Variant report

Variant	rs10761247
Chromosome Location	chr9:96403367-96403368
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	chr20:55837305..55839406-chr9:96402337..96403887,2	MCF-7	breast:
2	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10761245	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs10761248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761249	0.82[CHB][hapmap]
rs10761254	0.91[CHB][hapmap];0.81[GIH][hapmap]
rs10821184	0.83[CHB][hapmap]
rs10821191	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs10821196	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs10992807	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs10992854	0.95[CHB][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap]
rs11534279	0.87[CHB][hapmap];0.91[CHD][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap]
rs12002044	0.87[CHB][hapmap]
rs1806458	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs2001589	0.87[CHB][hapmap];0.85[CHD][hapmap]
rs2001994	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2398855	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2398856	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs3750354	0.87[CHB][hapmap]
rs3750358	0.95[CHB][hapmap];0.81[GIH][hapmap]
rs3750362	0.95[CHB][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap]
rs4743931	0.89[CHB][hapmap]
rs6479499	0.95[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes]
rs7024028	0.95[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap]
rs7849752	0.82[CHB][hapmap]
rs7851178	0.82[CHB][hapmap]
rs7864397	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs7868191	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893585	chr9:96363859-96403367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv893587	chr9:96383605-96451784	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10761247	CENPP	cis	parietal	SCAN
rs10761247	PHF2	cis	parietal	SCAN
rs10761247	FAM120A	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96380200-96411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:96384600-96412200	Weak transcription	Stomach Mucosa	stomach
3	chr9:96387000-96411800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:96390200-96405400	Weak transcription	HepG2	liver
5	chr9:96392000-96403400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:96392200-96403800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr9:96392200-96412000	Weak transcription	HMEC	breast
8	chr9:96392200-96423600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:96393600-96406600	Weak transcription	GM12878-XiMat	blood
10	chr9:96396400-96412000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:96397200-96407800	Weak transcription	NHEK	skin
12	chr9:96398000-96403400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:96398200-96411200	Weak transcription	HUVEC	blood vessel
14	chr9:96398200-96413800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr9:96399000-96423400	Strong transcription	Fetal Intestine Large	intestine
16	chr9:96399200-96406200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:96399400-96405400	Weak transcription	Esophagus	oesophagus
18	chr9:96399400-96423600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr9:96400000-96403600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:96400000-96405400	Weak transcription	Right Ventricle	heart
21	chr9:96400000-96405400	Weak transcription	NHLF	lung
22	chr9:96400000-96405600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:96400000-96405800	Weak transcription	Colonic Mucosa	Colon
24	chr9:96400200-96403400	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:96400200-96403400	Weak transcription	HSMMtube	muscle
26	chr9:96400200-96405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:96400200-96405400	Weak transcription	Gastric	stomach
28	chr9:96400200-96405400	Weak transcription	Spleen	Spleen
29	chr9:96400200-96405600	Weak transcription	Aorta	Aorta
30	chr9:96400200-96412000	Weak transcription	Hela-S3	cervix
31	chr9:96400400-96405000	Weak transcription	Fetal Thymus	thymus
32	chr9:96400400-96405200	Weak transcription	NH-A	brain
33	chr9:96400400-96405400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:96400400-96405400	Weak transcription	Brain Angular Gyrus	brain
35	chr9:96400400-96405400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr9:96400400-96405400	Weak transcription	Left Ventricle	heart
37	chr9:96400400-96405400	Weak transcription	Thymus	Thymus
38	chr9:96400400-96405600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:96400400-96406800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:96400400-96407200	Weak transcription	Brain Substantia Nigra	brain
41	chr9:96400400-96407200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:96400400-96412000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:96400400-96412000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr9:96400400-96430600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr9:96400600-96403600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr9:96400600-96404800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr9:96400600-96405400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:96400600-96405400	Weak transcription	Dnd41	blood
49	chr9:96400600-96407600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:96400600-96411600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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