Variant report

Variant	rs4635395
Chromosome Location	chr17:17882087-17882088
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	chr17:17875908..17878478-chr17:17881111..17883017,2	MCF-7	breast:
2	chr17:17874497..17876049-chr17:17881154..17882663,2	K562	blood:

Variant related genes	Relation type
ENSG00000171962	Chromatin interaction
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11078406	0.85[AFR][1000 genomes]
rs11078408	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11078409	0.94[AFR][1000 genomes]
rs12603148	0.94[AFR][1000 genomes]
rs28537385	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2955350	0.82[ASN][1000 genomes]
rs2955353	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2955354	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2955359	0.82[ASN][1000 genomes]
rs2955369	0.80[ASN][1000 genomes]
rs2955370	0.82[ASN][1000 genomes]
rs2955372	0.82[ASN][1000 genomes]
rs2955377	0.81[AFR][1000 genomes]
rs2955378	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2955380	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2955381	0.82[ASN][1000 genomes]
rs2955384	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2955385	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3935505	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3935506	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4368210	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4471742	0.96[AFR][1000 genomes]
rs4506969	0.91[AFR][1000 genomes]
rs4584886	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4925135	0.82[ASN][1000 genomes]
rs62072048	0.81[AFR][1000 genomes]
rs62072050	0.88[AFR][1000 genomes]
rs6502633	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7207461	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7207821	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7214002	0.94[AFR][1000 genomes]
rs7215524	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7224047	0.81[AFR][1000 genomes]
rs7503738	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8071238	0.87[AFR][1000 genomes]
rs8076747	0.91[AFR][1000 genomes]
rs8080602	0.82[ASN][1000 genomes]
rs9896837	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9908832	0.93[AFR][1000 genomes]
rs9914127	0.94[AFR][1000 genomes];0.84[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
rs4635395	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17876400-17884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:17876400-17888600	Weak transcription	Lung	lung
3	chr17:17876400-17903200	Weak transcription	Gastric	stomach
4	chr17:17876600-17883400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:17876600-17884800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:17876600-17914600	Weak transcription	Aorta	Aorta
7	chr17:17876800-17882200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:17876800-17883000	Weak transcription	Stomach Mucosa	stomach
9	chr17:17876800-17884400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:17876800-17884600	Weak transcription	Brain Angular Gyrus	brain
11	chr17:17876800-17884600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr17:17876800-17891800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:17876800-17909400	Weak transcription	Brain Substantia Nigra	brain
14	chr17:17876800-17912000	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:17877000-17886400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:17877000-17886400	Weak transcription	NHEK	skin
17	chr17:17877000-17887000	Weak transcription	Brain Anterior Caudate	brain
18	chr17:17877000-17888000	Weak transcription	Ovary	ovary
19	chr17:17877000-17891000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:17877000-17891800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr17:17877000-17900000	Weak transcription	Fetal Intestine Small	intestine
22	chr17:17877200-17891200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:17877200-17891400	Weak transcription	Fetal Muscle Leg	muscle
24	chr17:17877600-17893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:17879600-17883200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:17880000-17885000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:17880200-17882200	Weak transcription	Primary B cells from cord blood	blood
28	chr17:17880200-17883400	Strong transcription	Fetal Stomach	stomach
29	chr17:17881400-17883400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr17:17881600-17882600	Enhancers	Spleen	Spleen
31	chr17:17881600-17883000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr17:17881600-17883600	Enhancers	Esophagus	oesophagus
33	chr17:17881600-17891200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:17881800-17908200	Weak transcription	Pancreas	Pancrea
35	chr17:17882000-17882200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:17882000-17882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:17882000-17882800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr17:17882000-17883000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:17882000-17884600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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