Variant report

Variant	rs73438414
Chromosome Location	chr15:72520808-72520809
allele	G/T
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

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

No.	Distal block	Cell Line	Cell type
1	chr15:72501144..72502803-chr15:72520575..72523218,2	K562	blood:
2	chr15:72519778..72525226-chr15:72547384..72553620,8	MCF-7	breast:
3	chr15:72409625..72411643-chr15:72517695..72521104,3	MCF-7	breast:
4	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
5	chr15:72519181..72521639-chr15:72766210..72768068,3	MCF-7	breast:
6	chr15:72519150..72522130-chr17:57913936..57915529,2	MCF-7	breast:
7	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
8	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
9	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
10	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
11	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
12	chr15:72520807..72523133-chr15:72610343..72613586,3	MCF-7	breast:
13	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:
14	chr13:96705350..96706193-chr15:72520336..72521147,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000260339	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000102595	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10083583	0.81[AFR][1000 genomes]
rs10518987	0.81[AFR][1000 genomes]
rs12324744	0.96[AFR][1000 genomes]
rs12907087	0.92[AFR][1000 genomes]
rs12907377	0.92[AFR][1000 genomes]
rs12909590	0.82[AFR][1000 genomes]
rs12911285	0.92[AFR][1000 genomes]
rs12914269	0.92[AFR][1000 genomes]
rs1426169	0.92[AFR][1000 genomes]
rs2415133	0.85[AFR][1000 genomes]
rs28414926	0.87[AFR][1000 genomes]
rs34346715	0.92[AFR][1000 genomes]
rs34382909	0.96[AFR][1000 genomes]
rs35104697	0.92[AFR][1000 genomes]
rs35694406	0.90[AFR][1000 genomes]
rs36110969	0.92[AFR][1000 genomes]
rs3743227	0.96[AFR][1000 genomes]
rs3743228	0.96[AFR][1000 genomes]
rs3743229	0.96[AFR][1000 genomes]
rs57420281	0.96[AFR][1000 genomes]
rs57595193	0.89[AFR][1000 genomes]
rs57692836	0.96[AFR][1000 genomes]
rs58352854	0.96[AFR][1000 genomes]
rs60350471	1.00[AFR][1000 genomes]
rs60600349	0.98[AFR][1000 genomes]
rs61109283	0.85[AFR][1000 genomes]
rs6494994	1.00[AFR][1000 genomes]
rs67195650	0.96[AFR][1000 genomes]
rs7174264	0.96[AFR][1000 genomes]
rs73436365	0.89[AFR][1000 genomes]
rs73436366	0.89[AFR][1000 genomes]
rs73436377	0.89[AFR][1000 genomes]
rs73436397	1.00[AFR][1000 genomes]
rs73436400	1.00[AFR][1000 genomes]
rs73438403	0.98[AFR][1000 genomes]
rs73438405	1.00[AFR][1000 genomes]
rs73438446	0.89[AFR][1000 genomes]
rs73438458	0.91[AFR][1000 genomes]
rs73438466	0.81[AFR][1000 genomes]
rs8028169	1.00[AFR][1000 genomes]
rs8033167	1.00[AFR][1000 genomes]
rs8192354	1.00[AFR][1000 genomes]
rs8192360	1.00[AFR][1000 genomes]
rs8192365	1.00[AFR][1000 genomes]
rs8192367	0.96[AFR][1000 genomes]
rs8192379	1.00[AFR][1000 genomes]
rs8192393	1.00[AFR][1000 genomes]
rs8192408	0.98[AFR][1000 genomes]
rs8192412	1.00[AFR][1000 genomes]
rs8192413	1.00[AFR][1000 genomes]
rs8192418	0.93[AFR][1000 genomes]
rs890312	0.92[AFR][1000 genomes]
rs9806184	0.96[AFR][1000 genomes]
rs9806204	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72511400-72521800	Weak transcription	Liver	Liver
2	chr15:72517800-72521000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:72517800-72521000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr15:72517800-72522600	Transcr. at gene 5' and 3'	A549	lung
5	chr15:72518400-72521000	Enhancers	Colonic Mucosa	Colon
6	chr15:72518400-72521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:72518400-72521600	Enhancers	Fetal Intestine Large	intestine
8	chr15:72518400-72521800	Enhancers	Spleen	Spleen
9	chr15:72518600-72522200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr15:72518800-72522600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr15:72519000-72521000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:72519000-72521000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:72519000-72521000	Enhancers	Fetal Lung	lung
14	chr15:72519000-72521000	Enhancers	Stomach Mucosa	stomach
15	chr15:72519000-72521200	Enhancers	Small Intestine	intestine
16	chr15:72519000-72521800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr15:72519000-72522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:72519000-72522400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr15:72519200-72521200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:72519200-72521200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr15:72519200-72522000	Flanking Active TSS	NHLF	lung
22	chr15:72519200-72522200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:72519400-72521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:72519400-72521000	Enhancers	Adipose Nuclei	Adipose
25	chr15:72519400-72521000	Weak transcription	Gastric	stomach
26	chr15:72519400-72521000	Weak transcription	Lung	lung
27	chr15:72519400-72521000	Weak transcription	Ovary	ovary
28	chr15:72519400-72521000	Weak transcription	Pancreas	Pancrea
29	chr15:72519400-72521200	Enhancers	Brain Substantia Nigra	brain
30	chr15:72519400-72521400	Enhancers	Fetal Intestine Small	intestine
31	chr15:72519400-72521800	Weak transcription	Aorta	Aorta
32	chr15:72519400-72522200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:72519600-72521000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr15:72519600-72521200	Enhancers	Colon Smooth Muscle	Colon
35	chr15:72519600-72521200	Active TSS	GM12878-XiMat	blood
36	chr15:72519600-72521400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:72519600-72524800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:72519800-72521000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:72519800-72521000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr15:72519800-72521000	Enhancers	Rectal Smooth Muscle	rectum
41	chr15:72519800-72521000	Active TSS	HSMM	muscle
42	chr15:72519800-72521000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr15:72520000-72521000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:72520000-72521000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:72520000-72522000	Flanking Active TSS	HUVEC	blood vessel
46	chr15:72520000-72522000	Transcr. at gene 5' and 3'	K562	blood
47	chr15:72520000-72522200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr15:72520200-72521000	Active TSS	Brain Angular Gyrus	brain
49	chr15:72520200-72521000	Active TSS	Brain Cingulate Gyrus	brain
50	chr15:72520200-72521000	Enhancers	Fetal Stomach	stomach

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