Variant report

Variant	rs17206601
Chromosome Location	chr9:18474821-18474822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10511638	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511655	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511657	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963615	0.91[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788016	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788507	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789771	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789989	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792038	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793618	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794163	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538735	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936729	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936798	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205346	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205381	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205520	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205912	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206657	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206965	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207028	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207294	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17799670	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17801150	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801409	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832637	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832746	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2153419	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7031222	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs725837	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7863523	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18471800-18475800	Enhancers	Hela-S3	cervix
2	chr9:18473000-18475200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:18473000-18475200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr9:18473000-18476800	Flanking Active TSS	HUVEC	blood vessel
5	chr9:18473000-18478000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:18473200-18476400	Active TSS	NHLF	lung
7	chr9:18473200-18476800	Active TSS	NHDF-Ad	bronchial
8	chr9:18473200-18477800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18473200-18477800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:18473400-18475200	Active TSS	Fetal Heart	heart
11	chr9:18473400-18475400	Active TSS	Fetal Kidney	kidney
12	chr9:18473400-18475400	Active TSS	Stomach Smooth Muscle	stomach
13	chr9:18473400-18475800	Active TSS	Fetal Muscle Leg	muscle
14	chr9:18473400-18476000	Active TSS	Fetal Stomach	stomach
15	chr9:18473400-18476600	Active TSS	HSMMtube	muscle
16	chr9:18473600-18475000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:18473600-18475000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr9:18473600-18475200	Active TSS	Fetal Muscle Trunk	muscle
19	chr9:18473600-18475200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr9:18473600-18475200	Active TSS	Right Ventricle	heart
21	chr9:18473600-18476200	Active TSS	NH-A	brain
22	chr9:18473800-18475000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr9:18473800-18475400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:18473800-18476200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:18473800-18477000	Active TSS	HSMM	muscle
26	chr9:18474000-18475000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:18474000-18475400	Active TSS	Aorta	Aorta
28	chr9:18474000-18475400	Active TSS	Rectal Smooth Muscle	rectum
29	chr9:18474000-18476200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr9:18474200-18475000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr9:18474200-18475000	Flanking Active TSS	Fetal Brain Female	brain
32	chr9:18474200-18475000	Enhancers	Ovary	ovary
33	chr9:18474200-18475000	Flanking Active TSS	HMEC	breast
34	chr9:18474200-18478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:18474400-18475000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr9:18474400-18475000	Enhancers	Brain Angular Gyrus	brain
37	chr9:18474400-18475200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:18474400-18475200	Enhancers	Colonic Mucosa	Colon
39	chr9:18474400-18475200	Enhancers	Fetal Lung	lung
40	chr9:18474400-18475400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:18474400-18475400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:18474400-18477000	Weak transcription	Brain Substantia Nigra	brain
43	chr9:18474600-18475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:18474600-18475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:18474600-18475000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:18474600-18475000	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr9:18474600-18475000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr9:18474600-18475000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr9:18474600-18475000	Enhancers	Small Intestine	intestine
50	chr9:18474600-18475400	Enhancers	Cortex derived primary cultured neurospheres	brain

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