Variant report

Variant	rs6848013
Chromosome Location	chr4:174333962-174333963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174249352..174251338-chr4:174331917..174334847,2	K562	blood:
2	chr4:174249352..174252508-chr4:174330500..174334847,4	K562	blood:
3	chr4:174328825..174332802-chr4:174333189..174337913,4	K562	blood:
4	chr4:174329282..174331098-chr4:174333286..174335898,2	K562	blood:
5	chr4:174253581..174255352-chr4:174331926..174334913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164104	Chromatin interaction
ENSG00000248774	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026947	1.00[EUR][1000 genomes]
rs10030028	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13137653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1481119	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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696070	0.92[AFR][1000 genomes];1.00[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]
rs6848866	1.00[EUR][1000 genomes]
rs6852086	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655268	0.87[AFR][1000 genomes]
rs7675319	1.00[EUR][1000 genomes]
rs7687292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7690040	1.00[EUR][1000 genomes]
rs7695846	0.92[AFR][1000 genomes];1.00[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:57 , 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	chr4:174294200-174334400	Weak transcription	Right Ventricle	heart
3	chr4:174294200-174341600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:174294600-174338000	Weak transcription	Fetal Brain Male	brain
5	chr4:174294800-174334200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:174294800-174336200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:174294800-174341800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:174295400-174335800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:174297200-174338000	Weak transcription	Esophagus	oesophagus
10	chr4:174297400-174338000	Weak transcription	Fetal Lung	lung
11	chr4:174300200-174339000	Weak transcription	Ovary	ovary
12	chr4:174319600-174335400	Weak transcription	Fetal Brain Female	brain
13	chr4:174319600-174341800	Weak transcription	NHDF-Ad	bronchial
14	chr4:174320600-174335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:174320800-174335600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:174320800-174347000	Weak transcription	Aorta	Aorta
17	chr4:174321000-174341800	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:174321000-174341800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:174324600-174346200	Weak transcription	HSMMtube	muscle
20	chr4:174324800-174345600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:174325800-174341800	Weak transcription	Brain Germinal Matrix	brain
22	chr4:174327400-174341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:174329800-174335600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:174330600-174336200	Weak transcription	Osteobl	bone
25	chr4:174331200-174336600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:174331600-174341200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:174331600-174346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:174331600-174357400	Weak transcription	Left Ventricle	heart
29	chr4:174332400-174335600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:174332400-174335800	Weak transcription	Brain Substantia Nigra	brain
31	chr4:174332400-174336200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:174332400-174337600	Enhancers	HMEC	breast
33	chr4:174332400-174338200	Weak transcription	Brain Anterior Caudate	brain
34	chr4:174332400-174340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:174332600-174335000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:174332600-174335400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:174332600-174335600	Weak transcription	Brain Angular Gyrus	brain
38	chr4:174332600-174336000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:174333000-174334000	Strong transcription	Fetal Stomach	stomach
40	chr4:174333000-174337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr4:174333200-174334000	Enhancers	Spleen	Spleen
42	chr4:174333200-174338200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:174333400-174334800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:174333600-174334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:174333600-174334200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:174333600-174334800	Enhancers	HUVEC	blood vessel
47	chr4:174333600-174335000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr4:174333600-174335800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:174333800-174334000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:174333800-174334000	Enhancers	Stomach Mucosa	stomach

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