Variant report

Variant	rs56376849
Chromosome Location	chr18:9381064-9381065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11081472	0.81[EUR][1000 genomes]
rs12455538	0.83[EUR][1000 genomes]
rs16955061	0.84[EUR][1000 genomes]
rs172931	1.00[AFR][1000 genomes]
rs328998	1.00[AFR][1000 genomes]
rs329003	1.00[AFR][1000 genomes]
rs8083808	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	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	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56376849	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9341200-9391400	Weak transcription	Liver	Liver
2	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
4	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
6	chr18:9366600-9389400	Weak transcription	HSMM	muscle
7	chr18:9366600-9390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:9366600-9390800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:9366600-9396200	Weak transcription	NH-A	brain
10	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
11	chr18:9366800-9390600	Weak transcription	HUVEC	blood vessel
12	chr18:9366800-9397000	Weak transcription	NHEK	skin
13	chr18:9367800-9385400	Weak transcription	Lung	lung
14	chr18:9367800-9390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:9367800-9395600	Weak transcription	Left Ventricle	heart
16	chr18:9368200-9389400	Weak transcription	GM12878-XiMat	blood
17	chr18:9368200-9390400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr18:9368200-9390600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:9368400-9397200	Weak transcription	Placenta	Placenta
20	chr18:9368600-9381200	Weak transcription	Fetal Kidney	kidney
21	chr18:9368600-9389400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:9368600-9390200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:9368600-9390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:9368600-9390400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:9370000-9390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:9373200-9389400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:9376600-9390000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:9377400-9389400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:9379400-9389400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:9379800-9381400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:9380000-9381200	Enhancers	Brain Germinal Matrix	brain
32	chr18:9380000-9381200	Enhancers	Colon Smooth Muscle	Colon
33	chr18:9380000-9381400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:9380000-9381400	Enhancers	Brain Hippocampus Middle	brain
35	chr18:9380000-9381400	Enhancers	Fetal Brain Male	brain
36	chr18:9380000-9382000	Enhancers	Fetal Stomach	stomach
37	chr18:9380200-9381200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr18:9380200-9381200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:9380200-9381200	Enhancers	Osteobl	bone
40	chr18:9380200-9381400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr18:9380200-9381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:9380200-9381400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:9380200-9381400	Enhancers	Brain Anterior Caudate	brain
44	chr18:9380200-9381400	Enhancers	Brain Substantia Nigra	brain
45	chr18:9380200-9381400	Enhancers	Rectal Smooth Muscle	rectum
46	chr18:9380200-9381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:9380200-9382000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr18:9380400-9381200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:9380400-9381400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr18:9380400-9381400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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