Variant report

Variant	rs752579
Chromosome Location	chr17:17660347-17660348
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17659285..17661172-chr17:17667649..17669236,2	MCF-7	breast:
2	chr17:17659050..17660639-chr17:17721346..17723178,2	MCF-7	breast:
3	chr17:17658765..17660806-chr17:17665876..17668374,2	MCF-7	breast:
4	chr17:17655777..17657472-chr17:17659446..17661430,2	K562	blood:
5	chr17:17655972..17658628-chr17:17659930..17661835,2	K562	blood:
6	chr17:17653860..17663088-chr17:17683787..17689208,13	MCF-7	breast:
7	chr17:17632855..17634873-chr17:17660270..17661938,2	MCF-7	breast:
8	chr17:17659432..17661536-chr17:17665485..17667316,2	MCF-7	breast:
9	chr17:17659679..17662108-chr17:17664180..17666491,2	K562	blood:
10	chr17:17585158..17586817-chr17:17658839..17660496,2	MCF-7	breast:
11	chr17:17653399..17659141-chr17:17659467..17667043,10	MCF-7	breast:
12	chr17:17623843..17637985-chr17:17653006..17664308,33	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11656775	0.85[CEU][hapmap]
rs12940418	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12940675	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12945601	0.90[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12950737	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12952495	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4925108	0.90[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4925109	0.90[CEU][hapmap]
rs55767800	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs941444	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs941446	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs941448	0.85[CEU][hapmap]
rs9900803	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	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
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
18	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
21	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
22	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv532109	chr17:17630064-17700497	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
25	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
27	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
28	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs752579	SREBF1	cis	Liver	GTEx
rs752579	SREBF1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17651600-17663600	Enhancers	Fetal Heart	heart
2	chr17:17656200-17660600	Enhancers	Left Ventricle	heart
3	chr17:17656400-17660800	Enhancers	Right Ventricle	heart
4	chr17:17656600-17660400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr17:17656600-17660400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:17656600-17660800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr17:17656600-17661200	Weak transcription	Fetal Brain Male	brain
8	chr17:17656600-17662400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:17656600-17665600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:17656600-17682200	Weak transcription	Small Intestine	intestine
11	chr17:17656800-17660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr17:17656800-17660600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:17656800-17660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:17656800-17661400	Weak transcription	NHLF	lung
15	chr17:17656800-17668800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:17656800-17669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:17656800-17669800	Weak transcription	Colonic Mucosa	Colon
18	chr17:17657000-17660800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:17657000-17661800	Weak transcription	Brain Angular Gyrus	brain
20	chr17:17657000-17663600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:17657000-17666200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:17657000-17666400	Weak transcription	Adipose Nuclei	Adipose
23	chr17:17657000-17670400	Weak transcription	NH-A	brain
24	chr17:17657000-17677400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:17657200-17660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:17657200-17662600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:17657200-17664400	Weak transcription	HepG2	liver
28	chr17:17657200-17669600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:17657200-17675200	Weak transcription	Osteobl	bone
30	chr17:17657400-17660400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:17657400-17660600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:17657400-17660600	Enhancers	Primary B cells from cord blood	blood
33	chr17:17657400-17660800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr17:17657400-17662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:17657400-17662800	Weak transcription	HMEC	breast
36	chr17:17657400-17664200	Strong transcription	Dnd41	blood
37	chr17:17657400-17666400	Weak transcription	HSMMtube	muscle
38	chr17:17657400-17666800	Weak transcription	HSMM	muscle
39	chr17:17657400-17667200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:17657400-17668600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:17657400-17668800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr17:17657400-17671000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr17:17657800-17660600	Genic enhancers	Fetal Thymus	thymus
44	chr17:17657800-17664000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:17658000-17660400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:17658200-17660800	Enhancers	Right Atrium	heart
47	chr17:17658200-17664000	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr17:17658400-17663000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:17658600-17660400	Genic enhancers	Thymus	Thymus
50	chr17:17658600-17661000	Weak transcription	Stomach Smooth Muscle	stomach

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