Variant report

Variant	rs60376483
Chromosome Location	chr2:55506076-55506077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2589071	0.89[ASN][1000 genomes]
rs56742481	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56918537	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 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	chr2:55496600-55508800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:55497000-55508800	Weak transcription	Right Atrium	heart
3	chr2:55497200-55506200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:55497400-55508800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:55497600-55508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:55501000-55517000	Weak transcription	Hela-S3	cervix
7	chr2:55504600-55506200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:55504800-55506200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:55504800-55508800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:55505000-55506200	Weak transcription	HepG2	liver
11	chr2:55505400-55506200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:55505400-55508800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:55505400-55508800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:55505600-55508800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:55505800-55507800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:55506000-55506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:55506000-55506200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:55506000-55506200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:55506000-55506600	Weak transcription	HMEC	breast
20	chr2:55506000-55506800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:55506000-55507400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:55506000-55508600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links