Variant report

Variant	rs45602843
Chromosome Location	chr18:12837535-12837536
allele	A/C
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	MXI1	chr18:12837362-12838837	IMR90	lung:	n/a	n/a
2	POLR2A	chr18:12837093-12840014	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12817654..12819738-chr18:12836432..12839410,2	K562	blood:
2	chr18:12836738..12838821-chr18:12946925..12949352,2	K562	blood:
3	chr18:12836859..12842714-chr18:12880630..12885724,12	MCF-7	breast:

Variant related genes	Relation type
PTPN2	TF binding region
ENSG00000175354	Chromatin interaction
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10502414	0.87[EUR][1000 genomes]
rs10502415	0.88[EUR][1000 genomes]
rs1065630	0.83[EUR][1000 genomes]
rs16939859	0.86[EUR][1000 genomes]
rs17597893	0.90[EUR][1000 genomes]
rs17598047	0.93[EUR][1000 genomes]
rs17656120	0.86[EUR][1000 genomes]
rs17656142	0.86[EUR][1000 genomes]
rs17657106	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45458596	0.84[EUR][1000 genomes]
rs45506596	0.85[EUR][1000 genomes]
rs45510799	0.85[EUR][1000 genomes]
rs45518232	0.86[EUR][1000 genomes]
rs45518540	0.85[EUR][1000 genomes]
rs45575332	0.86[EUR][1000 genomes]
rs45576131	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45626137	0.86[EUR][1000 genomes]
rs57450722	0.88[EUR][1000 genomes]
rs57528860	0.86[EUR][1000 genomes]
rs59368414	0.88[EUR][1000 genomes]
rs59698881	0.88[EUR][1000 genomes]
rs60617398	0.86[EUR][1000 genomes]
rs73402502	0.86[EUR][1000 genomes]
rs73404411	0.87[EUR][1000 genomes]
rs73404414	0.88[EUR][1000 genomes]
rs73404420	0.88[EUR][1000 genomes]
rs73404421	0.88[EUR][1000 genomes]
rs73404424	0.88[EUR][1000 genomes]
rs73404453	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73414061	0.84[EUR][1000 genomes]
rs8084006	0.88[EUR][1000 genomes]
rs8085163	0.88[EUR][1000 genomes]
rs8088256	0.90[EUR][1000 genomes]
rs8092305	0.86[EUR][1000 genomes]
rs973767	0.88[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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
7	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
2	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
4	chr18:12809600-12838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:12809600-12838200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:12812000-12838400	Weak transcription	Right Ventricle	heart
7	chr18:12814400-12843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:12817800-12837600	Weak transcription	NH-A	brain
9	chr18:12820400-12838600	Weak transcription	Brain Angular Gyrus	brain
10	chr18:12820800-12837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:12820800-12838200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:12820800-12838200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:12821000-12840400	Weak transcription	Brain Substantia Nigra	brain
14	chr18:12821600-12839200	Weak transcription	Brain Anterior Caudate	brain
15	chr18:12821800-12851800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:12823000-12837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr18:12825400-12838200	Weak transcription	Gastric	stomach
18	chr18:12825400-12840400	Weak transcription	Spleen	Spleen
19	chr18:12825600-12838200	Weak transcription	Aorta	Aorta
20	chr18:12825600-12838200	Weak transcription	K562	blood
21	chr18:12826000-12838400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr18:12826400-12837800	Weak transcription	Fetal Brain Male	brain
23	chr18:12826800-12838200	Weak transcription	Pancreas	Pancrea
24	chr18:12827600-12838200	Weak transcription	Esophagus	oesophagus
25	chr18:12827600-12838200	Weak transcription	Small Intestine	intestine
26	chr18:12827600-12838400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:12827600-12843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:12828400-12837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr18:12828400-12837600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr18:12828400-12842600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:12828400-12856000	Weak transcription	Fetal Kidney	kidney
32	chr18:12828800-12837600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr18:12828800-12838200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:12828800-12838200	Weak transcription	Psoas Muscle	Psoas
35	chr18:12829000-12837600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:12829000-12837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:12829000-12838200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:12829000-12839200	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:12829000-12861200	Weak transcription	Fetal Brain Female	brain
40	chr18:12829000-12862600	Weak transcription	Brain Germinal Matrix	brain
41	chr18:12829200-12842200	Weak transcription	HUVEC	blood vessel
42	chr18:12829400-12838200	Weak transcription	Stomach Mucosa	stomach
43	chr18:12829600-12838400	Weak transcription	Ovary	ovary
44	chr18:12829800-12841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:12831200-12837600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:12831800-12837600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:12833800-12837600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr18:12833800-12837600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr18:12833800-12837600	Weak transcription	HSMM	muscle
50	chr18:12833800-12838200	Weak transcription	Colon Smooth Muscle	Colon

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