Variant report

Variant	rs4918972
Chromosome Location	chr10:97579221-97579222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr10:97579122-97581495	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:97577868-97580068	GM12878	blood:	n/a	n/a
3	PML	chr10:97579075-97580607	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:97578826-97579330	GM12891	blood:	n/a	n/a
5	NFIC	chr10:97579204-97580724	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:97577815-97579311	GM12892	blood:	n/a	n/a
7	FOXM1	chr10:97579172-97580034	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:97578869-97579275	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:97579216-97579969	GM12891	blood:	n/a	n/a
10	ATF2	chr10:97579068-97580651	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:97574823-97579264	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:97579128-97580560	GM18505	blood:	n/a	n/a
13	FOXM1	chr10:97579177-97580513	GM12878	blood:	n/a	n/a
14	NFATC1	chr10:97579144-97580700	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97572611..97574483-chr10:97578100..97579949,2	K562	blood:

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10509686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10509695	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10786239	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786247	0.82[CHB][hapmap];0.91[YRI][hapmap]
rs10882644	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10882649	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10882650	0.80[AMR][1000 genomes]
rs10882661	0.91[ASN][1000 genomes]
rs10882671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188407	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11188411	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11188417	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11188437	0.81[EUR][1000 genomes]
rs11188444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188464	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188480	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188484	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11188489	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188501	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11188504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188506	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188509	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188516	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188531	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11593044	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11593761	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597321	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11598475	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12358481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12359343	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs12359366	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12360382	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411569	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1340837	0.83[CEU][hapmap]
rs17382898	0.82[CHB][hapmap]
rs17461546	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17462179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17553401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891535	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935814	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935815	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861153	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861154	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176884	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3181122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3192654	0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258314	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs4320886	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4344425	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4402217	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463786	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512761	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568937	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918955	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4918966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4918970	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801606	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61869573	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61869591	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871796	0.81[AMR][1000 genomes]
rs6946	0.81[AMR][1000 genomes]
rs7072953	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7073010	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7074866	0.86[EUR][1000 genomes]
rs7089668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091088	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895056	0.82[CHB][hapmap]
rs7896876	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918339	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4918972	ENTPD1	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97573200-97580000	Enhancers	HUVEC	blood vessel
2	chr10:97573800-97584400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:97574200-97583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:97574400-97580800	Weak transcription	Small Intestine	intestine
5	chr10:97574400-97581000	Weak transcription	Spleen	Spleen
6	chr10:97574400-97581400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:97574800-97590800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:97575000-97580400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:97575400-97579400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:97575400-97579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:97575600-97596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:97575800-97579600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:97575800-97579800	Weak transcription	Left Ventricle	heart
14	chr10:97575800-97592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:97575800-97597000	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:97576000-97579400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:97576800-97580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:97577000-97580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:97577200-97580000	Enhancers	NHDF-Ad	bronchial
20	chr10:97577200-97587200	Weak transcription	Lung	lung
21	chr10:97577200-97591400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:97577600-97583000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:97577800-97580000	Enhancers	HepG2	liver
24	chr10:97578000-97580600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:97578200-97579600	Enhancers	NH-A	brain
26	chr10:97578200-97579800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr10:97578200-97579800	Enhancers	HMEC	breast
28	chr10:97578200-97579800	Enhancers	NHLF	lung
29	chr10:97578200-97580000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:97578200-97583000	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:97578400-97579400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:97578400-97580400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:97578600-97579400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr10:97578600-97579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:97578600-97580000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:97578600-97581000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:97578600-97588800	Weak transcription	Fetal Stomach	stomach
38	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
39	chr10:97579000-97579600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:97579200-97579400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:97579200-97579400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr10:97579200-97579800	Weak transcription	Osteobl	bone
43	chr10:97579200-97580800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr10:97579200-97580800	Flanking Active TSS	GM12878-XiMat	blood
45	chr10:97579200-97582400	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links