Variant report

Variant	rs2718804
Chromosome Location	chr3:133377782-133377783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133306574..133308924-chr3:133376358..133378163,2	K562	blood:
2	chr3:133333661..133336033-chr3:133377209..133379803,2	K562	blood:
3	chr3:133375493..133377434-chr3:133377728..133380427,4	K562	blood:
4	chr3:133348150..133350073-chr3:133376883..133378735,2	K562	blood:
5	chr3:133291744..133294014-chr3:133376267..133377953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163781	Chromatin interaction
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1373551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382700	1.00[CHB][hapmap]
rs1550743	0.80[ASN][1000 genomes]
rs2718817	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2887747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241354	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4854588	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4854739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854759	1.00[JPT][hapmap]
rs6765260	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6767770	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792846	1.00[CHB][hapmap];0.90[GIH][hapmap]
rs7623155	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177201	1.00[JPT][hapmap]
rs8177220	1.00[JPT][hapmap]
rs9847556	0.89[CEU][hapmap];0.91[GIH][hapmap]
rs9863253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880615	1.00[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2718804	CDV3	Cis_1M	lymphoblastoid	RTeQTL
rs2718804	NCK1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133316600-133378000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:133317000-133378200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:133317200-133378800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:133318400-133378600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:133322200-133378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:133322600-133378800	Weak transcription	Stomach Mucosa	stomach
7	chr3:133323200-133378200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:133323200-133378400	Strong transcription	Fetal Thymus	thymus
9	chr3:133323200-133378800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:133323400-133378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:133323600-133377800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:133323800-133378800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:133324200-133378200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:133332200-133378600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:133333400-133378000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:133334200-133378400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:133337400-133380000	Weak transcription	Pancreas	Pancrea
18	chr3:133339800-133378000	Strong transcription	Primary B cells from cord blood	blood
19	chr3:133340200-133380000	Weak transcription	Right Ventricle	heart
20	chr3:133341200-133378800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:133345600-133380000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:133345600-133380000	Weak transcription	Psoas Muscle	Psoas
23	chr3:133349600-133378200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:133352400-133378200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:133352600-133380000	Weak transcription	Esophagus	oesophagus
26	chr3:133352600-133380000	Weak transcription	Gastric	stomach
27	chr3:133352600-133380000	Weak transcription	Spleen	Spleen
28	chr3:133353000-133379800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:133353800-133378200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:133359600-133377800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:133359600-133380000	Weak transcription	Aorta	Aorta
32	chr3:133363000-133380000	Weak transcription	Small Intestine	intestine
33	chr3:133364000-133379200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:133364000-133379800	Weak transcription	Brain Angular Gyrus	brain
35	chr3:133364200-133378800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:133364800-133379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:133365200-133378200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:133365200-133379000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:133365600-133380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:133366000-133378200	Strong transcription	Liver	Liver
41	chr3:133366200-133378200	Strong transcription	Fetal Brain Female	brain
42	chr3:133368600-133378200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:133369200-133377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:133369200-133379200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:133369600-133379000	Strong transcription	Fetal Intestine Large	intestine
46	chr3:133369800-133379000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:133370200-133378000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:133370400-133377800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:133370400-133377800	Strong transcription	Adipose Nuclei	Adipose
50	chr3:133370400-133377800	Strong transcription	Stomach Smooth Muscle	stomach

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