Variant report

Variant	rs57691387
Chromosome Location	chr15:51385235-51385236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51383701..51385814-chr15:51386600..51389440,2	K562	blood:
2	chr15:51385109..51388329-chr15:51394430..51396679,3	MCF-7	breast:
3	chr15:51377919..51380652-chr15:51384491..51387589,4	MCF-7	breast:
4	chr15:51384467..51387143-chr15:51389219..51391911,2	MCF-7	breast:
5	chr15:51378412..51381231-chr15:51384071..51387413,3	MCF-7	breast:
6	chr15:51383701..51385966-chr15:51387916..51389440,2	K562	blood:
7	chr15:51329958..51333003-chr15:51384455..51387756,5	MCF-7	breast:
8	chr15:51385170..51388153-chr15:51390424..51392777,2	K562	blood:
9	chr15:51199017..51202160-chr15:51384905..51388253,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081014	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28756463	0.84[AFR][1000 genomes]
rs28757870	0.94[AFR][1000 genomes]
rs28856698	0.94[AFR][1000 genomes]
rs28887636	0.94[AFR][1000 genomes]
rs57874488	0.94[AFR][1000 genomes]
rs61223902	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv428634	chr15:51299632-51446666	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51369800-51385600	Weak transcription	Esophagus	oesophagus
2	chr15:51376800-51385800	Weak transcription	HSMMtube	muscle
3	chr15:51378800-51385400	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:51380000-51385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:51382600-51385800	Weak transcription	Right Atrium	heart
6	chr15:51383400-51385600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:51384200-51385800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr15:51384200-51386000	Flanking Active TSS	HUVEC	blood vessel
9	chr15:51384400-51385800	Enhancers	HepG2	liver
10	chr15:51384600-51385400	Enhancers	Colonic Mucosa	Colon
11	chr15:51384600-51385400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:51384600-51385600	Enhancers	Placenta	Placenta
13	chr15:51384600-51386000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr15:51384600-51386400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:51384800-51385400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:51384800-51385600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:51384800-51385600	Enhancers	Ovary	ovary
18	chr15:51384800-51385800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:51384800-51385800	Weak transcription	HMEC	breast
20	chr15:51384800-51386400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:51385000-51385400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:51385000-51385600	Enhancers	Spleen	Spleen
23	chr15:51385000-51385600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr15:51385000-51385800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:51385000-51385800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr15:51385000-51385800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:51385000-51387600	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:51385000-51388000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:51385000-51388000	Active TSS	Aorta	Aorta
30	chr15:51385200-51385400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:51385200-51385400	Weak transcription	HSMM	muscle
32	chr15:51385200-51385600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr15:51385200-51385600	Active TSS	Stomach Smooth Muscle	stomach
34	chr15:51385200-51387600	Active TSS	Brain Cingulate Gyrus	brain

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