Variant report

Variant	rs56275159
Chromosome Location	chr18:44630702-44630703
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	POLR2A	chr18:44623605-44630856	K562	blood:	n/a	n/a
2	POLR2A	chr18:44630660-44630719	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000267724	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs14524	0.85[AFR][1000 genomes]
rs55887101	0.85[AFR][1000 genomes]
rs56158609	0.86[AFR][1000 genomes]
rs56228796	0.84[AFR][1000 genomes]
rs56267001	1.00[AFR][1000 genomes]
rs56394933	1.00[AFR][1000 genomes]
rs57070137	0.86[AFR][1000 genomes]
rs57907962	1.00[AFR][1000 genomes]
rs58475024	0.85[AFR][1000 genomes]
rs61366727	1.00[AFR][1000 genomes]
rs61546346	1.00[AFR][1000 genomes]
rs73954224	1.00[AFR][1000 genomes]
rs73954226	1.00[AFR][1000 genomes]
rs73954227	1.00[AFR][1000 genomes]
rs73954228	1.00[AFR][1000 genomes]
rs73954229	0.81[AFR][1000 genomes]
rs73954230	0.93[AFR][1000 genomes]
rs73954235	1.00[AFR][1000 genomes]
rs73954236	1.00[AFR][1000 genomes]
rs73954240	1.00[AFR][1000 genomes]
rs73954241	1.00[AFR][1000 genomes]
rs73954242	0.85[AFR][1000 genomes]
rs73954244	0.85[AFR][1000 genomes]
rs73954245	0.85[AFR][1000 genomes]
rs73954250	0.85[AFR][1000 genomes]
rs73954257	0.85[AFR][1000 genomes]
rs73954261	0.85[AFR][1000 genomes]
rs73954289	0.85[AFR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44604800-44630800	Weak transcription	Brain Hippocampus Middle	brain
2	chr18:44607600-44637600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:44609200-44638400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:44611000-44633000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:44611400-44633000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:44611600-44635600	Weak transcription	Psoas Muscle	Psoas
7	chr18:44612600-44632600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr18:44613800-44638200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr18:44615600-44631000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr18:44617200-44635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:44619400-44630800	Weak transcription	HSMM	muscle
12	chr18:44620600-44635000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:44620800-44675400	Weak transcription	A549	lung
14	chr18:44621000-44630800	Weak transcription	Thymus	Thymus
15	chr18:44621200-44631000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr18:44621200-44634800	Weak transcription	Pancreas	Pancrea
17	chr18:44621400-44638600	Weak transcription	Colonic Mucosa	Colon
18	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
19	chr18:44622000-44633200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:44622400-44632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:44622400-44632400	Weak transcription	Brain Substantia Nigra	brain
22	chr18:44622400-44633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:44623000-44637400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:44623200-44635200	Weak transcription	HepG2	liver
25	chr18:44623800-44635000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr18:44624200-44634800	Weak transcription	Gastric	stomach
27	chr18:44624200-44654200	Weak transcription	Fetal Heart	heart
28	chr18:44624400-44632000	Weak transcription	Fetal Stomach	stomach
29	chr18:44624400-44637400	Weak transcription	HMEC	breast
30	chr18:44624400-44640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:44624600-44635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:44625800-44632000	Weak transcription	Aorta	Aorta
33	chr18:44626600-44664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:44626800-44632000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:44626800-44632600	Weak transcription	NH-A	brain
36	chr18:44626800-44633000	Weak transcription	Placenta	Placenta
37	chr18:44626800-44634600	Weak transcription	NHEK	skin
38	chr18:44626800-44637400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr18:44627000-44630800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr18:44627000-44632600	Weak transcription	Fetal Brain Female	brain
41	chr18:44627000-44633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr18:44627000-44635000	Weak transcription	Brain Germinal Matrix	brain
43	chr18:44627000-44636600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:44627200-44632600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:44627200-44632600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:44627200-44635200	Weak transcription	Fetal Intestine Small	intestine
47	chr18:44627200-44638000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr18:44627600-44630800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr18:44627600-44633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr18:44627800-44630800	Weak transcription	Lung	lung

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