Variant report

Variant	rs2593189
Chromosome Location	chr15:52275255-52275256
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52273697..52275326-chr15:52431024..52433889,2	MCF-7	breast:
2	chr15:52272584..52276027-chr15:52308541..52312916,5	K562	blood:
3	chr15:52273041..52275862-chr15:52300749..52303075,2	MCF-7	breast:
4	chr15:52272788..52276993-chr15:52369760..52371998,4	MCF-7	breast:
5	chr15:52273590..52276860-chr15:52313793..52315606,3	MCF-7	breast:
6	chr15:52274592..52276702-chr15:52310865..52313254,2	MCF-7	breast:
7	chr15:52273618..52277217-chr15:52282042..52285418,5	MCF-7	breast:
8	chr15:52273987..52275289-chr15:52370394..52371967,22	MCF-7	breast:
9	chr15:52272930..52275289-chr15:52472014..52473869,2	MCF-7	breast:
10	chr15:52273740..52275990-chr15:52310375..52312571,2	K562	blood:
11	chr15:52273281..52276233-chr15:52432324..52433834,2	MCF-7	breast:
12	chr15:52272756..52275955-chr15:52369833..52372310,3	MCF-7	breast:
13	chr15:52274621..52276183-chr15:52281079..52282709,2	MCF-7	breast:
14	chr15:52272035..52276768-chr15:52309954..52313442,7	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000069956	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16964720	1.00[GIH][hapmap]
rs2246726	1.00[GIH][hapmap]
rs2414121	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2554313	1.00[EUR][1000 genomes]
rs2554321	1.00[GIH][hapmap]
rs2554341	1.00[GIH][hapmap]
rs4775995	1.00[GIH][hapmap]
rs4775996	1.00[GIH][hapmap]
rs4775997	1.00[GIH][hapmap]
rs7177328	1.00[GIH][hapmap]

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	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv517399	chr15:52266878-52305464	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv569421	chr15:52268144-52282436	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52273200-52275400	Flanking Active TSS	Dnd41	blood
2	chr15:52274600-52275400	Enhancers	NHEK	skin
3	chr15:52274600-52275600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:52274600-52275600	Enhancers	HUVEC	blood vessel
5	chr15:52274600-52275800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr15:52274600-52275800	Enhancers	Hela-S3	cervix
7	chr15:52274600-52276400	Weak transcription	Placenta	Placenta
8	chr15:52274600-52277200	Weak transcription	Fetal Intestine Small	intestine
9	chr15:52274600-52279200	Weak transcription	Right Atrium	heart
10	chr15:52274600-52284600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:52274800-52275400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:52274800-52275400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:52274800-52275400	Enhancers	A549	lung
14	chr15:52274800-52275600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:52274800-52275600	Weak transcription	Stomach Mucosa	stomach
16	chr15:52274800-52278800	Weak transcription	Brain Angular Gyrus	brain
17	chr15:52274800-52287200	Weak transcription	HSMMtube	muscle
18	chr15:52275000-52276200	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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