Variant report

Variant	rs34983450
Chromosome Location	chr10:49726671-49726672
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49561490..49563240-chr10:49725537..49727058,2	K562	blood:
2	chr10:49683409..49685423-chr10:49724678..49727528,2	K562	blood:
3	chr10:49660046..49662024-chr10:49725429..49726985,2	K562	blood:
4	chr10:49713648..49715470-chr10:49724741..49727947,3	K562	blood:
5	chr10:49725899..49728759-chr10:49729090..49732756,3	MCF-7	breast:
6	chr10:49725693..49727830-chr10:49743883..49745489,2	K562	blood:
7	chr10:49715470..49718862-chr10:49725582..49728629,3	K562	blood:
8	chr10:49667304..49669133-chr10:49726390..49728865,2	K562	blood:
9	chr10:49401868..49404679-chr10:49725799..49728201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491040	0.81[ASN][1000 genomes]
rs10776614	0.86[ASN][1000 genomes]
rs10776615	0.86[ASN][1000 genomes]
rs10857592	1.00[ASN][1000 genomes]
rs10857596	0.86[ASN][1000 genomes]
rs10857598	0.81[ASN][1000 genomes]
rs11101362	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101364	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101368	1.00[ASN][1000 genomes]
rs11101377	0.81[ASN][1000 genomes]
rs11101381	0.86[ASN][1000 genomes]
rs11591281	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12358311	0.86[ASN][1000 genomes]
rs12358315	0.86[ASN][1000 genomes]
rs12412164	0.81[ASN][1000 genomes]
rs1345109	0.86[ASN][1000 genomes]
rs1345110	0.86[ASN][1000 genomes]
rs1345111	0.86[ASN][1000 genomes]
rs1445148	0.86[ASN][1000 genomes]
rs1445154	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1838568	0.86[ASN][1000 genomes]
rs1838569	0.86[ASN][1000 genomes]
rs1838570	0.86[ASN][1000 genomes]
rs1838573	0.93[ASN][1000 genomes]
rs1838574	0.90[ASN][1000 genomes]
rs1900021	0.93[ASN][1000 genomes]
rs1965170	0.86[ASN][1000 genomes]
rs2077152	0.86[ASN][1000 genomes]
rs4084916	0.81[ASN][1000 genomes]
rs4101278	0.93[ASN][1000 genomes]
rs41510345	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4450130	1.00[ASN][1000 genomes]
rs4838617	0.81[ASN][1000 genomes]
rs56058334	0.86[ASN][1000 genomes]
rs56080723	0.93[ASN][1000 genomes]
rs56248718	0.93[ASN][1000 genomes]
rs57601353	1.00[ASN][1000 genomes]
rs60214846	0.80[ASN][1000 genomes]
rs66695288	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67372461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071095	0.86[ASN][1000 genomes]
rs7071480	0.86[ASN][1000 genomes]
rs7074631	0.86[ASN][1000 genomes]
rs7085183	0.86[ASN][1000 genomes]
rs7085335	0.84[ASN][1000 genomes]
rs7088010	0.86[ASN][1000 genomes]
rs7089439	0.95[ASN][1000 genomes]
rs7094216	0.86[ASN][1000 genomes]
rs7098068	0.86[ASN][1000 genomes]
rs72785120	0.93[ASN][1000 genomes]
rs7350424	0.86[ASN][1000 genomes]
rs7350439	0.86[ASN][1000 genomes]
rs7904456	0.86[ASN][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:49721400-49732000	Weak transcription	HMEC	breast
5	chr10:49723800-49727200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:49723800-49729600	Weak transcription	HSMM	muscle
7	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
8	chr10:49724200-49726800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:49724800-49728000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:49725000-49727200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr10:49725000-49730000	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:49725400-49727000	Enhancers	GM12878-XiMat	blood
13	chr10:49725400-49727400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:49725400-49728400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:49725400-49730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:49725600-49727000	Enhancers	Pancreas	Pancrea
17	chr10:49725600-49727000	Strong transcription	NHLF	lung
18	chr10:49725600-49728000	Enhancers	Primary B cells from peripheral blood	blood
19	chr10:49725800-49727000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:49725800-49730200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:49726000-49729200	Enhancers	Fetal Thymus	thymus
22	chr10:49726200-49726800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:49726200-49727200	Enhancers	Adipose Nuclei	Adipose
24	chr10:49726200-49727600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:49726200-49727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:49726200-49729000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr10:49726400-49726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:49726400-49727000	Enhancers	Fetal Muscle Leg	muscle
29	chr10:49726400-49727200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:49726400-49727200	Enhancers	Fetal Brain Female	brain
31	chr10:49726400-49727400	Weak transcription	Primary B cells from cord blood	blood
32	chr10:49726400-49727800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr10:49726600-49726800	Bivalent Enhancer	Lung	lung
34	chr10:49726600-49726800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr10:49726600-49727000	Bivalent Enhancer	HepG2	liver
36	chr10:49726600-49727200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr10:49726600-49727200	Genic enhancers	K562	blood
38	chr10:49726600-49727400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr10:49726600-49727400	Enhancers	Osteobl	bone
40	chr10:49726600-49728000	Enhancers	Brain Hippocampus Middle	brain
41	chr10:49726600-49728800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:49726600-49729000	Enhancers	NHDF-Ad	bronchial

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