Variant report

Variant	rs73914804
Chromosome Location	chr2:10860928-10860929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:10860820-10860970	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10857464..10859699-chr2:10860592..10863283,2	MCF-7	breast:
2	chr2:10828658..10831241-chr2:10859513..10862984,4	MCF-7	breast:

Variant related genes	Relation type
ATP6V1C2	TF binding region
ENSG00000243819	Chromatin interaction
ENSG00000236162	Chromatin interaction
ENSG00000115761	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16855524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914808	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917910	0.94[AFR][1000 genomes]

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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10858000-10861400	Weak transcription	Aorta	Aorta
2	chr2:10860000-10861000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
3	chr2:10860200-10861200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:10860200-10861200	Bivalent Enhancer	Placenta	Placenta
5	chr2:10860200-10861200	Enhancers	HSMMtube	muscle
6	chr2:10860400-10862600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr2:10860600-10861000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:10860600-10861000	Bivalent Enhancer	NHEK	skin
9	chr2:10860600-10861200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:10860600-10861400	Bivalent Enhancer	HMEC	breast
11	chr2:10860600-10861800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:10860800-10861000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:10860800-10861000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr2:10860800-10861000	Bivalent Enhancer	Thymus	Thymus
15	chr2:10860800-10861200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr2:10860800-10861200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr2:10860800-10861200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr2:10860800-10861400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr2:10860800-10862000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr2:10860800-10862600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:10860800-10862600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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