Variant report

Variant	rs4343349
Chromosome Location	chr18:9405031-9405032
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9404903..9406834-chr18:9422722..9425221,2	K562	blood:
2	chr18:9403620..9407006-chr18:9414651..9419488,7	K562	blood:
3	chr18:9334529..9336370-chr18:9404917..9406720,2	K562	blood:
4	chr18:9400916..9402861-chr18:9404497..9406398,2	K562	blood:
5	chr18:9403556..9405805-chr18:9474208..9475732,2	K562	blood:
6	chr18:9333321..9335278-chr18:9403311..9405898,2	K562	blood:
7	chr18:9403357..9405145-chr18:9454167..9455721,2	K562	blood:
8	chr18:9403602..9406449-chr18:9432221..9434991,2	K562	blood:
9	chr18:9404955..9406472-chr18:9406848..9409026,2	K562	blood:
10	chr18:9404554..9406129-chr18:9536723..9538920,2	K562	blood:
11	chr18:9404638..9407213-chr18:9506119..9508362,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000266805	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs4503865	0.95[EUR][1000 genomes]
rs4797368	0.95[EUR][1000 genomes]
rs55637024	0.95[EUR][1000 genomes]
rs56124420	0.95[EUR][1000 genomes]
rs57456386	0.83[EUR][1000 genomes]
rs62087494	0.83[EUR][1000 genomes]
rs6506663	0.95[EUR][1000 genomes]
rs7229150	0.89[EUR][1000 genomes]
rs7233757	0.81[EUR][1000 genomes]
rs8089405	0.90[EUR][1000 genomes]
rs8093792	0.85[EUR][1000 genomes]
rs8096040	0.80[EUR][1000 genomes]
rs8098412	0.97[EUR][1000 genomes]
rs8098532	0.97[EUR][1000 genomes]
rs9676006	0.81[EUR][1000 genomes]
rs9748497	0.80[EUR][1000 genomes]
rs9748605	0.83[EUR][1000 genomes]
rs9962807	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4343349	TWSG1	cis	Artery Tibial	GTEx
rs4343349	TWSG1	Cis_1M	lymphoblastoid	RTeQTL
rs4343349	TWSG1	cis	Esophagus Muscularis	GTEx
rs4343349	TWSG1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
2	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
3	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:9389400-9405400	Weak transcription	Lung	lung
5	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
7	chr18:9395000-9405600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:9395600-9406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:9396600-9413800	Weak transcription	NH-A	brain
10	chr18:9397200-9413600	Weak transcription	HSMMtube	muscle
11	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:9397400-9406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:9397800-9416600	Weak transcription	HSMM	muscle
14	chr18:9399600-9413600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:9400600-9413400	Weak transcription	Osteobl	bone
16	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
17	chr18:9400800-9408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:9401000-9408600	Weak transcription	NHEK	skin
19	chr18:9401400-9406000	Weak transcription	Brain Substantia Nigra	brain
20	chr18:9401400-9413800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:9401600-9413600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:9403000-9406400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:9403200-9405200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:9403200-9405200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:9403200-9408400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr18:9403400-9407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:9403800-9405400	Flanking Active TSS	K562	blood
28	chr18:9404000-9405400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:9404000-9410200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:9404000-9413000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:9404000-9416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:9404200-9405200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr18:9404200-9405200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr18:9404200-9405400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr18:9404400-9405200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:9404400-9405200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr18:9404400-9405200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr18:9404400-9405200	Enhancers	Fetal Muscle Trunk	muscle
39	chr18:9404400-9406400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:9404600-9405400	Flanking Active TSS	HUVEC	blood vessel
41	chr18:9404800-9405200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr18:9404800-9405200	Enhancers	Adipose Nuclei	Adipose
43	chr18:9404800-9405200	Strong transcription	Fetal Brain Female	brain
44	chr18:9404800-9405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:9405000-9405200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr18:9405000-9405200	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr18:9405000-9405200	Enhancers	Fetal Muscle Leg	muscle
48	chr18:9405000-9406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr18:9405000-9412600	Weak transcription	Fetal Stomach	stomach
50	chr18:9405000-9417000	Weak transcription	Right Atrium	heart

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