Variant report

Variant	rs12528385
Chromosome Location	chr6:71158285-71158286
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10214805	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10455706	0.82[EUR][1000 genomes]
rs1075263	0.84[EUR][1000 genomes]
rs10945230	0.91[EUR][1000 genomes]
rs10945231	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10945235	0.81[EUR][1000 genomes]
rs11965656	0.96[EUR][1000 genomes]
rs1208480	0.86[EUR][1000 genomes]
rs12180997	0.80[EUR][1000 genomes]
rs12191321	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12197942	0.91[EUR][1000 genomes]
rs12197963	0.91[EUR][1000 genomes]
rs12200777	0.87[EUR][1000 genomes]
rs12201029	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12203089	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12203298	0.91[EUR][1000 genomes]
rs12209965	0.91[EUR][1000 genomes]
rs12216376	0.91[EUR][1000 genomes]
rs12524814	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12525538	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12525777	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526164	0.94[EUR][1000 genomes]
rs12526787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526827	0.96[EUR][1000 genomes]
rs12526961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12527634	0.95[EUR][1000 genomes]
rs12528391	0.85[EUR][1000 genomes]
rs12528866	0.96[EUR][1000 genomes]
rs12529284	0.92[EUR][1000 genomes]
rs12529309	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12529984	0.85[EUR][1000 genomes]
rs12530057	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12530358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869170	0.84[EUR][1000 genomes]
rs16869267	0.96[EUR][1000 genomes]
rs16869340	0.84[EUR][1000 genomes]
rs16869353	0.92[EUR][1000 genomes]
rs16869370	0.83[EUR][1000 genomes]
rs16869371	0.92[EUR][1000 genomes]
rs16869373	0.92[EUR][1000 genomes]
rs1739338	0.88[EUR][1000 genomes]
rs17634272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17634491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17635446	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17635510	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17706748	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17706833	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17713105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713212	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713547	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2207423	0.94[EUR][1000 genomes]
rs2207425	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2273210	0.96[EUR][1000 genomes]
rs2293297	0.92[EUR][1000 genomes]
rs2295200	0.95[EUR][1000 genomes]
rs2346889	0.84[EUR][1000 genomes]
rs2346890	0.95[EUR][1000 genomes]
rs2639291	0.88[EUR][1000 genomes]
rs2639297	0.86[EUR][1000 genomes]
rs2747702	0.81[EUR][1000 genomes]
rs2842063	0.85[EUR][1000 genomes]
rs3193656	0.92[EUR][1000 genomes]
rs34246525	0.87[EUR][1000 genomes]
rs35159719	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3846750	0.89[EUR][1000 genomes]
rs3889007	0.89[EUR][1000 genomes]
rs41265349	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4283855	0.85[EUR][1000 genomes]
rs4496758	0.85[EUR][1000 genomes]
rs45460797	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55639214	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55761717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968813	0.94[EUR][1000 genomes]
rs55990553	0.91[EUR][1000 genomes]
rs55990831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074506	0.92[EUR][1000 genomes]
rs56114703	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56143128	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56179165	0.92[EUR][1000 genomes]
rs56322111	0.92[EUR][1000 genomes]
rs56397968	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58144467	0.84[EUR][1000 genomes]
rs58370765	0.83[EUR][1000 genomes]
rs58637377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59275635	0.95[EUR][1000 genomes]
rs59698166	0.93[EUR][1000 genomes]
rs61223738	0.85[EUR][1000 genomes]
rs6455370	0.84[EUR][1000 genomes]
rs6900840	0.88[EUR][1000 genomes]
rs6901904	0.96[EUR][1000 genomes]
rs6906592	0.88[EUR][1000 genomes]
rs6911812	0.88[EUR][1000 genomes]
rs6911983	0.92[EUR][1000 genomes]
rs6913548	0.95[EUR][1000 genomes]
rs6916974	0.92[EUR][1000 genomes]
rs6918393	0.88[EUR][1000 genomes]
rs6919794	0.86[EUR][1000 genomes]
rs6932470	0.85[EUR][1000 genomes]
rs6933150	0.95[EUR][1000 genomes]
rs6933337	0.85[EUR][1000 genomes]
rs6940416	0.83[EUR][1000 genomes]
rs6941595	0.92[EUR][1000 genomes]
rs6942012	0.84[EUR][1000 genomes]
rs73474927	0.85[EUR][1000 genomes]
rs73474934	0.85[EUR][1000 genomes]
rs73474937	0.84[EUR][1000 genomes]
rs73474966	0.85[EUR][1000 genomes]
rs73474998	0.96[EUR][1000 genomes]
rs73478819	0.96[EUR][1000 genomes]
rs73480275	0.91[EUR][1000 genomes]
rs73480280	0.91[EUR][1000 genomes]
rs73482554	0.96[EUR][1000 genomes]
rs73482557	0.96[EUR][1000 genomes]
rs73482585	0.96[EUR][1000 genomes]
