Variant report

Variant	rs73305008
Chromosome Location	chr12:49958911-49958912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49958728-49959066	K562	blood:	n/a	n/a
2	POLR2A	chr12:49956557-49958991	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:49957954-49960054	K562	blood:	n/a	n/a
4	POLR2A	chr12:49958723-49958938	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49957663..49959625-chr12:49960090..49962093,2	MCF-7	breast:
3	chr12:49687485..49689033-chr12:49958204..49960498,2	K562	blood:
4	chr12:49957600..49959598-chr12:49973048..49974931,2	MCF-7	breast:
5	chr12:49715809..49718434-chr12:49958773..49962472,3	K562	blood:

No data

Variant related genes	Relation type
MCRS1	TF binding region
PRPF40B	TF binding region
ENSG00000135451	Chromatin interaction
ENSG00000258334	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000110844	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1049986	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875964	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875968	0.81[ASN][1000 genomes]
rs11169063	0.86[ASN][1000 genomes]
rs11169065	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169070	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169076	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169080	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169081	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169082	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169092	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169097	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169104	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169106	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169109	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169111	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169112	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169113	0.82[EUR][1000 genomes]
rs11169118	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169125	0.82[EUR][1000 genomes]
rs11169127	0.83[EUR][1000 genomes]
rs11169133	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11833411	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11834380	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12296586	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12299505	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12299513	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12301824	0.82[EUR][1000 genomes]
rs12303310	0.83[ASN][1000 genomes]
rs12304796	0.83[EUR][1000 genomes]
rs12308256	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12309940	0.84[EUR][1000 genomes]
rs12310510	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12311527	0.94[ASN][1000 genomes]
rs12311839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314795	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12314878	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315224	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315791	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12316284	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12317646	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12320556	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321169	0.83[EUR][1000 genomes]
rs12321819	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13906	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470906	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1574326	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17123808	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902329	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1902330	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005195	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241418	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278068	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278069	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278070	0.97[ASN][1000 genomes]
rs2303305	0.97[ASN][1000 genomes]
rs2336058	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2878532	0.84[ASN][1000 genomes]
rs3815832	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887727	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3887728	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4045193	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073998	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4133070	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4563	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4584654	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs52824916	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55853522	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57191490	0.80[ASN][1000 genomes]
rs57342147	0.83[ASN][1000 genomes]
rs57463238	0.82[EUR][1000 genomes]
rs57916875	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58278271	0.91[ASN][1000 genomes]
rs58446833	0.83[EUR][1000 genomes]
rs59233136	0.81[ASN][1000 genomes]
rs59849800	0.83[EUR][1000 genomes]
rs59940006	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60121503	0.80[ASN][1000 genomes]
rs60402517	0.84[EUR][1000 genomes]
rs61512987	0.84[ASN][1000 genomes]
rs61620972	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61710637	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580719	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7131915	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132792	0.94[ASN][1000 genomes]
rs7136052	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137976	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296281	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299002	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7301209	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309607	0.81[ASN][1000 genomes]
rs7312658	0.81[ASN][1000 genomes]
rs7313738	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305012	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305085	0.81[ASN][1000 genomes]
rs73305098	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73306808	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309030	0.83[EUR][1000 genomes]
rs74089182	0.80[ASN][1000 genomes]
rs7688	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952734	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954994	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955586	0.81[ASN][1000 genomes]
rs7956089	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7956181	0.83[ASN][1000 genomes]
rs7962645	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7965658	0.97[ASN][1000 genomes]
rs7967624	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7970241	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975599	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977389	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979262	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979285	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7980979	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8626	0.84[ASN][1000 genomes]
rs876889	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897056	0.81[ASN][1000 genomes]
rs933738	0.94[ASN][1000 genomes]
rs9804749	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9804971	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr12:49943200-49959600	Weak transcription	Right Atrium	heart
2	chr12:49946000-49960200	Weak transcription	Fetal Brain Male	brain
3	chr12:49948200-49960400	Strong transcription	Fetal Brain Female	brain
4	chr12:49948200-49960400	Strong transcription	Fetal Intestine Small	intestine
5	chr12:49949200-49960400	Strong transcription	Fetal Stomach	stomach
6	chr12:49949400-49959000	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr12:49949400-49959200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:49949400-49959200	Strong transcription	Gastric	stomach
9	chr12:49949400-49959400	Strong transcription	Brain Germinal Matrix	brain
10	chr12:49949400-49959800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49949400-49959800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:49949400-49960000	Strong transcription	Thymus	Thymus
13	chr12:49949400-49960200	Strong transcription	NHLF	lung
14	chr12:49949600-49959200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:49949600-49959600	Strong transcription	Placenta	Placenta
16	chr12:49949600-49959600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:49949600-49959800	Strong transcription	Brain Hippocampus Middle	brain
18	chr12:49949600-49960000	Strong transcription	Fetal Intestine Large	intestine
19	chr12:49949600-49960400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:49949600-49960400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:49949800-49959000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:49949800-49959400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:49949800-49959600	Strong transcription	Fetal Lung	lung
24	chr12:49949800-49959600	Strong transcription	Pancreas	Pancrea
25	chr12:49949800-49959600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:49949800-49959600	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:49949800-49959600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr12:49949800-49959800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:49949800-49959800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:49949800-49959800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:49949800-49959800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:49949800-49959800	Strong transcription	Adipose Nuclei	Adipose
33	chr12:49949800-49959800	Strong transcription	Lung	lung
34	chr12:49949800-49960000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:49949800-49960000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:49949800-49960200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:49949800-49960200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:49949800-49960400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr12:49949800-49960400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:49950000-49959000	Strong transcription	Brain Substantia Nigra	brain
41	chr12:49950000-49959200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr12:49950000-49959200	Strong transcription	A549	lung
43	chr12:49950000-49959400	Strong transcription	Ovary	ovary
44	chr12:49950000-49959800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:49950000-49960000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:49950200-49959200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:49950200-49959600	Strong transcription	Colon Smooth Muscle	Colon
48	chr12:49950200-49960200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:49950400-49959000	Strong transcription	Spleen	Spleen
50	chr12:49950400-49959600	Strong transcription	GM12878-XiMat	blood

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