Variant report

Variant	rs7215524
Chromosome Location	chr17:17926605-17926606
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	chr17:17922966..17925112-chr17:17926314..17928190,2	K562	blood:

Variant related genes	Relation type
ENSG00000171953	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs11078408	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078409	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11650021	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11658257	0.97[ASN][1000 genomes]
rs11869491	0.91[EUR][1000 genomes]
rs11870660	0.82[EUR][1000 genomes]
rs11871231	0.92[EUR][1000 genomes]
rs12150369	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12603148	0.84[AFR][1000 genomes]
rs12939020	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12940282	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28537385	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28555361	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2955350	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955352	0.90[ASN][1000 genomes]
rs2955353	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955354	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955355	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955356	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955357	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955358	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955359	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955368	0.93[EUR][1000 genomes]
rs2955369	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2955370	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955372	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955377	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955378	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955380	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955381	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955383	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2955384	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955385	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2974998	0.82[EUR][1000 genomes]
rs2974999	0.81[EUR][1000 genomes]
rs3935505	0.97[ASN][1000 genomes]
rs3935506	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4072738	0.92[EUR][1000 genomes]
rs4072739	0.92[EUR][1000 genomes]
rs4299203	0.82[EUR][1000 genomes]
rs4365346	0.81[EUR][1000 genomes]
rs4365348	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4368210	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410135	0.82[EUR][1000 genomes]
rs4426402	0.81[EUR][1000 genomes]
rs4459604	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4471742	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4506969	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4584886	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635395	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4643387	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4924832	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4925133	0.80[EUR][1000 genomes]
rs4925135	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925136	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57728924	0.82[EUR][1000 genomes]
rs59518074	0.82[EUR][1000 genomes]
rs62072048	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62072049	0.81[EUR][1000 genomes]
rs62072050	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62073573	0.82[EUR][1000 genomes]
rs6502631	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6502632	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502633	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502634	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502636	0.82[EUR][1000 genomes]
rs6502637	0.81[EUR][1000 genomes]
rs7207461	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207821	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209003	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7210400	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7211714	0.81[EUR][1000 genomes]
rs7212167	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7212447	0.81[EUR][1000 genomes]
rs7214002	0.85[AFR][1000 genomes]
rs7219320	0.82[EUR][1000 genomes]
rs7219324	0.93[EUR][1000 genomes]
rs7223696	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7224047	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7406744	0.80[EUR][1000 genomes]
rs7406982	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7503738	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066764	0.81[EUR][1000 genomes]
rs8068175	0.82[EUR][1000 genomes]
rs8069811	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8070731	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8071238	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8075189	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8076747	0.83[AFR][1000 genomes]
rs8080334	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8080602	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082590	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs854763	0.80[EUR][1000 genomes]
rs9303144	0.80[EUR][1000 genomes]
rs9894138	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9896837	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897761	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9899355	0.92[EUR][1000 genomes]
rs9908832	0.84[AFR][1000 genomes]
rs9911850	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9912096	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913277	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9914127	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[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
rs7215524	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	chr17:17906600-17929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:17908400-17928400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:17908600-17932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:17910800-17929200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:17911000-17930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:17912000-17928800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:17912000-17930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:17912400-17928400	Weak transcription	NHDF-Ad	bronchial
11	chr17:17913000-17928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:17913000-17928200	Weak transcription	HMEC	breast
13	chr17:17913200-17928600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:17915000-17929000	Weak transcription	A549	lung
15	chr17:17916400-17936600	Weak transcription	Fetal Kidney	kidney
16	chr17:17917400-17928400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr17:17917400-17936600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:17917800-17929200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:17918000-17928200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:17918000-17929400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17918000-17932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:17918000-17932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:17920600-17931800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr17:17920600-17932600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:17921000-17927600	Weak transcription	Esophagus	oesophagus
26	chr17:17921000-17928000	Strong transcription	Fetal Thymus	thymus
27	chr17:17921000-17940000	Weak transcription	Fetal Brain Male	brain
28	chr17:17921200-17928000	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:17921200-17930600	Weak transcription	Psoas Muscle	Psoas
30	chr17:17921600-17928600	Weak transcription	Osteobl	bone
31	chr17:17921800-17928800	Weak transcription	K562	blood
32	chr17:17921800-17928800	Weak transcription	NH-A	brain
33	chr17:17922000-17928800	Weak transcription	HUVEC	blood vessel
34	chr17:17922000-17929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:17922200-17928800	Weak transcription	Right Atrium	heart
36	chr17:17922200-17941000	Weak transcription	Small Intestine	intestine
37	chr17:17922400-17927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:17922800-17929600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:17922800-17931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:17923000-17929400	Weak transcription	Right Ventricle	heart
41	chr17:17923400-17929400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:17923600-17928200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:17923800-17941400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr17:17924000-17928800	Weak transcription	Fetal Heart	heart
45	chr17:17924000-17929000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr17:17924800-17928600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr17:17925000-17928600	Weak transcription	NHLF	lung
48	chr17:17925000-17929000	Weak transcription	HSMMtube	muscle
49	chr17:17925200-17927000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:17925200-17927000	Weak transcription	Brain Germinal Matrix	brain

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