Variant report

Variant	rs7560031
Chromosome Location	chr2:172879306-172879307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172864500..172866706-chr2:172879081..172880840,2	K562	blood:
2	chr2:172877706..172879734-chr2:172884622..172888221,3	K562	blood:
3	chr2:172878645..172880573-chr2:172892398..172894603,2	K562	blood:

Variant related genes	Relation type
ENSG00000172878	Chromatin interaction
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10177679	1.00[CEU][hapmap]
rs10196521	1.00[CEU][hapmap]
rs10930497	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11676484	1.00[CEU][hapmap]
rs12473516	1.00[MEX][hapmap]
rs12473876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479374	1.00[CEU][hapmap]
rs12988626	1.00[ASN][1000 genomes]
rs13403743	1.00[CHD][hapmap]
rs1400816	1.00[CEU][hapmap]
rs17581715	1.00[CEU][hapmap]
rs1878583	1.00[CEU][hapmap]
rs1982288	1.00[CEU][hapmap]
rs2028670	1.00[CEU][hapmap]
rs2028671	1.00[CEU][hapmap]
rs2028672	1.00[CEU][hapmap]
rs2357208	1.00[CEU][hapmap]
rs28372952	1.00[CEU][hapmap]
rs34535766	1.00[ASN][1000 genomes]
rs3770443	1.00[CEU][hapmap]
rs3821092	1.00[CEU][hapmap]
rs3821094	1.00[CEU][hapmap]
rs4668417	1.00[CEU][hapmap]
rs6433315	1.00[CEU][hapmap]
rs6433318	1.00[CEU][hapmap]
rs6433322	1.00[CEU][hapmap]
rs66536067	1.00[ASN][1000 genomes]
rs6707142	1.00[CEU][hapmap]
rs6714214	1.00[CEU][hapmap]
rs6733525	1.00[ASN][1000 genomes]
rs6753859	1.00[CEU][hapmap]
rs718936	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570796	1.00[CHD][hapmap]
rs7607377	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv3031	chr2:172867462-172884232	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865200-172886600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:172865800-172886400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:172865800-172886600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:172866000-172886800	Weak transcription	HSMMtube	muscle
6	chr2:172866800-172882600	Weak transcription	K562	blood
7	chr2:172874200-172886400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:172878200-172884800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:172878200-172886400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:172878400-172886000	Weak transcription	HepG2	liver
11	chr2:172878600-172881800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:172878600-172886400	Weak transcription	Ovary	ovary
13	chr2:172878600-172886600	Weak transcription	Psoas Muscle	Psoas
14	chr2:172878600-172898200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:172878800-172881600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:172878800-172881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:172878800-172883000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:172878800-172886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:172879200-172881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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