Variant report

Variant	rs6502633
Chromosome Location	chr17:17941037-17941038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:17940861-17941984	GM12878	blood:	n/a	n/a
2	SPI1	chr17:17940906-17941179	GM12891	blood:	n/a	n/a
3	ZNF384	chr17:17940796-17941096	GM12878	blood:	n/a	n/a
4	MAX	chr17:17940849-17941192	NB4	blood:	n/a	n/a
5	SPI1	chr17:17940851-17941098	GM12878	blood:	n/a	n/a
6	SPI1	chr17:17940757-17941227	HL-60	blood:	n/a	n/a
7	SREBP1	chr17:17940846-17943145	GM12878	blood:	n/a	n/a
8	ZNF384	chr17:17940920-17941087	K562	blood:	n/a	n/a

Variant related genes	Relation type
GID4	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1008135	0.81[EUR][1000 genomes]
rs1101727	0.82[EUR][1000 genomes]
rs11078408	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078409	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11650021	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11658257	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11869491	0.87[EUR][1000 genomes]
rs11870660	0.80[EUR][1000 genomes]
rs11871231	0.88[EUR][1000 genomes]
rs12150369	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12603148	0.83[AFR][1000 genomes]
rs12939020	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12940282	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12948749	0.83[EUR][1000 genomes]
rs2056842	0.81[EUR][1000 genomes]
rs28537385	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28555361	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2955350	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955352	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955353	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955354	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955355	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955356	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955357	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955358	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955359	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955365	0.82[EUR][1000 genomes]
rs2955366	0.82[EUR][1000 genomes]
rs2955368	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2955369	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2955370	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955371	0.82[EUR][1000 genomes]
rs2955372	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955373	0.82[AMR][1000 genomes]
rs2955377	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955378	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955380	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955381	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955383	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2974998	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2974999	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3935505	0.97[ASN][1000 genomes]
rs3935506	0.97[ASN][1000 genomes]
rs4072738	0.88[EUR][1000 genomes]
rs4072739	0.88[EUR][1000 genomes]
rs4299203	0.80[EUR][1000 genomes]
rs4365346	0.84[EUR][1000 genomes]
rs4365348	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4368210	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410135	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4426402	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4459604	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4471742	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4506967	0.80[EUR][1000 genomes]
rs4506969	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4561528	0.82[EUR][1000 genomes]
rs4584886	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635395	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4643387	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4924832	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4925135	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925136	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57728924	0.80[EUR][1000 genomes]
rs59518074	0.85[EUR][1000 genomes]
rs62072048	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62072050	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62073573	0.85[EUR][1000 genomes]
rs6502631	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502632	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6502634	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502636	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6502637	0.84[EUR][1000 genomes]
rs6826	0.82[EUR][1000 genomes]
rs712267	0.82[EUR][1000 genomes]
rs712268	0.81[EUR][1000 genomes]
rs7207461	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207821	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209003	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7210400	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7211714	0.84[EUR][1000 genomes]
rs7212167	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7212447	0.84[EUR][1000 genomes]
rs7214002	0.83[AFR][1000 genomes]
rs7215524	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721669	0.83[EUR][1000 genomes]
rs7219324	0.90[EUR][1000 genomes]
rs7223696	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7224047	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7406744	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7406982	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs741782	0.82[EUR][1000 genomes]
rs7503738	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066764	0.84[EUR][1000 genomes]
rs8068175	0.80[EUR][1000 genomes]
rs8069811	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8070731	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8071238	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8075189	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8076747	0.81[AFR][1000 genomes]
rs8080334	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8080602	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082590	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs854763	0.83[EUR][1000 genomes]
rs854767	0.82[EUR][1000 genomes]
rs854768	0.82[EUR][1000 genomes]
rs854769	0.82[EUR][1000 genomes]
rs854770	0.82[EUR][1000 genomes]
rs854789	0.81[EUR][1000 genomes]
rs854790	0.81[EUR][1000 genomes]
rs854791	0.82[EUR][1000 genomes]
rs854808	0.82[EUR][1000 genomes]
rs854809	0.82[EUR][1000 genomes]
rs854814	0.82[EUR][1000 genomes]
rs854817	0.82[EUR][1000 genomes]
rs854818	0.81[EUR][1000 genomes]
rs9303144	0.83[EUR][1000 genomes]
rs9894138	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9896837	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897761	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9899355	0.89[EUR][1000 genomes]
rs9908832	0.83[AFR][1000 genomes]
rs9911850	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9912096	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9913277	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9914127	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6502633	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:17923800-17941400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:17925400-17941200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:17930200-17941200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:17930200-17941200	Weak transcription	Brain Substantia Nigra	brain
7	chr17:17930200-17941400	Weak transcription	HSMMtube	muscle
8	chr17:17930200-17942000	Weak transcription	Aorta	Aorta
9	chr17:17931600-17941600	Weak transcription	Ovary	ovary
10	chr17:17932400-17941400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:17932600-17941200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:17932800-17941600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:17935600-17941200	Weak transcription	HSMM	muscle
14	chr17:17935600-17941200	Weak transcription	Osteobl	bone
15	chr17:17936000-17941400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:17936000-17941600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:17936000-17941600	Weak transcription	Right Atrium	heart
18	chr17:17936800-17941200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:17936800-17941400	Weak transcription	Left Ventricle	heart
20	chr17:17937000-17941200	Weak transcription	A549	lung
21	chr17:17939000-17941200	Enhancers	K562	blood
22	chr17:17939400-17941200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:17939400-17941200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:17939600-17941400	Weak transcription	Fetal Intestine Large	intestine
25	chr17:17939600-17941400	Weak transcription	Gastric	stomach
26	chr17:17940000-17941400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr17:17940000-17941600	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:17940000-17941600	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:17940200-17941200	Enhancers	Primary hematopoietic stem cells	blood
30	chr17:17940400-17941200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:17940400-17941400	Enhancers	Brain Germinal Matrix	brain
32	chr17:17940400-17941400	Enhancers	Fetal Lung	lung
33	chr17:17940400-17941400	Enhancers	Fetal Thymus	thymus
34	chr17:17940400-17941600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr17:17940400-17941600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:17940400-17941600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:17940400-17941800	Enhancers	Placenta	Placenta
38	chr17:17940400-17942000	Enhancers	Spleen	Spleen
39	chr17:17940400-17942000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr17:17940600-17941200	Enhancers	HepG2	liver
41	chr17:17940600-17941400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:17940600-17941400	Enhancers	Liver	Liver
43	chr17:17940600-17941400	Enhancers	Thymus	Thymus
44	chr17:17940600-17941600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:17940600-17941600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr17:17940600-17941600	Enhancers	Fetal Stomach	stomach
47	chr17:17940600-17941600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr17:17940600-17941800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr17:17940600-17941800	Flanking Active TSS	GM12878-XiMat	blood
50	chr17:17940800-17941200	Enhancers	Primary T cells from cord blood	blood

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