Variant report

Variant	rs12150369
Chromosome Location	chr17:17911014-17911015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17910974-17911024	AG10803	skin:	n/a
2	chr17:17910974-17911024	SK-N-SH_RA	brain:	n/a
3	chr17:17910974-17911024	GM12878	blood:	n/a
4	chr17:17910974-17911024	HNPCEpiC	eye:	n/a
5	chr17:17910974-17911024	AG04449	skin:	fetal
6	chr17:17910974-17911024	SK-N-SH	brain:	n/a
7	chr17:17910974-17911024	PrEC	prostate:	n/a
8	chr17:17910974-17911024	T-47D	breast:	n/a
9	chr17:17910974-17911024	NB4	blood:	n/a
10	chr17:17910974-17911024	H1-hESC	embryonic stem cell:	embryo
11	chr17:17910974-17911024	LNCaP	prostate:	n/a
12	chr17:17910974-17911024	HMEC	breast:	n/a
13	chr17:17910974-17911024	U87	brain:	n/a
14	chr17:17910974-17911024	Caco-2	colon:	n/a
15	chr17:17910974-17911024	PANC-1	pancreas:	n/a
16	chr17:17910974-17911024	RPTEC	kidney:	n/a
17	chr17:17910974-17911024	CMK	blood:	n/a
18	chr17:17910974-17911024	NHDF-neo	bronchial:	n/a
19	chr17:17910974-17911024	MCF-7	breast:	n/a
20	chr17:17910974-17911024	PFSK-1	brain:	n/a
21	chr17:17910974-17911024	HepG2	liver:	n/a
22	chr17:17910974-17911024	MCF10A-Er-Src	breast:	n/a
23	chr17:17910974-17911024	NH-A	brain:	n/a
24	chr17:17910974-17911024	HIPEpiC	eye:	n/a
25	chr17:17910974-17911024	NT2-D1	testis:	n/a
26	chr17:17910974-17911024	HRCEpiC	kidney:	n/a
27	chr17:17910974-17911024	HCF	heart:	n/a
28	chr17:17910974-17911024	BE2_C	brain:	n/a
29	chr17:17910974-17911024	HEEpiC	esophagus:	n/a
30	chr17:17910974-17911024	SAEC	small airway:	n/a
31	chr17:17910974-17911024	GM12892	blood:	n/a
32	chr17:17910974-17911024	A549	lung:	n/a
33	chr17:17910974-17911024	SKMC	muscle:	n/a
34	chr17:17910974-17911024	GM12891	blood:	n/a
35	chr17:17910974-17911024	AG04450	lung:	fetal
36	chr17:17910974-17911024	HPAEpiC	pulmonary alveolar:	n/a
37	chr17:17910974-17911024	BJ	skin:	n/a
38	chr17:17910974-17911024	ProgFib	skin:	n/a
39	chr17:17910974-17911024	HCM	heart:	n/a
40	chr17:17910974-17911024	IMR90	lung:	fetal
41	chr17:17910974-17911024	HUVEC	blood vessel:	n/a
42	chr17:17910974-17911024	ECC-1	luminal epithelium:	n/a
43	chr17:17910974-17911024	AG09309	skin:	n/a
44	chr17:17910974-17911024	HRE	kidney:	n/a
45	chr17:17910974-17911024	HEK293	kidney:	embryo
46	chr17:17910974-17911024	GM19239	blood:	n/a
47	chr17:17910974-17911024	NHBE	bronchial:	n/a
48	chr17:17910974-17911024	AoSMC	blood vessel:	n/a
49	chr17:17910974-17911024	K562	blood:	n/a
50	chr17:17910974-17911024	Jurkat	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17910867..17913101-chr17:17941091..17943633,2	MCF-7	breast:
2	chr17:17910988..17913455-chr17:17916505..17918052,2	K562	blood:
3	chr17:17902979..17906251-chr17:17910368..17913208,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232344	CpG island
ENSG00000171953	Chromatin interaction
ENSG00000141034	Chromatin interaction
ENSG00000201378	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11078408	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11078409	0.80[AMR][1000 genomes]
rs11650021	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11869491	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11870660	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11871231	0.94[EUR][1000 genomes]
rs12939020	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12940282	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28537385	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28555361	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2955350	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2955353	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2955354	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2955355	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955356	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955357	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955358	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955359	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2955368	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2955369	0.82[AMR][1000 genomes]
rs2955370	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2955372	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2955377	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2955378	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2955380	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2955381	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2955383	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955384	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955385	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2974998	0.80[EUR][1000 genomes]
rs4072738	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4072739	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4299203	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4365348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4368210	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4410135	0.82[EUR][1000 genomes]
rs4426402	0.81[EUR][1000 genomes]
rs4459604	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471742	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4506969	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4584886	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4643387	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924832	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925133	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4925135	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4925136	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57728924	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59304093	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59518074	0.82[EUR][1000 genomes]
