Variant report

Variant	rs11599746
Chromosome Location	chr10:49730026-49730027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
2	chr10:49514209..49516197-chr10:49729789..49731994,3	K562	blood:
3	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
4	chr10:49655464..49657774-chr10:49727812..49730499,2	K562	blood:
5	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:
6	chr10:49514209..49515853-chr10:49729935..49731994,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72785105	0.86[EUR][1000 genomes]
rs72785128	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49721400-49732000	Weak transcription	HMEC	breast
3	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
4	chr10:49725400-49730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:49725800-49730200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:49727000-49731000	Weak transcription	Pancreas	Pancrea
7	chr10:49727400-49730200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:49727800-49730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:49728000-49730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:49728000-49730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:49728200-49730200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:49728200-49731000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:49728400-49731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:49728600-49730200	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:49728800-49730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:49729000-49730600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:49729000-49731000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:49729000-49731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:49729600-49730200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:49729600-49730600	Enhancers	Osteobl	bone
21	chr10:49729600-49731000	Enhancers	NHDF-Ad	bronchial
22	chr10:49729600-49731000	Enhancers	NHLF	lung
23	chr10:49729600-49731200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr10:49729600-49731200	Enhancers	HSMM	muscle
25	chr10:49729600-49731200	Enhancers	HSMMtube	muscle
26	chr10:49729800-49730600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:49729800-49731000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:49729800-49731000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:49729800-49731000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:49729800-49731200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:49729800-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:49730000-49730200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr10:49730000-49730200	Transcr. at gene 5' and 3'	K562	blood
34	chr10:49730000-49730400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
35	chr10:49730000-49731000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:49730000-49731200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:49730000-49731200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:49730000-49731200	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr10:49730000-49731800	Enhancers	Brain Angular Gyrus	brain
40	chr10:49730000-49731800	Enhancers	Brain Substantia Nigra	brain

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