400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:45350200-45351600	Weak transcription	Gastric	stomach
22	chr17:45350600-45351600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:45350600-45352600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:45350600-45352800	Enhancers	Colon Smooth Muscle	Colon
25	chr17:45350600-45353400	Enhancers	Fetal Heart	heart
26	chr17:45350600-45355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:45350600-45355000	Enhancers	Aorta	Aorta
28	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:45350800-45351600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:45350800-45351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:45350800-45352800	Weak transcription	Primary B cells from cord blood	blood
32	chr17:45351000-45351600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:45351000-45351800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr17:45351000-45351800	Enhancers	Duodenum Mucosa	Duodenum
35	chr17:45351000-45351800	Weak transcription	Fetal Kidney	kidney
36	chr17:45351200-45351800	Enhancers	Right Ventricle	heart
37	chr17:45351200-45352200	Weak transcription	Fetal Intestine Large	intestine
38	chr17:45351200-45353400	Enhancers	Rectal Smooth Muscle	rectum
39	chr17:45351200-45357800	Enhancers	Ovary	ovary
40	chr17:45351400-45351600	Enhancers	Stomach Smooth Muscle	stomach
41	chr17:45351400-45351800	Weak transcription	K562	blood
42	chr17:45351400-45352400	Weak transcription	Primary monocytes fromperipheralblood	blood

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