Variant report

Variant	rs62064156
Chromosome Location	chr17:17822480-17822481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17817435..17819884-chr17:17820293..17824175,3	MCF-7	breast:
2	chr17:17793751..17795164-chr17:17822155..17823525,15	MCF-7	breast:
3	chr17:17794055..17794969-chr17:17822251..17823166,7	MCF-7	breast:
4	chr17:17715227..17716202-chr17:17822198..17823180,4	K562	blood:
5	chr17:17820370..17822488-chr17:17946052..17948620,2	K562	blood:
6	chr17:17742750..17744659-chr17:17821292..17823063,2	K562	blood:
7	chr17:17254622..17256313-chr17:17821466..17824370,2	K562	blood:
8	chr17:17783462..17784381-chr17:17822416..17823137,2	MCF-7	breast:
9	chr17:17815608..17820314-chr17:17821294..17824866,4	MCF-7	breast:

No data

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10048206	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11078400	0.82[EUR][1000 genomes]
rs11078403	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11078404	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078405	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078406	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11078407	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11078408	0.81[EUR][1000 genomes]
rs11650649	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11650890	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11656840	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11657074	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11657773	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11657845	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11658309	0.81[AMR][1000 genomes]
rs11869536	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11870660	0.82[EUR][1000 genomes]
rs11871899	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452219	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452254	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600546	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12603148	0.96[EUR][1000 genomes]
rs12936037	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12941039	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12943500	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1889014	0.91[ASN][1000 genomes]
rs2350977	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28428991	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35451946	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4077198	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4077828	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4244602	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4257260	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4299203	0.82[EUR][1000 genomes]
rs4321247	0.91[EUR][1000 genomes]
rs4341796	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343339	0.96[EUR][1000 genomes]
rs4413022	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4414547	0.96[EUR][1000 genomes]
rs4470201	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4471742	0.82[EUR][1000 genomes]
rs4534911	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553680	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616340	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924823	0.81[EUR][1000 genomes]
rs4925123	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925125	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4925126	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4925129	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925130	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57728924	0.82[EUR][1000 genomes]
rs62064158	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62072049	0.85[EUR][1000 genomes]
rs6502619	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6502622	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6502624	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6502625	0.88[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	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502629	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66531105	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67253360	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7207043	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7207395	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208190	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7213225	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7214002	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7214536	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7219320	0.81[EUR][1000 genomes]
rs7222480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224815	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7503334	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065416	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8065497	0.91[ASN][1000 genomes]
rs8065563	0.86[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	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8068175	0.82[EUR][1000 genomes]
rs8068820	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8070128	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070624	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070722	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8070748	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8073001	0.94[AMR][1000 genomes];0.98[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	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8078138	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078583	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079321	0.81[EUR][1000 genomes]
rs8080061	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8080823	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950966	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[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	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9895750	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9904163	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9905284	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9907246	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9907287	0.81[EUR][1000 genomes]
rs9908017	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9908299	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9908832	0.95[EUR][1000 genomes]
rs9912895	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9913724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9914127	0.81[EUR][1000 genomes]

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
rs62064156	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17810600-17822800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
4	chr17:17814800-17833200	Weak transcription	Aorta	Aorta
5	chr17:17817600-17831600	Weak transcription	Fetal Brain Female	brain
6	chr17:17817800-17823000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:17817800-17824400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:17817800-17824400	Weak transcription	Ovary	ovary
9	chr17:17817800-17838200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr17:17818000-17822800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:17818000-17822800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:17818000-17823000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17818000-17823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:17818000-17824400	Weak transcription	Fetal Kidney	kidney
15	chr17:17818000-17824400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr17:17818000-17824600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:17818000-17824600	Weak transcription	Small Intestine	intestine
18	chr17:17818200-17822800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:17818200-17822800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:17818200-17822800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr17:17818200-17824200	Weak transcription	Adipose Nuclei	Adipose
22	chr17:17818600-17824200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:17819000-17822600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:17820800-17824200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:17820800-17826400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:17821000-17828400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:17821200-17829000	Enhancers	NHEK	skin
28	chr17:17821600-17822800	Enhancers	A549	lung
29	chr17:17821600-17823600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:17821600-17824800	Weak transcription	Pancreas	Pancrea
31	chr17:17821600-17827200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:17821800-17823200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr17:17821800-17823400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:17821800-17823600	Enhancers	Fetal Heart	heart
35	chr17:17821800-17824400	Weak transcription	Lung	lung
36	chr17:17821800-17824600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:17821800-17826400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:17821800-17827200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:17821800-17827200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:17821800-17828400	Enhancers	HMEC	breast
41	chr17:17822000-17822800	Enhancers	Right Ventricle	heart
42	chr17:17822000-17823200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:17822000-17823400	Enhancers	Fetal Muscle Leg	muscle
44	chr17:17822000-17823400	Enhancers	Left Ventricle	heart
45	chr17:17822000-17823400	Enhancers	K562	blood
46	chr17:17822000-17823600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr17:17822000-17824200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr17:17822000-17824400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:17822000-17824800	Enhancers	HSMMtube	muscle
50	chr17:17822000-17826600	Enhancers	NHDF-Ad	bronchial

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