Variant report

Variant	rs16957031
Chromosome Location	chr15:42969114-42969115
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42967308..42970278-chr15:42981149..42982877,2	K562	blood:
2	chr15:42957477..42963934-chr15:42964860..42973083,9	K562	blood:

Variant related genes	Relation type
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10467975	0.80[YRI][hapmap]
rs11854550	0.82[YRI][hapmap]
rs12323990	0.89[YRI][hapmap];0.96[AFR][1000 genomes]
rs12591415	0.89[YRI][hapmap]
rs12592573	0.85[YRI][hapmap]
rs12594600	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs12594696	0.89[YRI][hapmap]
rs12594724	0.85[AFR][1000 genomes]
rs12594725	0.80[AFR][1000 genomes]
rs12594765	0.85[YRI][hapmap]
rs16957037	0.89[YRI][hapmap];0.96[AFR][1000 genomes]
rs16957055	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs16957061	0.81[YRI][hapmap];0.89[AFR][1000 genomes]
rs16957063	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs16957120	0.82[YRI][hapmap]
rs28537072	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3742992	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs3742995	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs4334272	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs58237318	0.91[AFR][1000 genomes]
rs60723187	0.83[AFR][1000 genomes]
rs6493065	0.89[YRI][hapmap]
rs7181238	0.85[YRI][hapmap]
rs73410923	0.83[AFR][1000 genomes]
rs73410927	0.80[AFR][1000 genomes]
rs73410931	0.83[AFR][1000 genomes]
rs73410940	0.81[AFR][1000 genomes]
rs8028365	0.83[AFR][1000 genomes]
rs8028699	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs8033336	0.85[YRI][hapmap]
rs9920092	0.82[YRI][hapmap]
rs9920562	0.85[YRI][hapmap]
rs9920624	0.80[YRI][hapmap]
rs9920935	0.85[YRI][hapmap]
rs9944270	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:42942800-42973600	Weak transcription	Psoas Muscle	Psoas
5	chr15:42945200-42973400	Weak transcription	Thymus	Thymus
6	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:42950000-42969400	Weak transcription	K562	blood
8	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
9	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr15:42952200-42973400	Weak transcription	Gastric	stomach
11	chr15:42952400-42970800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:42952600-42979000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:42953200-42970000	Strong transcription	Adipose Nuclei	Adipose
16	chr15:42953200-42970200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:42954000-42970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:42954200-42973600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:42954400-42976200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:42954600-42986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:42954800-42983000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:42955000-42990200	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:42955200-42974000	Weak transcription	Esophagus	oesophagus
25	chr15:42956000-42976400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:42956800-42973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:42957000-42976200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:42960000-42973400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:42960000-42981800	Strong transcription	Primary T cells from cord blood	blood
30	chr15:42960200-42973800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:42961000-42977600	Weak transcription	Small Intestine	intestine
32	chr15:42961200-42973800	Weak transcription	Fetal Thymus	thymus
33	chr15:42961200-42989200	Strong transcription	Ovary	ovary
34	chr15:42961400-42990800	Strong transcription	Colon Smooth Muscle	Colon
35	chr15:42961600-42989200	Weak transcription	Pancreas	Pancrea
36	chr15:42961800-42970200	Weak transcription	GM12878-XiMat	blood
37	chr15:42961800-42975000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:42962000-42974000	Weak transcription	HSMMtube	muscle
39	chr15:42963800-42976200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:42964200-42969800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:42964200-42982400	Weak transcription	A549	lung
42	chr15:42964400-42969800	Weak transcription	NHEK	skin
43	chr15:42964400-42970000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:42964600-42972200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:42964600-42972800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:42964600-42979200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:42965000-42982200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:42966000-42970000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:42966000-42970200	Strong transcription	Left Ventricle	heart
50	chr15:42966000-42972400	Strong transcription	Placenta	Placenta

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