Variant report

Variant	rs1481119
Chromosome Location	chr4:174335804-174335805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174254180..174257605-chr4:174334779..174337927,4	K562	blood:
2	chr4:174288416..174294582-chr4:174334804..174340185,11	MCF-7	breast:
3	chr4:174253094..174257885-chr4:174334209..174339025,6	MCF-7	breast:
4	chr4:174236874..174243435-chr4:174334673..174339048,7	K562	blood:
5	chr4:174326282..174328315-chr4:174334961..174337508,2	MCF-7	breast:
6	chr4:174252915..174255915-chr4:174334928..174337225,3	K562	blood:
7	chr4:174289081..174294382-chr4:174335345..174339403,6	MCF-7	breast:
8	chr4:174242458..174245436-chr4:174334949..174337241,2	MCF-7	breast:
9	chr4:174328825..174332802-chr4:174333189..174337913,4	K562	blood:
10	chr4:174335447..174337332-chr4:175037132..175039809,2	MCF-7	breast:
11	chr4:174329282..174331098-chr4:174333286..174335898,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164106	Chromatin interaction
ENSG00000109586	Chromatin interaction
ENSG00000164104	Chromatin interaction
ENSG00000272870	Chromatin interaction
ENSG00000164105	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10004826	1.00[EUR][1000 genomes]
rs10010027	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026947	1.00[EUR][1000 genomes]
rs10030028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13137653	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28444875	1.00[EUR][1000 genomes]
rs28623383	1.00[EUR][1000 genomes]
rs28664683	1.00[EUR][1000 genomes]
rs28820378	1.00[EUR][1000 genomes]
rs4695834	1.00[CEU][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696070	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696074	1.00[EUR][1000 genomes]
rs56989541	1.00[EUR][1000 genomes]
rs57940169	1.00[EUR][1000 genomes]
rs6823255	1.00[EUR][1000 genomes]
rs6848013	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6848866	1.00[EUR][1000 genomes]
rs6852086	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655268	0.86[AFR][1000 genomes]
rs7675319	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7687292	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7690040	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7695846	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461841	chr4:174330663-174423013	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv596233	chr4:174330663-174423013	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174294000-174340400	Weak transcription	Fetal Intestine Large	intestine
2	chr4:174294200-174341600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:174294600-174338000	Weak transcription	Fetal Brain Male	brain
4	chr4:174294800-174336200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:174294800-174341800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:174297200-174338000	Weak transcription	Esophagus	oesophagus
7	chr4:174297400-174338000	Weak transcription	Fetal Lung	lung
8	chr4:174300200-174339000	Weak transcription	Ovary	ovary
9	chr4:174319600-174341800	Weak transcription	NHDF-Ad	bronchial
10	chr4:174320800-174347000	Weak transcription	Aorta	Aorta
11	chr4:174321000-174341800	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:174321000-174341800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:174324600-174346200	Weak transcription	HSMMtube	muscle
14	chr4:174324800-174345600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:174325800-174341800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:174327400-174341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:174330600-174336200	Weak transcription	Osteobl	bone
18	chr4:174331200-174336600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:174331600-174341200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:174331600-174346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:174331600-174357400	Weak transcription	Left Ventricle	heart
22	chr4:174332400-174336200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:174332400-174337600	Enhancers	HMEC	breast
24	chr4:174332400-174338200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:174332400-174340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:174332600-174336000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:174333000-174337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr4:174333200-174338200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:174333800-174336600	Enhancers	Primary B cells from cord blood	blood
30	chr4:174333800-174339400	Weak transcription	Right Atrium	heart
31	chr4:174333800-174354600	Weak transcription	Lung	lung
32	chr4:174333800-174357800	Weak transcription	Pancreas	Pancrea
33	chr4:174334000-174337800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:174334000-174338600	Weak transcription	Spleen	Spleen
35	chr4:174334000-174368800	Weak transcription	Fetal Stomach	stomach
36	chr4:174334600-174341600	Weak transcription	Dnd41	blood
37	chr4:174334800-174336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:174334800-174338000	Weak transcription	HUVEC	blood vessel
39	chr4:174335000-174336400	Weak transcription	Stomach Mucosa	stomach
40	chr4:174335000-174337000	Enhancers	Brain Hippocampus Middle	brain
41	chr4:174335200-174337600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:174335200-174338600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:174335400-174336400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:174335400-174338200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:174335600-174336000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr4:174335600-174336200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:174335600-174336800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:174335600-174337200	Enhancers	Brain Angular Gyrus	brain
49	chr4:174335600-174338200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:174335600-174338400	Enhancers	Brain Cingulate Gyrus	brain

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