Variant report

Variant	rs2149986
Chromosome Location	chr9:100334586-100334587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100333571..100335590-chr9:100340872..100342993,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10759781	0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10983030	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12004491	0.84[ASN][1000 genomes]
rs1475544	0.86[ASN][1000 genomes]
rs1800975	0.82[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs2026132	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2773347	0.82[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2773351	0.81[ASN][1000 genomes]
rs2773355	0.93[ASN][1000 genomes]
rs2805775	0.81[ASN][1000 genomes]
rs2805779	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2805791	0.89[ASN][1000 genomes]
rs2805801	0.85[ASN][1000 genomes]
rs2805803	0.94[ASN][1000 genomes]
rs2805806	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2805807	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2805837	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2805839	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2808668	0.82[JPT][hapmap]
rs73656827	0.85[ASN][1000 genomes]
rs913912	0.91[ASN][1000 genomes]
rs958346	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS 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 target site	32 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	chr9:100326800-100337000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
4	chr9:100327400-100335400	Weak transcription	Hela-S3	cervix
5	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
6	chr9:100330800-100336200	Strong transcription	K562	blood
7	chr9:100331000-100334600	Strong transcription	Lung	lung
8	chr9:100331200-100335200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr9:100332000-100335000	Genic enhancers	Fetal Heart	heart
10	chr9:100332400-100334800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:100332400-100335000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:100332600-100334600	Genic enhancers	Brain Anterior Caudate	brain
13	chr9:100332600-100335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:100332600-100336400	Strong transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:100332800-100334600	Strong transcription	GM12878-XiMat	blood
16	chr9:100332800-100334800	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:100332800-100335000	Enhancers	Fetal Muscle Trunk	muscle
18	chr9:100333000-100335600	Enhancers	Liver	Liver
19	chr9:100333200-100334800	Enhancers	Left Ventricle	heart
20	chr9:100333400-100334600	Weak transcription	Fetal Brain Female	brain
21	chr9:100333400-100338400	Strong transcription	Ovary	ovary
22	chr9:100333400-100340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:100333600-100334600	Enhancers	Brain Hippocampus Middle	brain
24	chr9:100333600-100335200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:100333600-100335400	Genic enhancers	Right Ventricle	heart
26	chr9:100333600-100336200	Strong transcription	Aorta	Aorta
27	chr9:100333600-100339400	Weak transcription	Pancreas	Pancrea
28	chr9:100333600-100341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:100333600-100361800	Weak transcription	Gastric	stomach
30	chr9:100333800-100334600	Enhancers	Colon Smooth Muscle	Colon
31	chr9:100334000-100334600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:100334000-100337400	Weak transcription	Adipose Nuclei	Adipose
33	chr9:100334200-100335400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:100334200-100340800	Weak transcription	Psoas Muscle	Psoas
35	chr9:100334200-100356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:100334400-100335200	Weak transcription	Brain Angular Gyrus	brain
37	chr9:100334400-100335600	Weak transcription	Brain Substantia Nigra	brain
38	chr9:100334400-100336000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:100334400-100337000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:100334400-100338600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr9:100334400-100356000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:100334400-100356400	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links