Variant report

Variant	rs73038939
Chromosome Location	chr1:175192194-175192195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175160945..175164474-chr1:175187377..175192795,5	MCF-7	breast:
2	chr1:175159352..175161993-chr1:175190679..175192735,2	K562	blood:
3	chr1:175162286..175164417-chr1:175190945..175192662,2	MCF-7	breast:
4	chr1:175165193..175167023-chr1:175191805..175194752,2	K562	blood:

Variant related genes	Relation type
ENSG00000235750	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12066900	1.00[EUR][1000 genomes]
rs12074601	1.00[EUR][1000 genomes]
rs2157566	1.00[EUR][1000 genomes]
rs2861278	1.00[EUR][1000 genomes]
rs4650736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651393	1.00[EUR][1000 genomes]
rs4651397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651401	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4651403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651442	1.00[EUR][1000 genomes]
rs60264525	1.00[EUR][1000 genomes]
rs60781969	1.00[EUR][1000 genomes]
rs61553406	1.00[EUR][1000 genomes]
rs6685421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032419	1.00[EUR][1000 genomes]
rs73032430	1.00[EUR][1000 genomes]
rs73032442	1.00[EUR][1000 genomes]
rs73032445	1.00[EUR][1000 genomes]
rs73034615	1.00[EUR][1000 genomes]
rs73036233	1.00[EUR][1000 genomes]
rs73036254	1.00[EUR][1000 genomes]
rs73038926	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046091	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175187800-175192200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:175187800-175192400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:175188000-175192600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:175188200-175195000	Enhancers	Placenta	Placenta
5	chr1:175188800-175194200	Weak transcription	GM12878-XiMat	blood
6	chr1:175189600-175192600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:175189800-175193200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:175190400-175192200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:175190600-175196000	Weak transcription	Right Atrium	heart
10	chr1:175190800-175196400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:175190800-175201200	Weak transcription	Psoas Muscle	Psoas
12	chr1:175191000-175192200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:175191400-175192600	Enhancers	HMEC	breast
14	chr1:175191400-175194400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:175191600-175195400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:175191600-175199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:175191800-175192400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:175191800-175192400	Enhancers	NHEK	skin
19	chr1:175191800-175193400	Weak transcription	Fetal Stomach	stomach
20	chr1:175191800-175195600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:175191800-175196600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:175192000-175192600	Weak transcription	Spleen	Spleen
23	chr1:175192000-175196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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