Variant report

Variant	rs1439618
Chromosome Location	chr15:93449969-93449970
allele	C/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	chr15:93448445..93452273-chr15:93477513..93479275,3	K562	blood:
2	chr15:93448445..93451648-chr15:93477513..93481560,4	K562	blood:
3	chr15:93368093..93370733-chr15:93448780..93451339,2	K562	blood:
4	chr15:93449029..93450557-chr15:93479998..93482780,2	MCF-7	breast:
5	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
6	chr15:93449371..93451319-chr15:93496331..93498149,2	K562	blood:
7	chr15:93447864..93450359-chr15:93471723..93473623,2	K562	blood:
8	chr15:93448445..93450159-chr15:93483633..93486212,2	MCF-7	breast:
9	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
10	chr15:93449170..93452167-chr15:93535193..93537648,2	K562	blood:
11	chr15:93375453..93377764-chr15:93448296..93450344,2	MCF-7	breast:
12	chr15:93413469..93415304-chr15:93448158..93450085,2	K562	blood:
13	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
14	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258922	Chromatin interaction
ENSG00000258527	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000173575	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10852185	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11074119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1143115	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592113	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12594492	0.84[ASN][1000 genomes]
rs12903587	0.83[ASW][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs12904071	0.82[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12907473	0.86[EUR][1000 genomes]
rs12908968	0.83[ASW][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1439619	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35782805	0.87[ASN][1000 genomes]
rs3826037	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4146836	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4146837	0.94[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7170052	0.82[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1439618	FAM174B	cis	cerebellum	SCAN
rs1439618	ZNF710	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93443200-93450000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr15:93443200-93450000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr15:93443400-93450000	Active TSS	Right Atrium	heart
4	chr15:93446200-93450200	Active TSS	Liver	Liver
5	chr15:93446800-93450400	Active TSS	Stomach Smooth Muscle	stomach
6	chr15:93447400-93450000	Active TSS	K562	blood
7	chr15:93447600-93450600	Weak transcription	Spleen	Spleen
8	chr15:93448000-93450800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr15:93448000-93451200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:93448000-93451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:93448000-93452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:93448000-93452000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:93448000-93452000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:93448000-93452000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr15:93448000-93452000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:93448000-93452800	Flanking Active TSS	HUVEC	blood vessel
17	chr15:93448200-93451200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:93448200-93451200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr15:93448200-93451200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr15:93448200-93451200	Flanking Active TSS	NH-A	brain
21	chr15:93448200-93452200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr15:93448200-93456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:93448400-93450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:93448400-93451200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:93448400-93451800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:93448400-93452000	Flanking Active TSS	NHDF-Ad	bronchial
27	chr15:93448600-93450600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:93448600-93451200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr15:93448600-93451600	Weak transcription	Colonic Mucosa	Colon
30	chr15:93448600-93451800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:93448600-93452000	Weak transcription	Esophagus	oesophagus
32	chr15:93448600-93452000	Weak transcription	Pancreas	Pancrea
33	chr15:93448600-93452200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr15:93448600-93452800	Weak transcription	Lung	lung
35	chr15:93448600-93454000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr15:93448600-93457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:93448600-93459200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr15:93448800-93450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:93448800-93450000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:93448800-93450000	Active TSS	Thymus	Thymus
41	chr15:93448800-93450200	Active TSS	GM12878-XiMat	blood
42	chr15:93448800-93450600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr15:93448800-93450600	Active TSS	Primary T cells fromperipheralblood	blood
44	chr15:93448800-93450600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr15:93448800-93450800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:93448800-93451000	Enhancers	Fetal Intestine Large	intestine
47	chr15:93448800-93451000	Enhancers	Fetal Intestine Small	intestine
48	chr15:93448800-93451000	Weak transcription	Placenta	Placenta
49	chr15:93448800-93451000	Enhancers	Fetal Stomach	stomach
50	chr15:93448800-93451000	Weak transcription	Left Ventricle	heart

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