Variant report

Variant	rs2289007
Chromosome Location	chr9:18778189-18778190
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	chr9:18769799..18772875-chr9:18776003..18779587,3	K562	blood:
2	chr9:18777312..18778984-chr9:18781193..18784128,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2289004	0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs2289006	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs41268983	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45579937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4977432	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4977439	0.88[JPT][hapmap]
rs4977440	1.00[JPT][hapmap]
rs55845470	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56235899	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs715212	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs72690557	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72690558	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72690561	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72690565	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72690567	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72690578	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18748200-18779600	Weak transcription	Colonic Mucosa	Colon
2	chr9:18756800-18787200	Weak transcription	HSMMtube	muscle
3	chr9:18757000-18778200	Weak transcription	HUVEC	blood vessel
4	chr9:18764000-18781000	Strong transcription	Osteobl	bone
5	chr9:18768800-18780200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:18769200-18780200	Strong transcription	NH-A	brain
7	chr9:18771000-18781600	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr9:18772200-18785600	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:18772800-18781000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18773000-18786200	Weak transcription	Right Ventricle	heart
11	chr9:18775800-18778400	Enhancers	Pancreas	Pancrea
12	chr9:18775800-18780200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:18776400-18778600	Strong transcription	NHLF	lung
14	chr9:18776400-18778800	Weak transcription	Fetal Brain Female	brain
15	chr9:18776400-18786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:18777000-18778400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:18777000-18778600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:18777000-18784000	Weak transcription	Adipose Nuclei	Adipose
19	chr9:18777200-18786400	Weak transcription	Fetal Intestine Small	intestine
20	chr9:18777600-18778800	Weak transcription	Brain Germinal Matrix	brain
21	chr9:18777600-18779600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:18777600-18779600	Strong transcription	NHDF-Ad	bronchial
23	chr9:18777600-18779800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:18777800-18778400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr9:18777800-18778400	Genic enhancers	Fetal Stomach	stomach
26	chr9:18777800-18780400	Weak transcription	Gastric	stomach
27	chr9:18777800-18780600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:18777800-18786200	Strong transcription	HSMM	muscle
29	chr9:18778000-18778400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:18778000-18778400	Enhancers	Fetal Muscle Trunk	muscle
31	chr9:18778000-18779400	Enhancers	Fetal Heart	heart
32	chr9:18778000-18782600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:18778000-18798200	Weak transcription	Aorta	Aorta

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