Variant report

Variant	rs56188847
Chromosome Location	chr18:44433100-44433101
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	chr18:44431175..44433784-chr18:44497358..44499614,2	K562	blood:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167216	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs11872472	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11874267	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874582	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875703	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875918	0.82[AFR][1000 genomes]
rs11876274	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877331	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877668	0.89[EUR][1000 genomes]
rs11877721	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878114	0.94[AFR][1000 genomes]
rs17472	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962181	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35539161	0.90[EUR][1000 genomes]
rs4084161	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341835	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341836	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4640275	0.92[EUR][1000 genomes]
rs55664322	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693830	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55710513	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756567	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55779584	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781503	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064494	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56095591	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123148	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56164202	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56217029	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250012	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56279708	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56303451	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56352844	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738602	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61746775	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507707	0.89[EUR][1000 genomes]
rs7230266	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7234512	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240457	0.86[EUR][1000 genomes]
rs7240843	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241877	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242313	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242451	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242768	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7243015	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905224	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905246	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905276	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907105	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907132	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907142	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	0.94[AFR][1000 genomes]
rs72909190	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911106	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913060	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72915093	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917159	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919280	0.89[EUR][1000 genomes]
rs72919285	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919292	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7506367	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088346	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089367	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099378	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv999328	chr18:44431002-44438662	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	7 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	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
2	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
3	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
4	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
5	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
6	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
8	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
9	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
11	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
12	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
13	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
14	chr18:44401400-44437600	Weak transcription	HMEC	breast
15	chr18:44402000-44440800	Weak transcription	A549	lung
16	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:44408000-44433800	Weak transcription	NH-A	brain
23	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
24	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
25	chr18:44408400-44433800	Weak transcription	Osteobl	bone
26	chr18:44408600-44436800	Weak transcription	NHLF	lung
27	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:44408800-44448200	Weak transcription	Lung	lung
30	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:44409800-44433800	Weak transcription	Left Ventricle	heart
36	chr18:44409800-44436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr18:44410000-44433800	Weak transcription	Fetal Lung	lung
38	chr18:44410000-44433800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr18:44410000-44433800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr18:44410000-44434800	Weak transcription	NHDF-Ad	bronchial
41	chr18:44410000-44437200	Weak transcription	Fetal Heart	heart
42	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:44414800-44433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr18:44415400-44433800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr18:44415400-44437600	Weak transcription	HUVEC	blood vessel
46	chr18:44415600-44448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:44416600-44434800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:44416800-44433800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:44416800-44433800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr18:44420200-44445600	Weak transcription	K562	blood

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