Variant report

Variant	rs67838921
Chromosome Location	chr18:13075998-13075999
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11080624	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11080626	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11080627	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11080628	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11660634	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11660908	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11661163	0.92[EUR][1000 genomes]
rs11661802	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11662528	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11663369	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11663399	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11663455	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11663521	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11663778	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664958	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11665378	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12604624	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12606033	0.83[ASN][1000 genomes]
rs12607152	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12607203	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12607323	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12607329	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12607661	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12607682	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282542	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3602	0.89[EUR][1000 genomes]
rs3786160	0.82[ASN][1000 genomes]
rs3786162	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3786163	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3786164	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3809907	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3809908	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56913743	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57292913	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57448401	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58322002	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58343237	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58554306	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58558999	0.83[ASN][1000 genomes]
rs58820551	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59278606	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59557962	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59962936	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60015020	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60281669	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60444886	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60669993	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60685477	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60710487	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60827697	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60989271	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61364693	0.81[ASN][1000 genomes]
rs62095829	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66466160	0.90[EUR][1000 genomes]
rs66494849	0.82[ASN][1000 genomes]
rs6650609	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6650616	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6650617	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66559751	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66661616	0.81[EUR][1000 genomes]
rs66685204	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66688868	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs66929859	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66935882	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67068160	0.89[EUR][1000 genomes]
rs67084247	0.83[AMR][1000 genomes]
rs67258461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67334724	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67357574	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67415465	0.89[EUR][1000 genomes]
rs67432911	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67538562	0.89[EUR][1000 genomes]
rs67565680	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67640584	0.89[EUR][1000 genomes]
rs67675517	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67765196	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67863818	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67868710	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67955156	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67996007	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68051414	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68169869	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7228940	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7233578	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7236987	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7243276	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7243536	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243597	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72636758	0.85[EUR][1000 genomes]
rs72636759	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72636760	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72636761	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8084728	0.83[ASN][1000 genomes]
rs8088543	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8091992	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8092992	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8093363	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8093650	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8094351	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9952452	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13043200-13077800	Strong transcription	Dnd41	blood
3	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:13052200-13078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:13054400-13077400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:13056600-13083800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:13056600-13095600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr18:13064800-13077400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:13064800-13077800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:13064800-13078000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:13065200-13076000	Strong transcription	Fetal Intestine Large	intestine
13	chr18:13065200-13076200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr18:13065200-13078400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr18:13065400-13076200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:13065400-13078200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr18:13065600-13076000	Strong transcription	K562	blood
18	chr18:13065600-13079200	Strong transcription	Fetal Thymus	thymus
19	chr18:13065800-13076000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr18:13065800-13078400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr18:13066400-13076400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:13066400-13076400	Strong transcription	Fetal Muscle Leg	muscle
23	chr18:13066400-13078200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:13066400-13078200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:13066600-13076000	Strong transcription	Adipose Nuclei	Adipose
26	chr18:13066600-13076200	Strong transcription	NH-A	brain
27	chr18:13066600-13076400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:13066600-13076400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:13066600-13077600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr18:13066600-13077800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr18:13066600-13078200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:13066600-13078800	Strong transcription	Thymus	Thymus
33	chr18:13066800-13076000	Strong transcription	HSMM	muscle
34	chr18:13066800-13077200	Strong transcription	Liver	Liver
35	chr18:13066800-13079000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:13067000-13076000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:13067000-13077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr18:13067000-13078000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr18:13067000-13079000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:13067000-13094600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr18:13067200-13076400	Strong transcription	Hela-S3	cervix
42	chr18:13067200-13078200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr18:13067400-13076000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr18:13067400-13076000	Strong transcription	Fetal Lung	lung
45	chr18:13067400-13076000	Strong transcription	GM12878-XiMat	blood
46	chr18:13067400-13078400	Strong transcription	Primary T cells from cord blood	blood
47	chr18:13067800-13076000	Strong transcription	Placenta	Placenta
48	chr18:13067800-13076000	Strong transcription	Osteobl	bone
49	chr18:13067800-13076200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:13067800-13076200	Strong transcription	Primary B cells from peripheral blood	blood

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