Variant report

Variant	rs10733605
Chromosome Location	chr9:116254814-116254815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116252798..116255081-chr9:116267283..116269003,2	K562	blood:
2	chr9:116254507..116256265-chr9:116258071..116260770,2	MCF-7	breast:
3	chr9:116244673..116249213-chr9:116254294..116256965,4	K562	blood:
4	chr9:116245986..116247736-chr9:116254544..116256250,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10739393	0.82[MEX][hapmap]
rs14419	0.94[ASW][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];0.83[YRI][hapmap]
rs1771220	0.84[CEU][hapmap]
rs4979253	0.80[AMR][1000 genomes]
rs4979254	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs680929	1.00[JPT][hapmap]
rs7037761	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7875727	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs818693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs818694	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs818696	0.81[ASN][1000 genomes]
rs818716	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10733605	ALAD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116242000-116255200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:116248200-116259400	Weak transcription	Gastric	stomach
6	chr9:116248600-116261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:116248800-116261600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:116251000-116263800	Weak transcription	Esophagus	oesophagus
9	chr9:116251200-116263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:116251400-116255000	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:116251400-116255000	Weak transcription	HSMMtube	muscle
12	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
13	chr9:116251800-116261600	Weak transcription	HepG2	liver
14	chr9:116252000-116260200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea
16	chr9:116252600-116262000	Weak transcription	A549	lung
17	chr9:116253600-116256000	Enhancers	Right Ventricle	heart
18	chr9:116253600-116256200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:116253600-116256400	Enhancers	Fetal Muscle Leg	muscle
20	chr9:116253600-116256600	Enhancers	Fetal Heart	heart
21	chr9:116253600-116257000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr9:116253600-116257200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:116253800-116256000	Enhancers	Fetal Lung	lung
24	chr9:116254000-116259200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:116254200-116255400	Enhancers	Fetal Kidney	kidney
26	chr9:116254200-116255400	Enhancers	HUVEC	blood vessel
27	chr9:116254200-116255600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:116254200-116255800	Enhancers	Fetal Brain Female	brain
29	chr9:116254200-116256000	Enhancers	Fetal Thymus	thymus
30	chr9:116254200-116256000	Enhancers	HSMM	muscle
31	chr9:116254200-116256200	Enhancers	Brain Germinal Matrix	brain
32	chr9:116254200-116256200	Enhancers	Right Atrium	heart
33	chr9:116254400-116255000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:116254400-116255200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:116254400-116255200	Enhancers	Aorta	Aorta
36	chr9:116254400-116255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:116254400-116255400	Enhancers	Adipose Nuclei	Adipose
38	chr9:116254400-116255400	Enhancers	Osteobl	bone
39	chr9:116254400-116255600	Enhancers	NH-A	brain
40	chr9:116254400-116255800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr9:116254400-116256000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:116254400-116256000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:116254400-116256000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:116254400-116256200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:116254600-116255000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr9:116254600-116255000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:116254600-116255200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr9:116254600-116255400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:116254600-116255400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:116254600-116255400	Enhancers	HUES48 Cell Line	embryonic stem cell

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