Variant report

Variant	rs4886430
Chromosome Location	chr15:75488792-75488793
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10851876	1.00[EUR][1000 genomes]
rs11072532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11072533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11072534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11072536	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11636245	0.85[CHB][hapmap]
rs11853027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12591506	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12592411	0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12708517	0.89[ASN][1000 genomes]
rs12904018	0.90[ASN][1000 genomes]
rs1532155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2006683	0.84[ASN][1000 genomes]
rs28585063	1.00[EUR][1000 genomes]
rs3743210	0.93[ASN][1000 genomes]
rs3743211	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4886431	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4886677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6495145	1.00[EUR][1000 genomes]
rs7161754	1.00[EUR][1000 genomes]
rs7161993	1.00[EUR][1000 genomes]
rs73443236	1.00[EUR][1000 genomes]
rs7403344	0.92[ASN][1000 genomes]
rs8025431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8037391	1.00[EUR][1000 genomes]
rs8039284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8043432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs902482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs953555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9673029	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	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
2	chr15:75484200-75491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75484200-75492800	Enhancers	Placenta	Placenta
4	chr15:75485600-75491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:75486000-75489200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:75486200-75489200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:75486200-75490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:75487000-75488800	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:75487000-75490000	Enhancers	Fetal Stomach	stomach
10	chr15:75487000-75491200	Enhancers	Fetal Heart	heart
11	chr15:75487400-75489600	Enhancers	Fetal Thymus	thymus
12	chr15:75487400-75491000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:75487600-75488800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:75487600-75488800	Enhancers	Fetal Intestine Large	intestine
15	chr15:75487600-75488800	Enhancers	GM12878-XiMat	blood
16	chr15:75487600-75488800	Enhancers	HSMM	muscle
17	chr15:75487600-75488800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr15:75487600-75489000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:75487600-75489600	Enhancers	Stomach Smooth Muscle	stomach
20	chr15:75487600-75490200	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:75487600-75490200	Enhancers	Fetal Intestine Small	intestine
22	chr15:75487800-75488800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr15:75487800-75488800	Enhancers	Right Atrium	heart
24	chr15:75487800-75489000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:75487800-75490000	Enhancers	Fetal Muscle Leg	muscle
26	chr15:75487800-75493200	Weak transcription	Brain Substantia Nigra	brain
27	chr15:75488000-75490600	Weak transcription	Pancreas	Pancrea
28	chr15:75488000-75493200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:75488200-75488800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr15:75488200-75488800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:75488200-75488800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:75488200-75488800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:75488200-75488800	Enhancers	Brain Anterior Caudate	brain
34	chr15:75488200-75489000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:75488200-75489400	Weak transcription	Fetal Brain Female	brain
36	chr15:75488200-75489400	Weak transcription	Left Ventricle	heart
37	chr15:75488200-75489400	Enhancers	HepG2	liver
38	chr15:75488200-75489600	Weak transcription	Right Ventricle	heart
39	chr15:75488200-75490400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:75488200-75491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:75488200-75491800	Weak transcription	Psoas Muscle	Psoas
42	chr15:75488200-75493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:75488400-75488800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr15:75488400-75489000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr15:75488400-75489200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:75488400-75489200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:75488400-75489400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:75488400-75489400	Weak transcription	Stomach Mucosa	stomach
49	chr15:75488400-75492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:75488400-75493200	Weak transcription	Colon Smooth Muscle	Colon

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