Variant report

Variant	rs8095681
Chromosome Location	chr18:9083702-9083703
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9083562..9086099-chr18:9089409..9093544,4	K562	blood:
2	chr18:9079082..9081676-chr18:9082286..9085195,2	MCF-7	breast:
3	chr18:9079451..9081477-chr18:9081870..9084063,2	K562	blood:
4	chr18:9082088..9083716-chr18:9134364..9137304,2	MCF-7	breast:
5	chr18:9081658..9085593-chr18:9135853..9138394,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4798765	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4798766	0.87[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.85[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	esv1832073	chr18:9048118-9094498	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv523325	chr18:9083702-9088650	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8095681	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9079400-9084800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr18:9081200-9088000	Weak transcription	HepG2	liver
3	chr18:9081600-9086200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr18:9082000-9084200	Enhancers	Primary T cells from cord blood	blood
5	chr18:9082000-9084800	Enhancers	Primary hematopoietic stem cells	blood
6	chr18:9082400-9084000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr18:9082400-9084600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr18:9082600-9083800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr18:9082600-9084000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr18:9082600-9084400	Enhancers	Primary B cells from peripheral blood	blood
11	chr18:9082600-9084400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr18:9082800-9083800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr18:9082800-9084200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:9082800-9084800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr18:9083200-9084800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr18:9083400-9084000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr18:9083400-9084200	Weak transcription	Fetal Thymus	thymus
18	chr18:9083400-9084200	Enhancers	GM12878-XiMat	blood
19	chr18:9083400-9084400	Enhancers	Primary B cells from cord blood	blood
20	chr18:9083400-9085800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:9083400-9086000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr18:9083400-9087200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:9083400-9090200	Weak transcription	K562	blood
24	chr18:9083400-9090600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:9083400-9095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:9083400-9095200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:9083400-9097200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:9083600-9084000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr18:9083600-9084000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:9083600-9084000	Weak transcription	Placenta	Placenta
31	chr18:9083600-9088000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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