Variant report

Variant	rs7245113
Chromosome Location	chr18:9685268-9685269
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9684225..9686490-chr18:9771447..9773237,2	K562	blood:
2	chr18:9684711..9687111-chr18:9707682..9710394,2	MCF-7	breast:
3	chr18:9684743..9687685-chr18:9730508..9732228,2	K562	blood:
4	chr18:9682935..9686268-chr18:9874817..9878782,4	K562	blood:
5	chr18:9680525..9686114-chr18:9707690..9711025,4	MCF-7	breast:
6	chr18:9613087..9615055-chr18:9684050..9685628,2	K562	blood:
7	chr18:9610247..9612763-chr18:9683592..9685519,2	K562	blood:
8	chr18:9684157..9686085-chr18:9706260..9708212,2	K562	blood:
9	chr18:9683610..9686483-chr18:9914040..9915695,2	MCF-7	breast:
10	chr18:9680241..9682943-chr18:9684125..9686562,3	K562	blood:
11	chr18:9682384..9686964-chr18:9702727..9705542,5	K562	blood:
12	chr18:9674934..9676991-chr18:9682664..9686574,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11874157	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2156014	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4570933	0.86[CEU][hapmap]
rs55845545	0.99[ASN][1000 genomes]
rs56012533	0.98[EUR][1000 genomes]
rs56280817	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56371042	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61376711	0.99[ASN][1000 genomes]
rs61389529	0.96[EUR][1000 genomes]
rs62078889	0.96[EUR][1000 genomes]
rs62078890	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7241361	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241364	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955974	0.88[EUR][1000 genomes]
rs72955994	0.96[EUR][1000 genomes]
rs8091319	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8095340	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9953380	0.95[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.91[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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7245113	TWSG1	cis	lymphoblastoid	seeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9659800-9685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9683000-9685800	Enhancers	Hela-S3	cervix
3	chr18:9683200-9685600	Enhancers	NH-A	brain
4	chr18:9683400-9685600	Enhancers	Right Atrium	heart
5	chr18:9683400-9685800	Enhancers	Brain Hippocampus Middle	brain
6	chr18:9683400-9686000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr18:9683600-9685400	Enhancers	Brain Cingulate Gyrus	brain
8	chr18:9683600-9685400	Enhancers	Rectal Smooth Muscle	rectum
9	chr18:9683600-9685600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:9683600-9685600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:9683600-9685600	Enhancers	Colon Smooth Muscle	Colon
12	chr18:9683600-9685600	Enhancers	HMEC	breast
13	chr18:9683600-9685800	Flanking Active TSS	K562	blood
14	chr18:9683600-9686000	Enhancers	Fetal Muscle Leg	muscle
15	chr18:9683600-9686000	Enhancers	Placenta	Placenta
16	chr18:9683600-9686400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr18:9683800-9685400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr18:9683800-9685600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:9683800-9685600	Enhancers	Brain Anterior Caudate	brain
20	chr18:9683800-9685600	Enhancers	A549	lung
21	chr18:9683800-9685600	Enhancers	GM12878-XiMat	blood
22	chr18:9683800-9685800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr18:9683800-9685800	Enhancers	Fetal Lung	lung
24	chr18:9683800-9686000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr18:9683800-9686000	Enhancers	Primary hematopoietic stem cells	blood
26	chr18:9684000-9685600	Enhancers	Brain Substantia Nigra	brain
27	chr18:9684000-9686000	Enhancers	Fetal Thymus	thymus
28	chr18:9684000-9688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:9684200-9685400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:9684200-9685400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:9684200-9685400	Enhancers	Brain Angular Gyrus	brain
32	chr18:9684200-9685600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:9684200-9685600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:9684200-9685600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:9684200-9687600	Weak transcription	NHEK	skin
36	chr18:9684200-9688000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:9684200-9688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr18:9684200-9688200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:9684200-9688200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr18:9684200-9688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:9684400-9685400	Weak transcription	Fetal Heart	heart
42	chr18:9684400-9685600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr18:9684400-9685600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr18:9684400-9685600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr18:9684400-9685600	Flanking Active TSS	Osteobl	bone
46	chr18:9684600-9685400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr18:9684600-9685600	Enhancers	Thymus	Thymus
48	chr18:9684600-9685600	Flanking Active TSS	Dnd41	blood
49	chr18:9684800-9685600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr18:9684800-9685600	Enhancers	Left Ventricle	heart

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