Variant report

Variant	rs7853195
Chromosome Location	chr9:97685298-97685299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97622419..97625186-chr9:97683983..97685680,2	MCF-7	breast:
2	chr9:97684533..97687061-chr9:97864778..97867834,3	MCF-7	breast:
3	chr9:97684569..97686306-chr9:97814006..97816839,2	MCF-7	breast:
4	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
5	chr9:97523331..97524905-chr9:97684127..97686565,2	MCF-7	breast:
6	chr9:97684190..97685424-chr9:97768217..97769091,3	MCF-7	breast:
7	chr9:97685017..97689714-chr9:97737820..97743340,6	MCF-7	breast:
8	chr9:97655079..97657734-chr9:97685295..97688138,2	MCF-7	breast:
9	chr9:97684453..97687041-chr9:97818423..97820437,2	MCF-7	breast:
10	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
11	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
12	chr9:97399742..97402220-chr9:97684654..97686777,3	MCF-7	breast:
13	chr9:97678927..97686235-chr9:97889117..97896057,11	MCF-7	breast:
14	chr9:97488242..97490127-chr9:97683994..97686777,2	MCF-7	breast:
15	chr9:97683938..97686249-chr9:97862761..97864573,2	MCF-7	breast:
16	chr9:97683719..97685976-chr9:97715516..97717826,3	MCF-7	breast:
17	chr9:97444268..97446694-chr9:97684969..97686706,2	MCF-7	breast:
18	chr9:97558473..97564935-chr9:97678907..97687123,11	MCF-7	breast:
19	chr9:97530626..97534561-chr9:97683586..97686603,3	MCF-7	breast:
20	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
21	chr9:97649888..97652305-chr9:97683979..97686393,2	MCF-7	breast:
22	chr9:97684145..97686309-chr9:97748541..97750239,2	K562	blood:
23	chr9:97684545..97686824-chr9:97775736..97778067,2	MCF-7	breast:
24	chr9:97622455..97625860-chr9:97683870..97686784,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230815	Chromatin interaction
ENSG00000165140	Chromatin interaction
ENSG00000148120	Chromatin interaction
ENSG00000158169	Chromatin interaction
ENSG00000252153	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10491560	0.84[YRI][hapmap]
rs10821415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10993365	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10993372	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10993377	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993394	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993397	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993398	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993418	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1123534	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11787821	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12235316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs183066	0.92[CEU][hapmap]
rs2183958	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2584806	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs35487382	0.81[EUR][1000 genomes]
rs356131	0.96[CEU][hapmap];0.84[CHB][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap]
rs391784	0.96[CEU][hapmap]
rs4385527	0.96[CEU][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs446540	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs4744378	0.96[CEU][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap]
rs4744403	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4744411	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7851726	0.92[CEU][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs7864171	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7865239	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7866848	0.92[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7853195	P2RX5	trans	lymphoblastoid	seeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
2	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
3	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:97677400-97688600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:97679000-97686400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr9:97679200-97687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:97679400-97687000	Enhancers	Fetal Heart	heart
8	chr9:97679800-97686200	Weak transcription	Fetal Thymus	thymus
9	chr9:97680000-97687600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:97680200-97688000	Weak transcription	Gastric	stomach
11	chr9:97680400-97685800	Enhancers	Right Ventricle	heart
12	chr9:97680400-97698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:97680600-97686400	Enhancers	Ovary	ovary
14	chr9:97680600-97700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:97681400-97686200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:97681400-97686600	Enhancers	Right Atrium	heart
17	chr9:97681600-97685800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:97681600-97686000	Enhancers	Left Ventricle	heart
19	chr9:97681600-97686600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:97681600-97686600	Enhancers	Fetal Muscle Leg	muscle
21	chr9:97681600-97686600	Enhancers	Fetal Stomach	stomach
22	chr9:97681800-97685800	Enhancers	Fetal Lung	lung
23	chr9:97682000-97686800	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:97682000-97713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:97682200-97686600	Enhancers	HMEC	breast
26	chr9:97682200-97691200	Enhancers	Placenta	Placenta
27	chr9:97682600-97685600	Flanking Active TSS	A549	lung
28	chr9:97682600-97685800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:97682600-97685800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:97682600-97686200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:97682600-97686200	Enhancers	Fetal Kidney	kidney
32	chr9:97682600-97686400	Enhancers	Brain Angular Gyrus	brain
33	chr9:97682600-97686800	Enhancers	Brain Germinal Matrix	brain
34	chr9:97682600-97686800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:97682800-97685600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:97682800-97686000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:97682800-97686400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:97682800-97686600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:97682800-97686600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:97683000-97686000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:97683000-97686400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:97683000-97686400	Enhancers	Brain Substantia Nigra	brain
43	chr9:97683200-97685800	Enhancers	Adipose Nuclei	Adipose
44	chr9:97683200-97686600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:97683400-97685400	Enhancers	HUVEC	blood vessel
46	chr9:97683400-97685400	Flanking Active TSS	Osteobl	bone
47	chr9:97683600-97686600	Enhancers	Brain Hippocampus Middle	brain
48	chr9:97683800-97685800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:97683800-97686600	Enhancers	Esophagus	oesophagus
50	chr9:97683800-97686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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