Variant report

Variant	rs17171730
Chromosome Location	chr7:40591747-40591748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1000013	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1019018	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10254954	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10256576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10263677	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10429076	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10486810	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10486811	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11973006	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11974322	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11977013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs11980464	0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11982075	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17171727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17171747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1859705	0.81[ASN][1000 genomes]
rs2051919	0.92[CEU][hapmap]
rs2329819	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28657711	0.97[ASN][1000 genomes]
rs4720367	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4720371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4723967	0.89[ASW][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs4723972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs61094306	0.89[EUR][1000 genomes]
rs61107746	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462985	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66582232	0.90[EUR][1000 genomes]
rs66743443	0.94[EUR][1000 genomes]
rs67081175	0.86[EUR][1000 genomes]
rs67156695	0.97[EUR][1000 genomes]
rs67309967	0.97[EUR][1000 genomes]
rs67340458	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68082095	0.89[EUR][1000 genomes]
rs6943787	1.00[ASN][1000 genomes]
rs6945570	0.91[AFR][1000 genomes]
rs6948724	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6948900	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6954401	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6956277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6962853	0.89[EUR][1000 genomes]
rs6977104	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs73122188	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73308289	0.97[ASN][1000 genomes]
rs7459324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7776976	0.92[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7808612	0.89[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs917204	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9632613	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17171730	POLD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40585000-40591800	Weak transcription	Fetal Stomach	stomach
2	chr7:40586600-40591800	Weak transcription	Placenta	Placenta
3	chr7:40590000-40595200	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:40590400-40592200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:40590400-40592600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:40590600-40592200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:40590800-40591800	Enhancers	Primary B cells from cord blood	blood
8	chr7:40590800-40592600	Enhancers	HUVEC	blood vessel
9	chr7:40591000-40591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:40591000-40592200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:40591000-40592200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:40591000-40592200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:40591000-40592200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:40591000-40592200	Enhancers	Fetal Lung	lung
15	chr7:40591000-40592200	Enhancers	NH-A	brain
16	chr7:40591000-40592200	Enhancers	NHDF-Ad	bronchial
17	chr7:40591000-40592200	Enhancers	Osteobl	bone
18	chr7:40591200-40591800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:40591200-40592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:40591200-40592000	Enhancers	Fetal Heart	heart
21	chr7:40591200-40592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:40591200-40592200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:40591200-40592200	Enhancers	Fetal Kidney	kidney
24	chr7:40591200-40592200	Enhancers	HMEC	breast
25	chr7:40591200-40592200	Enhancers	HSMMtube	muscle
26	chr7:40591200-40592200	Enhancers	NHLF	lung
27	chr7:40591200-40592400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:40591200-40592400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:40591200-40592600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:40591200-40592600	Enhancers	HSMM	muscle
31	chr7:40591400-40591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:40591400-40591800	Enhancers	Aorta	Aorta
33	chr7:40591400-40591800	Enhancers	NHEK	skin
34	chr7:40591400-40592000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:40591400-40592200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:40591400-40592200	Enhancers	Fetal Thymus	thymus
37	chr7:40591400-40592200	Enhancers	Left Ventricle	heart
38	chr7:40591400-40592200	Enhancers	Spleen	Spleen
39	chr7:40591400-40592200	Enhancers	K562	blood
40	chr7:40591400-40592600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:40591400-40592600	Enhancers	Dnd41	blood
42	chr7:40591600-40591800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:40591600-40592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:40591600-40592200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:40591600-40592200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:40591600-40592200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:40591600-40592200	Enhancers	Adipose Nuclei	Adipose
48	chr7:40591600-40592200	Enhancers	Fetal Intestine Large	intestine
49	chr7:40591600-40592200	Enhancers	GM12878-XiMat	blood
50	chr7:40591600-40592400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links