Variant report

Variant	rs74018308
Chromosome Location	chr15:55471764-55471765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55470856..55473009-chr15:55473749..55475937,3	K562	blood:
2	chr15:55469341..55471788-chr15:55488673..55490223,2	MCF-7	breast:
3	chr15:55468427..55470541-chr15:55470610..55476298,5	K562	blood:
4	chr15:55468607..55473383-chr15:55473749..55481384,11	K562	blood:

Variant related genes	Relation type
ENSG00000137876	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16953222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794742	1.00[AMR][1000 genomes]
rs59982153	1.00[EUR][1000 genomes]
rs60000334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60105418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60411614	1.00[EUR][1000 genomes]
rs61191495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163785	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7179278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018311	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040489	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv525768	chr15:55466155-55485494	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55455800-55487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:55462600-55488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55463200-55472400	Weak transcription	Ovary	ovary
4	chr15:55463200-55474600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:55463400-55472200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:55463800-55472600	Weak transcription	Fetal Kidney	kidney
7	chr15:55464600-55472400	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:55464800-55488200	Weak transcription	Lung	lung
9	chr15:55465400-55472600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:55465400-55476600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:55466600-55472000	Weak transcription	Placenta	Placenta
12	chr15:55466800-55474000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:55466800-55474600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:55466800-55486800	Weak transcription	Psoas Muscle	Psoas
15	chr15:55467600-55472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:55467800-55480600	Weak transcription	Fetal Stomach	stomach
17	chr15:55468000-55482000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:55468200-55481600	Weak transcription	Fetal Intestine Small	intestine
19	chr15:55468400-55472400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:55468600-55471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:55468600-55474600	Weak transcription	Brain Substantia Nigra	brain
22	chr15:55468800-55487000	Weak transcription	Gastric	stomach
23	chr15:55469000-55472000	Weak transcription	HSMMtube	muscle
24	chr15:55469000-55474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:55469000-55477200	Strong transcription	Primary T cells from cord blood	blood
26	chr15:55469000-55481800	Weak transcription	Spleen	Spleen
27	chr15:55469200-55472400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:55469200-55477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:55469200-55484800	Strong transcription	Liver	Liver
30	chr15:55469200-55485000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:55469400-55472600	Weak transcription	NHLF	lung
32	chr15:55469400-55478000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:55469400-55485200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:55469600-55473000	Strong transcription	Aorta	Aorta
35	chr15:55469600-55473200	Strong transcription	Thymus	Thymus
36	chr15:55469600-55474000	Weak transcription	Colonic Mucosa	Colon
37	chr15:55469600-55479600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:55469600-55485000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:55469600-55485200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:55469600-55486000	Strong transcription	Primary B cells from cord blood	blood
41	chr15:55469800-55477400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr15:55469800-55477400	Strong transcription	Fetal Intestine Large	intestine
43	chr15:55469800-55477800	Strong transcription	HSMM	muscle
44	chr15:55469800-55484800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:55469800-55485000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:55469800-55486400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:55469800-55486600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:55470000-55472200	Weak transcription	Fetal Thymus	thymus
49	chr15:55470000-55472200	Weak transcription	Hela-S3	cervix
50	chr15:55470000-55477600	Strong transcription	Adipose Nuclei	Adipose

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