Variant report

Variant	rs2222461
Chromosome Location	chr4:8503691-8503692
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	chr4:8500815..8505571-chr4:8524859..8530536,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1357482	0.86[EUR][1000 genomes]
rs3103076	0.83[EUR][1000 genomes]
rs58250358	0.83[EUR][1000 genomes]
rs6815431	0.83[EUR][1000 genomes]
rs6823826	0.96[EUR][1000 genomes]
rs6826283	0.86[EUR][1000 genomes]
rs6830982	0.96[EUR][1000 genomes]
rs6832458	0.89[EUR][1000 genomes]
rs6843048	0.83[EUR][1000 genomes]
rs6853810	0.83[EUR][1000 genomes]
rs73076295	0.92[EUR][1000 genomes]
rs73076299	0.92[EUR][1000 genomes]
rs7689901	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3377450	chr4:8502852-8506150	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
2	chr4:8497000-8504200	Weak transcription	Right Atrium	heart
3	chr4:8501600-8504000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:8501600-8504000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:8501600-8504000	Weak transcription	Fetal Heart	heart
6	chr4:8501600-8504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:8501600-8504200	Weak transcription	Esophagus	oesophagus
8	chr4:8501600-8504200	Weak transcription	Pancreas	Pancrea
9	chr4:8501600-8504400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:8501600-8504400	Weak transcription	Lung	lung
11	chr4:8501600-8504600	Weak transcription	Brain Anterior Caudate	brain
12	chr4:8501600-8504600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:8501600-8505200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:8501600-8505600	Weak transcription	Gastric	stomach
15	chr4:8501600-8505800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:8501600-8505800	Weak transcription	Colonic Mucosa	Colon
17	chr4:8501600-8505800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:8501600-8506000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
29	chr4:8501800-8510600	Enhancers	Ovary	ovary
30	chr4:8502600-8504000	Enhancers	Fetal Muscle Leg	muscle
31	chr4:8502800-8504800	Enhancers	HSMMtube	muscle
32	chr4:8502800-8505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:8502800-8512800	Enhancers	Placenta	Placenta
34	chr4:8503000-8504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:8503000-8504200	Enhancers	Fetal Muscle Trunk	muscle
36	chr4:8503000-8505400	Enhancers	HSMM	muscle
37	chr4:8503000-8506800	Enhancers	Brain Hippocampus Middle	brain
38	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
39	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links