Variant report

Variant	rs56047002
Chromosome Location	chr2:99059826-99059827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99059716..99061433-chr2:99224570..99226733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2278210	1.00[AFR][1000 genomes]
rs61748140	1.00[AFR][1000 genomes]
rs72821929	1.00[AFR][1000 genomes];1.00[AMR][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99057200-99060800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:99057400-99060800	Weak transcription	Fetal Heart	heart
3	chr2:99058000-99060600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:99058200-99060800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:99058400-99060600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:99058600-99060600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:99058600-99060800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:99058800-99060600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:99058800-99060600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:99059000-99060400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:99059000-99060800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:99059000-99060800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:99059200-99060600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:99059200-99060600	Weak transcription	HepG2	liver
15	chr2:99059200-99060800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:99059200-99060800	Weak transcription	Stomach Mucosa	stomach
17	chr2:99059400-99060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:99059400-99060400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:99059400-99060600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:99059400-99060600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:99059400-99060600	Weak transcription	K562	blood
22	chr2:99059600-99060400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:99059800-99060600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:99059800-99060800	Weak transcription	Fetal Intestine Large	intestine

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