Variant report

Variant	rs6814525
Chromosome Location	chr4:78098143-78098144
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	chr4:78085870..78089937-chr4:78095551..78099001,4	MCF-7	breast:
2	chr4:78093090..78096475-chr4:78097818..78101678,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1477312	0.81[EUR][1000 genomes]
rs17002420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150063	0.81[EUR][1000 genomes]
rs59392243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60089254	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532864	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7656746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78084600-78102200	Weak transcription	Spleen	Spleen
2	chr4:78087400-78100600	Weak transcription	Hela-S3	cervix
3	chr4:78089400-78108000	Weak transcription	Left Ventricle	heart
4	chr4:78090400-78109800	Weak transcription	Gastric	stomach
5	chr4:78091800-78105000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:78092000-78099000	Enhancers	HMEC	breast
7	chr4:78092200-78099200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:78092200-78106000	Weak transcription	Primary T cells from cord blood	blood
9	chr4:78092400-78098200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:78092400-78098400	Weak transcription	Fetal Kidney	kidney
11	chr4:78092400-78100200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:78092400-78100400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:78092400-78100800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:78092600-78100800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:78092600-78108600	Weak transcription	Thymus	Thymus
16	chr4:78094400-78114200	Weak transcription	Primary B cells from cord blood	blood
17	chr4:78095400-78101200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:78096200-78100200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:78096400-78099400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr4:78096400-78100000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:78096400-78100200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:78096800-78098200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:78096800-78098200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:78096800-78098600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:78096800-78108200	Weak transcription	Fetal Brain Female	brain
26	chr4:78097400-78101200	Enhancers	Fetal Muscle Leg	muscle
27	chr4:78097600-78098200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:78097600-78098600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:78097600-78098600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:78097600-78098600	Flanking Active TSS	NHEK	skin
31	chr4:78097600-78098800	Enhancers	Fetal Intestine Large	intestine
32	chr4:78097600-78098800	Enhancers	Fetal Intestine Small	intestine
33	chr4:78097600-78099000	Enhancers	Brain Germinal Matrix	brain
34	chr4:78097600-78099400	Enhancers	Fetal Stomach	stomach
35	chr4:78097600-78101000	Enhancers	HSMMtube	muscle
36	chr4:78097800-78098200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr4:78097800-78098200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:78097800-78098800	Enhancers	Fetal Muscle Trunk	muscle
39	chr4:78097800-78099200	Enhancers	Fetal Lung	lung
40	chr4:78097800-78099400	Enhancers	Placenta	Placenta
41	chr4:78098000-78098200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr4:78098000-78098200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr4:78098000-78098200	Enhancers	Fetal Brain Male	brain
44	chr4:78098000-78098200	Flanking Active TSS	HSMM	muscle
45	chr4:78098000-78099000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr4:78098000-78099200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:78098000-78099800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr4:78098000-78100800	Weak transcription	Esophagus	oesophagus

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