Variant report

Variant	rs8078583
Chromosome Location	chr17:17811465-17811466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17799113..17802641-chr17:17808261..17812088,4	K562	blood:
2	chr17:17732703..17734829-chr17:17808950..17811778,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10048206	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1052299	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11078400	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11078403	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11078404	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11078405	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078406	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078407	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078408	0.81[EUR][1000 genomes]
rs1108648	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11650649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11650890	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652881	0.82[JPT][hapmap]
rs11656665	0.82[JPT][hapmap]
rs11656840	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11657074	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11657423	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11657773	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11657845	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11658309	0.85[AMR][1000 genomes]
rs11869536	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11870660	0.81[EUR][1000 genomes]
rs11871899	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452219	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452254	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600546	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12603148	0.96[EUR][1000 genomes]
rs12936037	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12941039	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12943500	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12953299	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs16960744	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs1889014	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1889018	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2236513	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs2350976	0.82[JPT][hapmap]
rs2350977	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28428991	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2955371	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs2955382	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs3183702	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs35451946	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3744115	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3818717	0.82[JPT][hapmap]
rs4077198	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4077828	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4244602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4257260	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4299203	0.81[EUR][1000 genomes]
rs4321247	0.91[EUR][1000 genomes]
rs4341796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343339	0.95[EUR][1000 genomes]
rs4413022	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4414547	0.96[EUR][1000 genomes]
rs4470201	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4471742	0.81[EUR][1000 genomes]
rs4534911	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553680	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616340	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924822	0.82[JPT][hapmap]
rs4924823	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4925120	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs4925123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925125	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4925126	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4925129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925138	0.82[JPT][hapmap]
rs5002487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57728924	0.81[EUR][1000 genomes]
rs62064156	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064158	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62072049	0.84[EUR][1000 genomes]
rs6502619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6502622	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502624	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502625	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502626	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502627	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502629	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66531105	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67253360	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7207043	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7207395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208190	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7213225	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7214002	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7214536	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7219320	0.81[EUR][1000 genomes]
rs7222480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224815	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359509	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7501812	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7503334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065416	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8065497	0.91[ASN][1000 genomes]
rs8065563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065970	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8066982	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8068175	0.81[EUR][1000 genomes]
rs8068820	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8070128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070624	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070722	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8070748	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8073001	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8075965	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8076747	0.94[EUR][1000 genomes]
rs8077338	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077530	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8078105	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8078138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079321	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8080061	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8080823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854762	0.82[JPT][hapmap]
rs950966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9635697	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9635698	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9890341	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9891957	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9895750	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9899634	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs9902941	0.82[JPT][hapmap]
rs9904163	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9905284	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9907246	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9907287	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs9908017	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9908299	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9908832	0.94[EUR][1000 genomes]
rs9911281	0.82[AMR][1000 genomes]
rs9912895	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9913724	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9914127	0.81[EUR][1000 genomes]
rs9915248	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
7	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8078583	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
2	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17797000-17817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:17801200-17817200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:17802400-17817000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:17802600-17817600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17802600-17820000	Weak transcription	Primary B cells from cord blood	blood
9	chr17:17802600-17822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:17802800-17812400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:17804800-17814000	Weak transcription	Fetal Thymus	thymus
12	chr17:17804800-17814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:17805000-17813400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:17805000-17817400	Weak transcription	Small Intestine	intestine
15	chr17:17806000-17814400	Weak transcription	Stomach Mucosa	stomach
16	chr17:17807200-17816800	Weak transcription	Hela-S3	cervix
17	chr17:17808400-17813400	Weak transcription	Psoas Muscle	Psoas
18	chr17:17809200-17814000	Weak transcription	Aorta	Aorta
19	chr17:17809400-17812600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:17809600-17811600	Enhancers	HSMMtube	muscle
21	chr17:17810000-17817000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:17810000-17817000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr17:17810200-17813400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:17810200-17815000	Enhancers	K562	blood
25	chr17:17810400-17813400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:17810400-17814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:17810400-17814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:17810400-17814400	Weak transcription	Pancreas	Pancrea
29	chr17:17810400-17814400	Weak transcription	A549	lung
30	chr17:17810400-17814600	Weak transcription	Fetal Intestine Large	intestine
31	chr17:17810400-17817000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:17810400-17817000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:17810400-17817000	Weak transcription	Thymus	Thymus
34	chr17:17810400-17817200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr17:17810600-17811600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:17810600-17812600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr17:17810600-17813600	Weak transcription	Placenta	Placenta
38	chr17:17810600-17814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:17810600-17814200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:17810600-17814200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:17810600-17817000	Weak transcription	Osteobl	bone
42	chr17:17810600-17817200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:17810600-17817200	Weak transcription	Gastric	stomach
44	chr17:17810600-17817400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr17:17810600-17817400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:17810600-17822800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:17810800-17813400	Weak transcription	Adipose Nuclei	Adipose
48	chr17:17810800-17813400	Weak transcription	Fetal Heart	heart
49	chr17:17810800-17813400	Weak transcription	Fetal Muscle Leg	muscle
50	chr17:17810800-17813400	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links