Variant report

Variant	rs8093378
Chromosome Location	chr18:9336740-9336741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9336509..9338927-chr18:9340961..9343799,3	MCF-7	breast:
2	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
3	chr18:9321590..9324393-chr18:9335176..9336771,2	K562	blood:
4	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction
ENSG00000273335	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11875065	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12456325	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12457923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12458365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16954989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16954996	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34741369	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56349417	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57333366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57456386	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62087465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62087466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62087472	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62087494	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7229150	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7233757	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8088103	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8093683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9676006	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9748497	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9748605	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8093378	TWSG1	cis	Muscle Skeletal	GTEx
rs8093378	TWSG1	Cis_1M	lymphoblastoid	RTeQTL
rs8093378	TWSG1	cis	Artery Tibial	GTEx
rs8093378	TWSG1	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9334000-9337000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr18:9334200-9337000	Active TSS	GM12878-XiMat	blood
3	chr18:9335400-9339400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:9335400-9340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:9335400-9347800	Weak transcription	Small Intestine	intestine
6	chr18:9335400-9369400	Weak transcription	Pancreas	Pancrea
7	chr18:9335400-9371400	Weak transcription	Gastric	stomach
8	chr18:9335600-9337800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:9335600-9338000	Weak transcription	Stomach Mucosa	stomach
10	chr18:9335600-9339400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:9335600-9343800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:9335600-9366200	Weak transcription	Left Ventricle	heart
13	chr18:9335600-9372600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr18:9335800-9337200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:9335800-9337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:9335800-9337400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:9335800-9337600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr18:9335800-9337800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr18:9335800-9337800	Weak transcription	Fetal Intestine Large	intestine
20	chr18:9335800-9337800	Weak transcription	Placenta	Placenta
21	chr18:9335800-9338400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr18:9335800-9338600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:9335800-9338800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr18:9335800-9340600	Weak transcription	Liver	Liver
25	chr18:9335800-9341400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr18:9335800-9341400	Weak transcription	Spleen	Spleen
27	chr18:9335800-9341800	Weak transcription	Right Atrium	heart
28	chr18:9335800-9342600	Weak transcription	Right Ventricle	heart
29	chr18:9335800-9343600	Weak transcription	Primary B cells from cord blood	blood
30	chr18:9335800-9343600	Weak transcription	Primary T cells from cord blood	blood
31	chr18:9335800-9343800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:9335800-9344000	Weak transcription	Esophagus	oesophagus
33	chr18:9335800-9345200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:9335800-9348000	Weak transcription	Psoas Muscle	Psoas
35	chr18:9335800-9348200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr18:9335800-9348400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr18:9335800-9348400	Weak transcription	Thymus	Thymus
38	chr18:9335800-9357600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:9335800-9366200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr18:9335800-9367600	Weak transcription	Fetal Thymus	thymus
41	chr18:9335800-9367600	Weak transcription	Lung	lung
42	chr18:9335800-9370200	Weak transcription	Adipose Nuclei	Adipose
43	chr18:9336000-9336800	Enhancers	Fetal Kidney	kidney
44	chr18:9336000-9337200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:9336000-9337200	Weak transcription	NH-A	brain
46	chr18:9336000-9337400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:9336000-9337400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:9336000-9337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr18:9336000-9337800	Enhancers	Brain Germinal Matrix	brain
50	chr18:9336000-9337800	Weak transcription	Brain Substantia Nigra	brain

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