rs62072048	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072049	0.84[EUR][1000 genomes]
rs62072050	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073573	0.82[EUR][1000 genomes]
rs6502631	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502632	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502633	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6502634	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6502636	0.80[EUR][1000 genomes]
rs7207461	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7207821	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7209003	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7210400	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7211714	0.80[EUR][1000 genomes]
rs7212167	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7215524	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7219320	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7219324	0.94[EUR][1000 genomes]
rs7223696	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7224047	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7406982	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7503738	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8068175	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8069811	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070731	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8071238	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8075189	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080334	0.82[AMR][1000 genomes]
rs8080602	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8082590	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9894138	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9896837	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9897761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9899355	0.93[EUR][1000 genomes]
rs9911850	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9912096	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9913277	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9914127	0.82[AMR][1000 genomes];0.84[EUR][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
rs12150369	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	chr17:17876600-17914600	Weak transcription	Aorta	Aorta
2	chr17:17876800-17912000	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:17886800-17913000	Weak transcription	Fetal Lung	lung
4	chr17:17894000-17920600	Weak transcription	Stomach Mucosa	stomach
5	chr17:17894600-17911400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:17898200-17918000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:17898200-17918000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:17898400-17911400	Weak transcription	HSMM	muscle
9	chr17:17898600-17917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:17903000-17911400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17903600-17913200	Weak transcription	Gastric	stomach
12	chr17:17903600-17913600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:17904000-17911800	Weak transcription	HepG2	liver
14	chr17:17905000-17912000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:17905800-17911400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr17:17906000-17911800	Weak transcription	NHDF-Ad	bronchial
17	chr17:17906000-17912000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:17906000-17914800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:17906600-17929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:17907400-17913800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:17907400-17915800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:17907800-17911400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:17907800-17915200	Strong transcription	Primary B cells from cord blood	blood
25	chr17:17908000-17913000	Weak transcription	A549	lung
26	chr17:17908000-17915400	Strong transcription	Spleen	Spleen
27	chr17:17908000-17918000	Weak transcription	Brain Germinal Matrix	brain
28	chr17:17908200-17911400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:17908200-17912000	Strong transcription	Pancreas	Pancrea
30	chr17:17908200-17912200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr17:17908200-17913800	Strong transcription	Fetal Stomach	stomach
32	chr17:17908200-17914200	Strong transcription	Primary T cells from cord blood	blood
33	chr17:17908200-17917600	Weak transcription	GM12878-XiMat	blood
34	chr17:17908200-17921800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:17908400-17912000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:17908400-17912600	Strong transcription	Fetal Brain Female	brain
37	chr17:17908400-17913600	Strong transcription	Lung	lung
38	chr17:17908400-17915400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:17908400-17918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:17908400-17928400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr17:17908600-17913000	Strong transcription	Fetal Muscle Leg	muscle
42	chr17:17908600-17932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:17908800-17911800	Weak transcription	Right Atrium	heart
44	chr17:17908800-17913200	Weak transcription	Colonic Mucosa	Colon
45	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:17909000-17912400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr17:17909000-17912800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:17909000-17913800	Strong transcription	Fetal Intestine Small	intestine
49	chr17:17909200-17911400	Weak transcription	Brain Anterior Caudate	brain
50	chr17:17909200-17911800	Weak transcription	Left Ventricle	heart

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