Variant report

Variant	rs2955350
Chromosome Location	chr17:17953548-17953549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17943464..17946446-chr17:17950718..17954584,5	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1008135	0.83[EUR][1000 genomes]
rs1101727	0.83[EUR][1000 genomes]
rs11078408	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11078409	0.90[ASN][1000 genomes]
rs11078410	0.81[EUR][1000 genomes]
rs11650021	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11658257	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11869491	0.86[EUR][1000 genomes]
rs11871231	0.87[EUR][1000 genomes]
rs12150369	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12939020	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12940282	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12948749	0.83[EUR][1000 genomes]
rs2056842	0.82[EUR][1000 genomes]
rs28537385	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28555361	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2955352	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955355	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955356	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955357	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955358	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955365	0.83[EUR][1000 genomes]
rs2955366	0.83[EUR][1000 genomes]
rs2955368	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955369	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2955370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955371	0.82[EUR][1000 genomes]
rs2955372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955373	0.84[AMR][1000 genomes]
rs2955377	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955378	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955380	0.95[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];0.98[EUR][1000 genomes]
rs2955384	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955385	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2974998	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2974999	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3935505	0.97[ASN][1000 genomes]
rs3935506	0.97[ASN][1000 genomes]
rs4072738	0.87[EUR][1000 genomes]
rs4072739	0.87[EUR][1000 genomes]
rs4365346	0.86[EUR][1000 genomes]
rs4365348	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4368210	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410135	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4426402	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4459604	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4471742	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4506967	0.82[EUR][1000 genomes]
rs4506969	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4561528	0.84[EUR][1000 genomes]
rs4584886	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635395	0.82[ASN][1000 genomes]
rs4643387	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924832	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4925135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925136	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59518074	0.87[EUR][1000 genomes]
rs62072048	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62072050	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62073573	0.87[EUR][1000 genomes]
rs6502631	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6502632	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502633	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502634	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502636	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6502637	0.86[EUR][1000 genomes]
rs6826	0.84[EUR][1000 genomes]
rs712267	0.83[EUR][1000 genomes]
rs712268	0.83[EUR][1000 genomes]
rs7207461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207821	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209003	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7210400	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7211714	0.85[EUR][1000 genomes]
rs7212167	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7212447	0.86[EUR][1000 genomes]
rs7215524	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721669	0.84[EUR][1000 genomes]
rs7219324	0.88[EUR][1000 genomes]
rs7223696	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7224047	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7406744	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7406982	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs741782	0.83[EUR][1000 genomes]
rs7503738	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066764	0.85[EUR][1000 genomes]
rs8069811	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8070731	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8071238	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8075189	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8080334	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082590	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs854763	0.85[EUR][1000 genomes]
rs854767	0.83[EUR][1000 genomes]
rs854768	0.83[EUR][1000 genomes]
rs854769	0.83[EUR][1000 genomes]
rs854770	0.83[EUR][1000 genomes]
rs854789	0.83[EUR][1000 genomes]
rs854790	0.82[EUR][1000 genomes]
rs854791	0.84[EUR][1000 genomes]
rs854808	0.83[EUR][1000 genomes]
rs854809	0.83[EUR][1000 genomes]
rs854814	0.84[EUR][1000 genomes]
rs854817	0.83[EUR][1000 genomes]
rs854818	0.82[EUR][1000 genomes]
rs9303144	0.85[EUR][1000 genomes]
rs9894138	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9896837	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897761	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9899355	0.87[EUR][1000 genomes]
rs9911850	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9912096	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9913277	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9914127	0.81[AMR][1000 genomes];0.97[ASN][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	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
7	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2955350	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17944200-17956000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr17:17944200-17957200	Weak transcription	NH-A	brain
5	chr17:17944200-17957400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:17944200-17957400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:17944400-17957200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:17944400-17957200	Weak transcription	Gastric	stomach
10	chr17:17944400-17957200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:17944400-17957600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:17944400-17961800	Weak transcription	Fetal Kidney	kidney
13	chr17:17944400-17962000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:17944600-17957200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:17945000-17957000	Weak transcription	Fetal Lung	lung
17	chr17:17945000-17957400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:17945000-17960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:17945200-17965200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:17945400-17955400	Weak transcription	HSMMtube	muscle
21	chr17:17945400-17957200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:17945400-17957600	Weak transcription	Pancreas	Pancrea
23	chr17:17945400-17957600	Weak transcription	GM12878-XiMat	blood
24	chr17:17945400-17959600	Weak transcription	Esophagus	oesophagus
25	chr17:17945400-17959800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:17945400-17967200	Weak transcription	Small Intestine	intestine
27	chr17:17945800-17957200	Weak transcription	HMEC	breast
28	chr17:17945800-17957600	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:17945800-17957600	Weak transcription	NHLF	lung
30	chr17:17946000-17956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:17946000-17957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:17946600-17954400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:17946800-17957400	Weak transcription	HUVEC	blood vessel
34	chr17:17947000-17957200	Weak transcription	NHDF-Ad	bronchial
35	chr17:17947000-17974400	Weak transcription	Fetal Heart	heart
36	chr17:17947400-17954000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr17:17947400-17954200	Strong transcription	Fetal Intestine Small	intestine
38	chr17:17947400-17959600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:17947400-17963400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:17947600-17954400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:17948400-17954200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:17948600-17954200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:17948600-17957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:17948600-17964400	Weak transcription	K562	blood
45	chr17:17949000-17954600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:17949200-17957400	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:17949600-17959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:17949800-17957000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr17:17949800-17957200	Weak transcription	Primary B cells from cord blood	blood
50	chr17:17950000-17955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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