Variant report

Variant	rs11663194
Chromosome Location	chr18:43735266-43735267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43734389..43736469-chr18:43738925..43741638,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11664314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11664534	0.84[ASN][1000 genomes]
rs12954405	0.84[ASN][1000 genomes]
rs12956229	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12959909	0.84[ASN][1000 genomes]
rs28532950	0.83[ASN][1000 genomes]
rs28757346	0.83[ASN][1000 genomes]
rs36111316	0.84[ASN][1000 genomes]
rs9304329	0.83[ASN][1000 genomes]
rs9304330	0.83[ASN][1000 genomes]
rs9946983	0.84[ASN][1000 genomes]
rs9950562	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
3	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
4	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
5	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
7	chr18:43714000-43748400	Weak transcription	Ovary	ovary
8	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
9	chr18:43728600-43735600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:43728600-43735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr18:43728800-43735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr18:43728800-43735600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr18:43730200-43736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:43731800-43735600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr18:43732000-43735600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr18:43732000-43735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:43732000-43735600	Enhancers	Dnd41	blood
18	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr18:43732200-43735600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr18:43732600-43739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:43732800-43735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr18:43733000-43735400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:43733000-43737200	Enhancers	HSMMtube	muscle
24	chr18:43733200-43735400	Weak transcription	Fetal Thymus	thymus
25	chr18:43733200-43735400	Weak transcription	NHLF	lung
26	chr18:43733200-43736800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:43733200-43740600	Enhancers	HMEC	breast
29	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr18:43733400-43736400	Weak transcription	Esophagus	oesophagus
31	chr18:43733600-43735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:43733600-43735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:43733600-43735800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:43733600-43735800	Weak transcription	A549	lung
35	chr18:43733600-43736200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:43733600-43738400	Weak transcription	Fetal Heart	heart
37	chr18:43733600-43738400	Weak transcription	Left Ventricle	heart
38	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:43733800-43735400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr18:43733800-43735800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:43733800-43737200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr18:43733800-43738000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr18:43733800-43738400	Enhancers	Hela-S3	cervix
45	chr18:43733800-43744200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:43733800-43746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:43734000-43735600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr18:43734200-43735600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:43734200-43735600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr18:43734200-43746200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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