rs73489091	0.81[EUR][1000 genomes]
rs7450771	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7739517	0.84[EUR][1000 genomes]
rs7740873	0.87[EUR][1000 genomes]
rs7741265	0.84[EUR][1000 genomes]
rs7742044	0.81[EUR][1000 genomes]
rs7752409	0.88[EUR][1000 genomes]
rs7753355	0.86[EUR][1000 genomes]
rs7756774	0.92[EUR][1000 genomes]
rs7757026	0.91[EUR][1000 genomes]
rs7759464	0.89[EUR][1000 genomes]
rs7766075	0.89[EUR][1000 genomes]
rs7769582	0.86[EUR][1000 genomes]
rs7773794	0.84[EUR][1000 genomes]
rs7775962	0.88[EUR][1000 genomes]
rs9283835	0.85[EUR][1000 genomes]
rs9294868	0.89[EUR][1000 genomes]
rs9294871	0.92[EUR][1000 genomes]
rs9294872	0.96[EUR][1000 genomes]
rs9294874	0.88[EUR][1000 genomes]
rs9294876	0.84[EUR][1000 genomes]
rs9446245	0.88[EUR][1000 genomes]
rs9446246	0.81[EUR][1000 genomes]
rs9446248	0.89[EUR][1000 genomes]
rs9446252	0.86[EUR][1000 genomes]
rs9446258	0.85[EUR][1000 genomes]
rs9446267	0.84[EUR][1000 genomes]
rs9455093	0.82[EUR][1000 genomes]
rs9455094	0.89[EUR][1000 genomes]
rs9455097	0.89[EUR][1000 genomes]
rs9455101	0.89[EUR][1000 genomes]
rs9455104	0.85[EUR][1000 genomes]
rs9455105	0.83[EUR][1000 genomes]
rs9455113	0.96[EUR][1000 genomes]
rs9455114	0.94[EUR][1000 genomes]
rs9455121	0.96[EUR][1000 genomes]
rs9455130	0.88[EUR][1000 genomes]
rs9455132	0.85[EUR][1000 genomes]
rs9455139	0.92[EUR][1000 genomes]
rs9455140	0.92[EUR][1000 genomes]
rs9455144	0.85[EUR][1000 genomes]
rs9455150	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9455151	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9455158	0.84[EUR][1000 genomes]
rs9455160	0.84[EUR][1000 genomes]
rs9455161	0.92[EUR][1000 genomes]
rs9455162	0.91[EUR][1000 genomes]
rs9455163	0.91[EUR][1000 genomes]
rs9455181	0.81[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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:71125400-71188800	Weak transcription	HSMM	muscle
7	chr6:71125600-71162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:71130200-71183200	Weak transcription	Brain Angular Gyrus	brain
9	chr6:71130200-71185400	Weak transcription	K562	blood
10	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:71134200-71161400	Weak transcription	Small Intestine	intestine
12	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:71139400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:71141000-71159200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:71141200-71159600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:71141400-71160000	Weak transcription	Gastric	stomach
17	chr6:71141400-71183400	Weak transcription	Right Ventricle	heart
18	chr6:71141400-71186800	Weak transcription	Fetal Brain Female	brain
19	chr6:71148800-71183200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:71149000-71183000	Weak transcription	Fetal Kidney	kidney
21	chr6:71149000-71185600	Weak transcription	Aorta	Aorta
22	chr6:71153200-71183200	Weak transcription	HepG2	liver
23	chr6:71154600-71188800	Weak transcription	Fetal Heart	heart
24	chr6:71155000-71166400	Weak transcription	Stomach Mucosa	stomach
25	chr6:71155000-71185400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:71155200-71162200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:71155400-71184000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:71156200-71159200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:71156400-71158400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr6:71156400-71159600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:71157000-71158800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr6:71157000-71158800	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr6:71157200-71158400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr6:71157200-71158400	ZNF genes & repeats	Fetal Stomach	stomach
35	chr6:71157400-71160200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:71157400-71164000	Weak transcription	HUVEC	blood vessel
37	chr6:71157600-71158400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr6:71157600-71158400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr6:71157600-71158400	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr6:71157600-71158400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr6:71157600-71158600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr6:71157600-71158600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr6:71157600-71158800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:71157600-71158800	ZNF genes & repeats	Placenta	Placenta
45	chr6:71157600-71159200	Strong transcription	Primary B cells from cord blood	blood
46	chr6:71157600-71159200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr6:71157600-71159800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:71157600-71159800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:71157600-71160400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr6:71157800-71158400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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