Variant report

Variant	rs10066072
Chromosome Location	chr5:115601291-115601292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10037375	0.89[CHB][hapmap]
rs10054625	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10071788	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs10071906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10074715	0.82[CHB][hapmap]
rs10077356	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs11241377	0.89[CHB][hapmap]
rs11241378	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11241380	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11241382	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs11957549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12186653	0.83[CHB][hapmap]
rs12519211	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs12520608	0.86[ASN][1000 genomes]
rs12652993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363482	0.83[CHB][hapmap]
rs1382338	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs1382342	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs1478425	0.84[ASN][1000 genomes]
rs1478426	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs1541655	0.89[CHB][hapmap]
rs1541656	0.89[CHB][hapmap]
rs1567337	0.82[CHB][hapmap]
rs1592916	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs17139256	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2112570	0.89[CHB][hapmap]
rs2112571	0.85[CEU][hapmap]
rs2161323	0.89[CHB][hapmap]
rs2218883	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2218884	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2416437	0.89[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs28654138	0.85[ASN][1000 genomes]
rs3822368	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4337887	0.86[ASN][1000 genomes]
rs4386763	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466200	0.89[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4466201	0.89[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4559035	0.82[ASN][1000 genomes]
rs4577737	0.85[ASN][1000 genomes]
rs4920908	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4920910	0.85[ASN][1000 genomes]
rs4921086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4921088	0.85[ASN][1000 genomes]
rs55708487	0.86[ASN][1000 genomes]
rs56220729	0.85[ASN][1000 genomes]
rs57298506	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6594961	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs6867113	0.89[CHB][hapmap]
rs6886034	0.89[CHB][hapmap]
rs6896019	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6896118	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7720475	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs7722462	0.83[ASN][1000 genomes]
rs7725671	0.81[ASN][1000 genomes]
rs7729439	0.86[ASN][1000 genomes]
rs9326998	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1019540	chr5:115526349-115610020	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2752058	chr5:115533065-115605198	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1016585	chr5:115533065-115605455	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1032799	chr5:115533065-115609552	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1016924	chr5:115533065-115610020	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv599481	chr5:115540041-115609552	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1024670	chr5:115540586-115615459	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv462401	chr5:115541563-115609552	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv599482	chr5:115541563-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv521050	chr5:115541563-115617297	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv599483	chr5:115561128-115609552	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv882744	chr5:115561128-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv882745	chr5:115561128-115616288	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv34428	chr5:115575513-115626966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv2753795	chr5:115576026-115626966	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv2755740	chr5:115576139-115633474	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	esv2757134	chr5:115578810-115633474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv2759372	chr5:115578810-115633474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv2760969	chr5:115583627-115630890	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv1018714	chr5:115586834-115625245	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv3692873	chr5:115594144-115617297	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv2422101	chr5:115594144-115625228	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv462402	chr5:115596120-115609552	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv599484	chr5:115596120-115609552	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv517704	chr5:115596120-115617297	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv818377	chr5:115596120-115617297	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv2753045	chr5:115596277-115616014	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1029470	chr5:115596277-115621603	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv1017822	chr5:115596277-115625216	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv1019259	chr5:115596277-115625245	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv34342	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv2756234	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv432800	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	nsv1028323	chr5:115596277-115627008	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv1020633	chr5:115596277-115629523	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	nsv1023495	chr5:115596277-115629769	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
44	esv2752575	chr5:115596277-115633474	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	nsv442961	chr5:115596334-115625228	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv1018649	chr5:115596350-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
47	nsv514321	chr5:115596461-115621213	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1015300	chr5:115597953-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
2	chr5:115579600-115610600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:115584800-115603600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:115586600-115603000	Weak transcription	Dnd41	blood
5	chr5:115586800-115608000	Weak transcription	Adipose Nuclei	Adipose
6	chr5:115586800-115609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:115591000-115607200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:115592000-115607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:115593000-115601400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:115595800-115603800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:115597000-115608200	Weak transcription	NHDF-Ad	bronchial
14	chr5:115597800-115603400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:115599000-115601400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:115599600-115602200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:115600800-115601600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:115601000-115601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:115601000-115606200	Weak transcription	Primary T cells from cord blood	blood
22	chr5:115601200-115601600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links