Variant report

Variant	rs12379728
Chromosome Location	chr9:100333004-100333005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100331492..100333368-chr9:100335840..100338156,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10817771	0.85[ASN][1000 genomes]
rs10982748	0.83[ASN][1000 genomes]
rs11789701	0.82[ASN][1000 genomes]
rs11792768	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11795334	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12380094	0.85[ASN][1000 genomes]
rs12685683	0.85[ASN][1000 genomes]
rs1475543	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1475544	0.85[EUR][1000 genomes]
rs2031999	0.85[ASN][1000 genomes]
rs2805807	0.85[ASN][1000 genomes]
rs56237852	0.82[ASN][1000 genomes]
rs73656827	1.00[EUR][1000 genomes]
rs7872493	0.84[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100324200-100333200	Weak transcription	Spleen	Spleen
2	chr9:100326800-100337000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:100327000-100333200	Strong transcription	Pancreas	Pancrea
4	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:100327200-100333200	Strong transcription	Aorta	Aorta
6	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
7	chr9:100327400-100333400	Weak transcription	Fetal Brain Male	brain
8	chr9:100327400-100335400	Weak transcription	Hela-S3	cervix
9	chr9:100327600-100333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:100329000-100333400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
11	chr9:100330200-100333600	Strong transcription	Gastric	stomach
12	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
13	chr9:100330800-100336200	Strong transcription	K562	blood
14	chr9:100331000-100333200	Weak transcription	Right Atrium	heart
15	chr9:100331000-100334600	Strong transcription	Lung	lung
16	chr9:100331200-100334200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:100331200-100335200	Genic enhancers	Fetal Muscle Leg	muscle
18	chr9:100331400-100333200	Weak transcription	Right Ventricle	heart
19	chr9:100331600-100333200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:100332000-100333800	Genic enhancers	Colon Smooth Muscle	Colon
21	chr9:100332000-100335000	Genic enhancers	Fetal Heart	heart
22	chr9:100332400-100333200	Genic enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:100332400-100334400	Enhancers	Brain Substantia Nigra	brain
24	chr9:100332400-100334400	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr9:100332400-100334800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:100332400-100335000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:100332600-100333200	Genic enhancers	Left Ventricle	heart
28	chr9:100332600-100333400	Genic enhancers	Ovary	ovary
29	chr9:100332600-100334200	Enhancers	Psoas Muscle	Psoas
30	chr9:100332600-100334400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:100332600-100334400	Enhancers	HSMMtube	muscle
32	chr9:100332600-100334600	Genic enhancers	Brain Anterior Caudate	brain
33	chr9:100332600-100335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:100332600-100336400	Strong transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:100332800-100333200	Weak transcription	Fetal Brain Female	brain
36	chr9:100332800-100333400	Enhancers	Brain Hippocampus Middle	brain
37	chr9:100332800-100334000	Enhancers	Adipose Nuclei	Adipose
38	chr9:100332800-100334400	Genic enhancers	Brain Angular Gyrus	brain
39	chr9:100332800-100334400	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:100332800-100334600	Strong transcription	GM12878-XiMat	blood
41	chr9:100332800-100334800	Enhancers	Rectal Smooth Muscle	rectum
42	chr9:100332800-100335000	Enhancers	Fetal Muscle Trunk	muscle
43	chr9:100333000-100333600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:100333000-100333600	Enhancers	HSMM	muscle
45	chr9:100333000-100334200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr9:100333000-100334200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:100333000-100335600	Enhancers	Liver	Liver

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