Variant report

Variant	rs10982745
Chromosome Location	chr9:100324086-100324087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100316877..100321720-chr9:100323488..100327192,5	K562	blood:
2	chr9:100324071..100326251-chr9:100329455..100331958,2	K562	blood:
3	chr9:100293612..100296079-chr9:100323288..100324987,2	K562	blood:

Variant related genes	Relation type
ENSG00000136842	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1536950	0.83[AMR][1000 genomes]
rs2094758	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2773343	0.85[CHD][hapmap]
rs2773350	0.85[CHD][hapmap]
rs2805774	0.85[CHD][hapmap]
rs2805831	0.85[CHD][hapmap]
rs6478262	0.89[EUR][1000 genomes]
rs7037608	0.82[EUR][1000 genomes]
rs7871185	0.90[EUR][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10982745	C9orf156	cis	cerebellum	SCAN
rs10982745	C9orf130	cis	parietal	SCAN
rs10982745	PTPDC1	cis	parietal	SCAN
rs10982745	GALNT12	cis	parietal	SCAN
rs10982745	TMOD1	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100311800-100325200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:100315600-100326200	Weak transcription	Esophagus	oesophagus
3	chr9:100319200-100327400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:100320000-100326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:100320000-100326200	Weak transcription	Pancreas	Pancrea
6	chr9:100320000-100326200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:100320000-100326600	Weak transcription	Gastric	stomach
8	chr9:100320400-100324600	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:100320400-100326400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:100320600-100326000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:100320800-100325600	Weak transcription	Aorta	Aorta
12	chr9:100321200-100325000	Strong transcription	K562	blood
13	chr9:100321400-100325400	Weak transcription	Adipose Nuclei	Adipose
14	chr9:100321600-100324800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:100321600-100325400	Weak transcription	Fetal Brain Female	brain
16	chr9:100321600-100326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:100321600-100326400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:100321600-100331400	Weak transcription	Liver	Liver
19	chr9:100321800-100326200	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:100322000-100324200	Enhancers	GM12878-XiMat	blood
21	chr9:100322000-100326000	Weak transcription	Fetal Brain Male	brain
22	chr9:100322400-100324600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:100323200-100324200	Enhancers	Brain Angular Gyrus	brain
24	chr9:100323200-100324200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:100323200-100324400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:100323200-100324400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr9:100323200-100325000	Enhancers	Lung	lung
28	chr9:100323200-100325400	Enhancers	Right Atrium	heart
29	chr9:100323200-100325800	Enhancers	Brain Hippocampus Middle	brain
30	chr9:100323200-100326000	Enhancers	Brain Substantia Nigra	brain
31	chr9:100323200-100326200	Enhancers	Brain Cingulate Gyrus	brain
32	chr9:100323200-100327200	Enhancers	Left Ventricle	heart
33	chr9:100323200-100327400	Enhancers	Right Ventricle	heart
34	chr9:100323400-100324200	Weak transcription	Brain Germinal Matrix	brain
35	chr9:100323400-100324200	Enhancers	Spleen	Spleen
36	chr9:100323600-100325200	Genic enhancers	Brain Anterior Caudate	brain
37	chr9:100323600-100326400	Weak transcription	HSMMtube	muscle
38	chr9:100323800-100324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:100323800-100324400	Weak transcription	Fetal Heart	heart
40	chr9:100323800-100324400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr9:100323800-100324800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:100323800-100325000	Weak transcription	Psoas Muscle	Psoas
43	chr9:100324000-100324200	Bivalent Enhancer	NHDF-Ad	bronchial
44	chr9:100324000-100324400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:100324000-100327600	Genic enhancers	Ovary	ovary

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