Variant report

Variant	rs11015443
Chromosome Location	chr10:18950174-18950175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:18949720-18950309	K562	blood:	n/a	n/a
2	POLR2A	chr10:18950074-18951237	K562	blood:	n/a	n/a
3	CHD1	chr10:18946884-18951792	IMR90	lung:	n/a	chr10:18948546-18948556 chr10:18948735-18948745
4	POLR2A	chr10:18949923-18951350	HepG2	liver:	n/a	n/a
5	POLR2A	chr10:18946803-18951639	IMR90	lung:	n/a	n/a
6	POLR2A	chr10:18950131-18950271	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:18950108-18951270	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:18950080-18951470	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:18938647..18942217-chr10:18945513..18950534,9	MCF-7	breast:
2	chr10:18949169..18950743-chr10:20135931..20138598,2	MCF-7	breast:
3	chr10:18909074..18910706-chr10:18949247..18951149,2	K562	blood:
4	chr10:18937279..18942257-chr10:18944156..18951752,16	MCF-7	breast:

Variant related genes	Relation type
ARL5B-AS1	TF binding region
ENSG00000241058	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10466095	0.93[AFR][1000 genomes]
rs10508564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11014986	0.80[AFR][1000 genomes]
rs11014994	0.89[AFR][1000 genomes]
rs11015019	0.92[AFR][1000 genomes]
rs11015036	0.92[AFR][1000 genomes]
rs11015184	0.92[AFR][1000 genomes]
rs11015254	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11015323	0.83[AMR][1000 genomes]
rs11498244	0.81[AFR][1000 genomes]
rs12246317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247869	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12250601	0.93[AFR][1000 genomes]
rs12255014	0.87[AFR][1000 genomes]
rs12258306	0.93[AFR][1000 genomes]
rs12258688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12267659	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12269605	0.97[AFR][1000 genomes]
rs16917589	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16917615	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16917628	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17363677	0.92[AFR][1000 genomes]
rs28794621	1.00[AMR][1000 genomes]
rs4614337	0.97[AFR][1000 genomes]
rs59666381	0.80[AFR][1000 genomes]
rs7088674	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7100918	0.90[AFR][1000 genomes];0.83[AMR][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	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
2	nsv466762	chr10:18932172-18976659	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv550121	chr10:18932172-18976659	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr10:18946800-18950600	Active TSS	GM12878-XiMat	blood
2	chr10:18947000-18950200	Active TSS	Colonic Mucosa	Colon
3	chr10:18947000-18950200	Active TSS	HSMM	muscle
4	chr10:18947000-18951200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:18947200-18950200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:18947200-18950400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:18947200-18950600	Active TSS	K562	blood
8	chr10:18947400-18950600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr10:18947400-18950600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr10:18947400-18951600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:18947600-18950200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr10:18947800-18950200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr10:18947800-18950400	Active TSS	HSMMtube	muscle
14	chr10:18947800-18950600	Active TSS	NHLF	lung
15	chr10:18948000-18950200	Active TSS	Osteobl	bone
16	chr10:18948000-18950600	Active TSS	NH-A	brain
17	chr10:18948800-18950200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr10:18948800-18950400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr10:18948800-18950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:18948800-18950600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:18948800-18950600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:18948800-18951200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:18949000-18954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:18949400-18950400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:18949400-18950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:18949400-18950800	Active TSS	HepG2	liver
27	chr10:18949400-18951000	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:18949400-18951200	Enhancers	Brain Substantia Nigra	brain
29	chr10:18949400-18951400	Flanking Active TSS	Dnd41	blood
30	chr10:18949400-18973200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:18949600-18950200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:18949600-18950200	Enhancers	Primary hematopoietic stem cells	blood
33	chr10:18949600-18950200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:18949600-18950200	Flanking Active TSS	Fetal Brain Female	brain
35	chr10:18949600-18950200	Enhancers	Placenta	Placenta
36	chr10:18949600-18950200	Enhancers	Lung	lung
37	chr10:18949600-18950200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr10:18949600-18950200	Weak transcription	A549	lung
39	chr10:18949600-18950400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:18949600-18950400	Enhancers	Brain Angular Gyrus	brain
41	chr10:18949600-18950600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:18949600-18950800	Enhancers	Ovary	ovary
43	chr10:18949600-18951000	Enhancers	Primary B cells from cord blood	blood
44	chr10:18949600-18951000	Enhancers	Aorta	Aorta
45	chr10:18949600-18951000	Enhancers	Brain Anterior Caudate	brain
46	chr10:18949600-18951000	Enhancers	Esophagus	oesophagus
47	chr10:18949600-18951000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:18949600-18951200	Enhancers	Gastric	stomach
49	chr10:18949600-18951200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr10:18949600-18951400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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