Variant report

Variant	rs68169869
Chromosome Location	chr18:13048796-13048797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13044410..13046613-chr18:13047934..13050336,2	MCF-7	breast:
2	chr18:13045915..13049710-chr18:13050964..13055431,5	K562	blood:
3	chr18:13043020..13046495-chr18:13047158..13050914,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11080624	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080626	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080627	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11659468	0.92[EUR][1000 genomes]
rs11660908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661802	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663369	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663399	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663455	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663521	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663778	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11664958	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665378	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11665394	0.92[EUR][1000 genomes]
rs12604624	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606033	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607152	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607203	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607323	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607329	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607661	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12607682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282542	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3786160	0.95[ASN][1000 genomes]
rs3786162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786163	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786164	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809907	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809908	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56913743	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57292913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57448401	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57906042	0.92[EUR][1000 genomes]
rs58158805	0.91[EUR][1000 genomes]
rs58322002	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58343237	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58554306	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58558999	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58820551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59278606	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59557962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59962936	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60015020	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60281669	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60444886	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60669993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60685477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60710487	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60827697	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60945352	0.83[AMR][1000 genomes]
rs60989271	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61364693	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62095829	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66470739	0.92[EUR][1000 genomes]
rs66494849	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6650609	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650616	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6650617	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66559751	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66685204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66688868	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66929859	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66935882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67084247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67258461	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67334724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67357574	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67432911	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67565680	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67675517	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765196	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67838921	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67863818	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67868710	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67955156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68051414	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7228940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233578	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7236172	0.95[EUR][1000 genomes]
rs7236987	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243597	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72636759	0.85[AMR][1000 genomes]
rs72636760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72636761	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084728	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088543	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090759	0.92[EUR][1000 genomes]
rs8091992	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092992	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8093363	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093650	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094351	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952452	1.00[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
2	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
4	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
5	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
7	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
9	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
10	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:13036400-13051400	Strong transcription	Primary B cells from cord blood	blood
12	chr18:13036800-13051400	Weak transcription	Gastric	stomach
13	chr18:13036800-13051800	Weak transcription	NHLF	lung
14	chr18:13036800-13053200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:13038800-13049400	Weak transcription	HMEC	breast
16	chr18:13039800-13050800	Weak transcription	Fetal Intestine Small	intestine
17	chr18:13040200-13051800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:13041000-13050600	Strong transcription	HUVEC	blood vessel
19	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr18:13041800-13058400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:13042000-13049600	Weak transcription	Fetal Stomach	stomach
23	chr18:13043200-13048800	Weak transcription	Fetal Kidney	kidney
24	chr18:13043200-13051400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr18:13043200-13053200	Weak transcription	Brain Germinal Matrix	brain
26	chr18:13043200-13054000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:13043200-13056000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:13043200-13058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:13043200-13058600	Weak transcription	Fetal Heart	heart
30	chr18:13043200-13077800	Strong transcription	Dnd41	blood
31	chr18:13043400-13050800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:13043400-13051800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr18:13045200-13052000	Strong transcription	Primary T cells from cord blood	blood
34	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
35	chr18:13045600-13050200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr18:13045600-13051800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr18:13045600-13051800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:13045600-13053400	Strong transcription	K562	blood
39	chr18:13045600-13062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr18:13045800-13050200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:13045800-13056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:13045800-13057000	Strong transcription	A549	lung
44	chr18:13045800-13062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr18:13046000-13049800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:13046000-13049800	Strong transcription	Brain Anterior Caudate	brain
48	chr18:13046000-13049800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr18:13046000-13050000	Strong transcription	HSMM	muscle
50	chr18:13046000-13050200	Strong transcription	Stomach Smooth Muscle	stomach

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