Variant report

Variant	rs59614628
Chromosome Location	chr6:144632247-144632248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs12660406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12660513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12660531	1.00[EUR][1000 genomes]
rs12660596	1.00[EUR][1000 genomes]
rs12661781	1.00[EUR][1000 genomes]
rs12661969	1.00[EUR][1000 genomes]
rs12662267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12662696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12662724	1.00[EUR][1000 genomes]
rs12662786	1.00[EUR][1000 genomes]
rs12662872	1.00[EUR][1000 genomes]
rs12662904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12662914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12663172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663851	1.00[EUR][1000 genomes]
rs12664200	1.00[EUR][1000 genomes]
rs12664245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12664298	1.00[EUR][1000 genomes]
rs12664304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12665589	1.00[EUR][1000 genomes]
rs12665850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073442	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073463	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073482	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073498	1.00[EUR][1000 genomes]
rs17073506	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073509	1.00[AFR][1000 genomes]
rs17073524	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073528	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073529	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073539	1.00[AFR][1000 genomes]
rs17073544	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17073571	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17073580	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17073598	1.00[EUR][1000 genomes]
rs17073602	1.00[EUR][1000 genomes]
rs17073610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073629	1.00[EUR][1000 genomes]
rs17073631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17840301	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1998367	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34140249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34502493	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34643516	1.00[AFR][1000 genomes]
rs35325795	1.00[EUR][1000 genomes]
rs35681372	1.00[EUR][1000 genomes]
rs36007040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811097	1.00[EUR][1000 genomes]
rs4301321	1.00[EUR][1000 genomes]
rs4896714	1.00[EUR][1000 genomes]
rs4896715	1.00[EUR][1000 genomes]
rs4896717	1.00[EUR][1000 genomes]
rs55684976	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56820385	1.00[EUR][1000 genomes]
rs56897751	1.00[EUR][1000 genomes]
rs57069580	1.00[EUR][1000 genomes]
rs57380483	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57485302	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57592921	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57679521	1.00[EUR][1000 genomes]
rs57704478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57712072	1.00[EUR][1000 genomes]
rs57751197	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58084770	1.00[EUR][1000 genomes]
rs58396690	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58590469	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58646546	0.87[AMR][1000 genomes]
rs58847604	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58849686	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58857193	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58981502	1.00[AFR][1000 genomes]
rs59003501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59612420	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59718967	1.00[EUR][1000 genomes]
rs59803839	1.00[EUR][1000 genomes]
rs59810504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59892317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59936141	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60053855	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60188478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60234245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60345197	1.00[EUR][1000 genomes]
rs60439721	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60484357	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60559108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60634096	1.00[EUR][1000 genomes]
rs60661533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60762289	1.00[EUR][1000 genomes]
rs60811448	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60857439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60859726	1.00[EUR][1000 genomes]
rs61087655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61211447	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61249035	1.00[EUR][1000 genomes]
rs61327932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914753	1.00[EUR][1000 genomes]
rs6915621	1.00[EUR][1000 genomes]
rs6917261	1.00[EUR][1000 genomes]
rs6922109	1.00[EUR][1000 genomes]
rs6922608	1.00[EUR][1000 genomes]
rs6927798	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73589002	1.00[EUR][1000 genomes]
rs73591113	1.00[EUR][1000 genomes]
rs73594934	1.00[EUR][1000 genomes]
rs73780508	1.00[EUR][1000 genomes]
rs73780540	1.00[EUR][1000 genomes]
rs7741466	1.00[EUR][1000 genomes]
rs7745240	1.00[EUR][1000 genomes]
rs7747486	1.00[EUR][1000 genomes]
rs7751351	1.00[EUR][1000 genomes]
rs7751876	1.00[EUR][1000 genomes]
rs7754883	1.00[EUR][1000 genomes]
rs7766883	1.00[EUR][1000 genomes]
rs7768531	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7774175	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9484874	1.00[EUR][1000 genomes]
rs9496932	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9496935	1.00[EUR][1000 genomes]
rs9496938	1.00[EUR][1000 genomes]
rs9496944	1.00[EUR][1000 genomes]
rs9496955	1.00[EUR][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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3324488	chr6:144630309-144633007	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:144616400-144648000	Weak transcription	NHEK	skin
3	chr6:144617200-144636400	Weak transcription	A549	lung
4	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:144619800-144634600	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:144622400-144637000	Genic enhancers	HepG2	liver
8	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:144624400-144648000	Weak transcription	HMEC	breast
11	chr6:144625800-144632600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:144627000-144634600	Weak transcription	Small Intestine	intestine
13	chr6:144627400-144634600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
15	chr6:144627600-144634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:144627600-144634200	Weak transcription	Right Atrium	heart
17	chr6:144627600-144634600	Weak transcription	Aorta	Aorta
18	chr6:144627600-144634600	Weak transcription	Esophagus	oesophagus
19	chr6:144627600-144634600	Weak transcription	Spleen	Spleen
20	chr6:144627600-144636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:144627600-144643400	Weak transcription	NH-A	brain
22	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:144627800-144634600	Weak transcription	Fetal Thymus	thymus
24	chr6:144629000-144632800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:144629000-144633000	Strong transcription	HSMM	muscle
26	chr6:144629200-144634400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:144629200-144634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:144629200-144635200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:144629400-144632600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:144629400-144632600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:144629400-144633000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:144629400-144641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:144629600-144632400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:144630000-144632400	Weak transcription	Primary B cells from cord blood	blood
35	chr6:144630200-144648400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:144630400-144634000	Weak transcription	Right Ventricle	heart
37	chr6:144630400-144634600	Weak transcription	Gastric	stomach
38	chr6:144630600-144632600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:144630600-144634200	Weak transcription	NHDF-Ad	bronchial
40	chr6:144630600-144648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:144630800-144634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:144630800-144634600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:144630800-144634600	Weak transcription	Placenta	Placenta
44	chr6:144630800-144634800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:144631000-144632600	Weak transcription	Dnd41	blood
46	chr6:144631000-144632600	Weak transcription	Hela-S3	cervix
47	chr6:144631000-144632800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:144631000-144633600	Weak transcription	Liver	Liver
49	chr6:144631000-144634200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:144631000-144634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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