Variant report

Variant	rs72907199
Chromosome Location	chr18:44435047-44435048
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	chr18:44431304..44434068-chr18:44434651..44437346,2	K562	blood:

Variant related genes	Relation type
ENSG00000267587	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11872472	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11874267	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874582	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875703	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877331	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877668	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11877721	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962181	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35539161	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4084161	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341835	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341836	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4640275	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55664322	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693830	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55710513	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55779584	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781503	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064494	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56095591	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123148	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56164202	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56188847	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217029	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250012	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56279708	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56303451	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56352844	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738602	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61746775	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507707	0.89[EUR][1000 genomes]
rs7230266	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7234512	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240457	0.86[EUR][1000 genomes]
rs7240843	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241877	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242313	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242451	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242768	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7243015	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905224	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905246	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905276	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907105	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907132	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907142	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909190	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913060	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72915093	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917159	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919280	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72919285	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919292	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7506367	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088346	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089367	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099378	0.84[AMR][1000 genomes];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:118 , 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	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
6	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
8	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
9	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
10	chr18:44401400-44437600	Weak transcription	HMEC	breast
11	chr18:44402000-44440800	Weak transcription	A549	lung
12	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
19	chr18:44408600-44436800	Weak transcription	NHLF	lung
20	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:44408800-44448200	Weak transcription	Lung	lung
22	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:44409800-44436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:44410000-44437200	Weak transcription	Fetal Heart	heart
26	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr18:44415400-44437600	Weak transcription	HUVEC	blood vessel
28	chr18:44415600-44448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:44420200-44445600	Weak transcription	K562	blood
30	chr18:44422800-44437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:44423000-44437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:44423400-44446400	Weak transcription	HSMM	muscle
33	chr18:44424000-44436600	Weak transcription	GM12878-XiMat	blood
34	chr18:44424800-44439600	Weak transcription	NHEK	skin
35	chr18:44425000-44446000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:44425400-44436600	Weak transcription	HSMMtube	muscle
37	chr18:44425600-44436600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:44430200-44435400	Strong transcription	Primary B cells from cord blood	blood
39	chr18:44430200-44435600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:44430200-44435800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:44430400-44437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:44430600-44435400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr18:44430600-44435600	Strong transcription	Primary T cells from cord blood	blood
44	chr18:44431000-44436200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:44431200-44435200	Strong transcription	Adipose Nuclei	Adipose
46	chr18:44431200-44437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:44431400-44435400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:44431600-44439400	Strong transcription	Dnd41	blood
49	chr18:44431800-44435600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:44432000-44437200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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