Variant report

Variant	rs72907143
Chromosome Location	chr18:44413968-44413969
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	chr18:44412054..44414419-chr18:44417196..44419147,2	K562	blood:
2	chr18:44409358..44411330-chr18:44412581..44415126,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11872472	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11874267	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874582	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875703	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875918	0.82[AFR][1000 genomes]
rs11876274	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877331	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877668	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11877721	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878114	0.94[AFR][1000 genomes]
rs17472	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962181	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35539161	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4084161	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4341835	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4341836	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4640275	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55664322	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693830	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55710513	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756567	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55779584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781503	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064494	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56095591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123148	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56164202	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56188847	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217029	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250012	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56279708	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56303451	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56352844	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738602	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61746775	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507707	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7230266	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7234512	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240457	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7240843	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241877	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7242313	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242451	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7242768	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7243015	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905224	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72905246	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72905276	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72907105	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907132	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907199	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	0.94[AFR][1000 genomes]
rs72909190	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911106	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913060	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72915093	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917159	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919280	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72919285	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919292	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7506367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088346	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099378	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv909608	chr18:44335724-44422661	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44386800-44417000	Weak transcription	Brain Angular Gyrus	brain
4	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
5	chr18:44391200-44414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
7	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
9	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
10	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
11	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
13	chr18:44398600-44422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
15	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
17	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
18	chr18:44399800-44417000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
20	chr18:44401200-44418200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
22	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
23	chr18:44401400-44437600	Weak transcription	HMEC	breast
24	chr18:44402000-44440800	Weak transcription	A549	lung
25	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:44404800-44424400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr18:44406000-44424200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr18:44406400-44422600	Weak transcription	Placenta	Placenta
31	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:44407000-44416800	Strong transcription	Dnd41	blood
33	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:44407600-44431400	Weak transcription	Brain Anterior Caudate	brain
35	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr18:44408000-44431200	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:44408000-44433800	Weak transcription	NH-A	brain
38	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:44408200-44414600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
41	chr18:44408400-44414600	Weak transcription	HUVEC	blood vessel
42	chr18:44408400-44422600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:44408400-44425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
45	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:44408400-44433800	Weak transcription	Osteobl	bone
48	chr18:44408600-44414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:44408600-44416200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:44408600-44422600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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