Variant report

Variant	rs12347518
Chromosome Location	chr9:104330763-104330764
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	chr9:104329440..104331713-chr9:104334657..104336622,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10115763	1.00[ASN][1000 genomes]
rs10989553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12342026	0.96[ASN][1000 genomes]
rs12343288	0.89[ASN][1000 genomes]
rs16920473	0.89[ASN][1000 genomes]
rs1885977	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs28736702	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34153995	0.84[ASN][1000 genomes]
rs34727333	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs36004060	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3739722	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824473	0.96[ASN][1000 genomes]
rs45488691	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7030238	1.00[ASN][1000 genomes]
rs7034754	0.88[ASN][1000 genomes]
rs9299345	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1052492	chr9:104263419-104387782	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv893627	chr9:104268342-104334333	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104296800-104334200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:104296800-104337400	Weak transcription	Stomach Mucosa	stomach
3	chr9:104297800-104332600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:104297800-104333000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr9:104298000-104332800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr9:104298200-104333200	Strong transcription	Adipose Nuclei	Adipose
7	chr9:104298400-104333200	Strong transcription	Liver	Liver
8	chr9:104298400-104333400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr9:104299000-104333000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:104301600-104333400	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:104301800-104331800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:104302200-104333000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:104311800-104332400	Strong transcription	Fetal Intestine Large	intestine
14	chr9:104313200-104335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:104315000-104334600	Weak transcription	Small Intestine	intestine
16	chr9:104318200-104333400	Strong transcription	Primary B cells from cord blood	blood
17	chr9:104319600-104330800	Strong transcription	Brain Anterior Caudate	brain
18	chr9:104319600-104330800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr9:104319600-104330800	Strong transcription	Fetal Muscle Leg	muscle
20	chr9:104319600-104333000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:104320600-104332600	Weak transcription	HMEC	breast
22	chr9:104320600-104333200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:104320800-104331600	Weak transcription	Fetal Heart	heart
24	chr9:104321800-104331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:104322200-104332200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:104322600-104333000	Strong transcription	A549	lung
27	chr9:104323000-104332800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:104323200-104330800	Strong transcription	Fetal Brain Female	brain
29	chr9:104323600-104334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:104324000-104332800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:104324200-104332800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr9:104324800-104334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:104324800-104334800	Weak transcription	Right Ventricle	heart
34	chr9:104325000-104331400	Weak transcription	K562	blood
35	chr9:104325000-104333200	Weak transcription	NHDF-Ad	bronchial
36	chr9:104325000-104334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:104325200-104331200	Weak transcription	Fetal Brain Male	brain
38	chr9:104325200-104334200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:104325200-104344400	Weak transcription	NHLF	lung
40	chr9:104325200-104350000	Weak transcription	HSMMtube	muscle
41	chr9:104325600-104331400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr9:104325800-104331400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:104326200-104332000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr9:104326400-104331800	Strong transcription	HSMM	muscle
45	chr9:104326400-104332400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:104326800-104332200	Weak transcription	Spleen	Spleen
47	chr9:104326800-104332800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:104326800-104334200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:104326800-104337000	Weak transcription	Esophagus	oesophagus
50	chr9:104327000-104332000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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