Variant report

Variant	rs9944637
Chromosome Location	chr18:43655239-43655240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:43655089-43655256	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43653881..43655599-chr18:43657132..43659332,2	K562	blood:

Variant related genes	Relation type
PSTPIP2	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11082509	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11082510	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11659357	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11659795	0.92[EUR][1000 genomes]
rs11661945	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11664764	0.90[EUR][1000 genomes]
rs11872954	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11872985	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11874712	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12052031	0.83[ASN][1000 genomes]
rs12954944	0.94[EUR][1000 genomes]
rs12955201	0.96[ASN][1000 genomes]
rs12959752	0.96[ASN][1000 genomes]
rs12961167	0.87[ASN][1000 genomes]
rs12963615	0.96[ASN][1000 genomes]
rs13381709	0.91[EUR][1000 genomes]
rs1800637	0.91[EUR][1000 genomes]
rs1800639	0.91[EUR][1000 genomes]
rs1800640	0.91[EUR][1000 genomes]
rs2298787	0.91[EUR][1000 genomes]
rs28457840	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28504655	0.93[EUR][1000 genomes]
rs28699609	0.91[EUR][1000 genomes]
rs34003734	0.87[ASN][1000 genomes]
rs34907121	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35507656	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3765636	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56075249	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56181324	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62096500	0.90[EUR][1000 genomes]
rs7230064	0.86[EUR][1000 genomes]
rs7235373	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7244921	0.92[EUR][1000 genomes]
rs7244950	0.91[EUR][1000 genomes]
rs7359798	0.96[ASN][1000 genomes]
rs7359800	0.96[ASN][1000 genomes]
rs8083998	0.91[EUR][1000 genomes]
rs8085444	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8085743	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8088881	0.94[EUR][1000 genomes]
rs8089150	0.91[EUR][1000 genomes]
rs8091452	0.86[EUR][1000 genomes]
rs8092674	0.92[EUR][1000 genomes]
rs8093880	0.92[EUR][1000 genomes]
rs8094902	0.92[EUR][1000 genomes]
rs8095031	0.92[EUR][1000 genomes]
rs8095608	0.90[EUR][1000 genomes]
rs8097521	0.82[EUR][1000 genomes]
rs9304326	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9304327	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9304328	0.92[EUR][1000 genomes]
rs9783884	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9783887	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9783888	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9807399	0.96[ASN][1000 genomes]
rs9945606	0.91[EUR][1000 genomes]
rs9945751	0.91[EUR][1000 genomes]
rs9947908	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954278	0.91[EUR][1000 genomes]
rs9961065	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9962380	0.90[EUR][1000 genomes]
rs9962458	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	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
4	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43651400-43657400	Weak transcription	A549	lung
2	chr18:43651600-43657600	Weak transcription	Dnd41	blood
3	chr18:43652200-43659600	Weak transcription	Small Intestine	intestine
4	chr18:43652600-43656800	Weak transcription	NHEK	skin
5	chr18:43652600-43657000	Weak transcription	GM12878-XiMat	blood
6	chr18:43652600-43657400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43652600-43657400	Weak transcription	Brain Anterior Caudate	brain
8	chr18:43652600-43657400	Weak transcription	Thymus	Thymus
9	chr18:43652600-43657400	Weak transcription	HSMMtube	muscle
10	chr18:43652600-43657600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:43652600-43657600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:43652600-43657600	Weak transcription	Brain Substantia Nigra	brain
13	chr18:43652600-43657600	Weak transcription	Right Atrium	heart
14	chr18:43652600-43657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr18:43652600-43657800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:43652600-43660000	Weak transcription	Brain Angular Gyrus	brain
17	chr18:43652600-43662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:43652600-43662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:43652600-43663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:43652600-43663200	Weak transcription	Esophagus	oesophagus
21	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
22	chr18:43652800-43656200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:43652800-43657200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:43652800-43657400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:43652800-43657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:43652800-43657400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr18:43652800-43657600	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:43652800-43657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:43652800-43659000	Weak transcription	HUVEC	blood vessel
30	chr18:43652800-43659400	Weak transcription	Hela-S3	cervix
31	chr18:43652800-43662600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:43652800-43664000	Weak transcription	K562	blood
33	chr18:43653000-43656800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr18:43653000-43657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:43653000-43657400	Weak transcription	Placenta	Placenta
36	chr18:43653000-43657600	Weak transcription	Fetal Intestine Small	intestine
37	chr18:43653000-43658800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr18:43653000-43659000	Weak transcription	Fetal Intestine Large	intestine
39	chr18:43653000-43662600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr18:43653000-43663000	Weak transcription	Fetal Brain Male	brain
41	chr18:43653200-43659200	Weak transcription	NHDF-Ad	bronchial
42	chr18:43653200-43663200	Weak transcription	Psoas Muscle	Psoas
43	chr18:43653400-43657200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr18:43653400-43657200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr18:43653600-43655400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:43653600-43656800	Weak transcription	Fetal Heart	heart
48	chr18:43653600-43657000	Weak transcription	Colon Smooth Muscle	Colon
49	chr18:43653600-43657000	Weak transcription	Fetal Brain Female	brain
50	chr18:43653600-43657200	Weak transcription	Primary B cells from peripheral blood	blood

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