Variant report

Variant	rs72907142
Chromosome Location	chr18:44409581-44409582
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44409358..44411330-chr18:44412581..44415126,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

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	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]
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]
rs17472	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56095591	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	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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	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]
rs7229231	0.97[AFR][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[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	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]
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[AFR][1000 genomes];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:118 , 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	chr18:44383600-44412000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:44386800-44417000	Weak transcription	Brain Angular Gyrus	brain
5	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
6	chr18:44391200-44414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
8	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
10	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
11	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
12	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:44396600-44410000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
15	chr18:44397400-44413600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:44397800-44410600	Weak transcription	NHEK	skin
17	chr18:44398600-44422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
19	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
21	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
22	chr18:44399800-44417000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
24	chr18:44401200-44418200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
26	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
27	chr18:44401400-44437600	Weak transcription	HMEC	breast
28	chr18:44402000-44440800	Weak transcription	A549	lung
29	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:44404600-44410000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:44404800-44424400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:44405000-44409800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:44405200-44409600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:44405200-44410000	Strong transcription	Primary T cells from cord blood	blood
35	chr18:44405200-44410000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr18:44405400-44409800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:44405400-44409800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:44405400-44410000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:44405400-44410000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:44405400-44410000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:44405400-44410000	Strong transcription	HSMM	muscle
42	chr18:44405400-44410200	Strong transcription	HepG2	liver
43	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr18:44405600-44409600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:44405600-44409800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:44405600-44409800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:44406000-44409800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:44406000-44410000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:44406000-44410200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr18:44406000-44424200	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links