Variant report

Variant	rs564410599
Chromosome Location	chr2:211089016-211089017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41463157..41466155-chr2:211088015..211089515,2	K562	blood:
2	chr2:211082052..211083888-chr2:211086942..211089346,2	K562	blood:
3	chr17:41464702..41466633-chr2:211088015..211091015,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv1803710	chr2:211073376-211173763	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211067800-211089200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:211080200-211089400	Weak transcription	Gastric	stomach
3	chr2:211087600-211091000	Active TSS	Aorta	Aorta
4	chr2:211087800-211090200	Weak transcription	Hela-S3	cervix
5	chr2:211088400-211089200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:211088600-211090600	Active TSS	Pancreas	Pancrea
7	chr2:211088800-211089400	Active TSS	Adipose Nuclei	Adipose
8	chr2:211088800-211090600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:211089000-211089200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr2:211089000-211089200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:211089000-211089200	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr2:211089000-211089400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:211089000-211089400	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:211089000-211089600	Flanking Active TSS	Liver	Liver
15	chr2:211089000-211089600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:211089000-211090000	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:211089000-211090000	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:211089000-211090200	Active TSS	Brain Anterior Caudate	brain
19	chr2:211089000-211090600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:211089000-211090600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:211089000-211090600	Active TSS	Right Atrium	heart
22	chr2:211089000-211091000	Bivalent/Poised TSS	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links