Variant report

Variant	rs3744113
Chromosome Location	chr17:17748645-17748646
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	chr17:17748143..17750438-chr17:17769133..17772614,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1052299	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11078399	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11078400	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11078406	0.80[AMR][1000 genomes]
rs1108646	0.81[EUR][1000 genomes]
rs1108648	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11650649	0.82[EUR][1000 genomes]
rs11650890	0.81[EUR][1000 genomes]
rs11652144	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11656665	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11657074	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11657130	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11657423	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11658309	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12450799	0.81[EUR][1000 genomes]
rs12936037	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12936927	0.83[EUR][1000 genomes]
rs12938501	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12941039	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12941550	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12946746	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12952723	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16960744	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1889014	0.83[EUR][1000 genomes]
rs1889018	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2236513	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3183702	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35451946	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3744115	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924821	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4924822	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924823	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4925115	0.81[EUR][1000 genomes]
rs4925116	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4925119	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4925120	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4925123	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4925125	0.86[AMR][1000 genomes]
rs4925126	0.82[AMR][1000 genomes]
rs58638639	0.81[EUR][1000 genomes]
rs6502618	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6502619	0.81[EUR][1000 genomes]
rs7359509	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7501812	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7503334	0.81[EUR][1000 genomes]
rs7503747	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8065563	0.81[EUR][1000 genomes]
rs8066560	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8078756	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8079321	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8080061	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs950966	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9891957	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9893690	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9894257	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9895335	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9895750	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9899634	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9902941	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9906673	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9907246	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9907287	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9908017	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9908299	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9911281	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9915248	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915776	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
24	nsv907763	chr17:17673824-17749822	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
25	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	70 gene(s)	inside rSNPs	diseases
26	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
27	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
28	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3744113	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17743000-17753000	Weak transcription	Fetal Kidney	kidney
2	chr17:17744000-17749200	Weak transcription	Fetal Brain Female	brain
3	chr17:17744000-17749800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:17744000-17749800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:17744000-17749800	Weak transcription	Ovary	ovary
6	chr17:17744000-17750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:17744200-17749000	Enhancers	Right Ventricle	heart
8	chr17:17744200-17749600	Weak transcription	Thymus	Thymus
9	chr17:17744400-17749800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:17744400-17750400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:17744400-17751800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:17744400-17752400	Weak transcription	Primary B cells from cord blood	blood
13	chr17:17744400-17756200	Weak transcription	Aorta	Aorta
14	chr17:17744400-17771400	Weak transcription	Fetal Brain Male	brain
15	chr17:17744600-17749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:17744600-17749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:17744600-17749400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr17:17744600-17749800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:17744600-17749800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:17744600-17750200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:17744600-17750400	Weak transcription	Primary T cells from cord blood	blood
22	chr17:17744600-17750600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:17744600-17752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:17744600-17752600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:17744800-17748800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:17744800-17749000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:17744800-17749200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:17744800-17749400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr17:17744800-17749600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:17744800-17749800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:17744800-17750000	Weak transcription	Colon Smooth Muscle	Colon
32	chr17:17744800-17751400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:17744800-17751800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:17744800-17753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:17744800-17753000	Weak transcription	NH-A	brain
36	chr17:17745000-17749400	Weak transcription	Osteobl	bone
37	chr17:17745000-17750000	Weak transcription	Colonic Mucosa	Colon
38	chr17:17745000-17752000	Weak transcription	HSMM	muscle
39	chr17:17745000-17752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr17:17745200-17748800	Weak transcription	Fetal Intestine Large	intestine
41	chr17:17745200-17748800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:17745200-17751600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:17745200-17751800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:17745200-17753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr17:17745200-17753800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr17:17745200-17770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:17745400-17749200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr17:17745400-17749400	Weak transcription	NHLF	lung
49	chr17:17745400-17749600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:17745400-17752400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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