Variant report

Variant	rs7967624
Chromosome Location	chr12:50159519-50159520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50156443..50162111-chr12:50232191..50236705,6	K562	blood:
2	chr12:50145939..50150220-chr12:50153962..50160201,9	K562	blood:
3	chr12:50135671..50138899-chr12:50159080..50162022,3	K562	blood:
4	chr12:50135904..50138542-chr12:50158281..50161269,2	MCF-7	breast:
5	chr12:50134643..50139812-chr12:50155423..50161657,9	MCF-7	breast:
6	chr12:50040835..50042733-chr12:50157264..50159608,2	K562	blood:
7	chr12:50159154..50162859-chr12:50163370..50168392,4	MCF-7	breast:
8	chr12:50158953..50161238-chr12:50226769..50228589,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000257730	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1049986	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875964	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875968	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169069	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169070	0.80[EUR][1000 genomes]
rs11169073	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169076	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169081	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169082	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169092	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169097	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169101	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169104	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169106	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169109	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169111	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169112	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169113	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169118	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169125	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11169127	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169133	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169140	0.85[AMR][1000 genomes]
rs11615488	0.89[ASN][1000 genomes]
rs11833411	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11834380	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12296586	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299505	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12299513	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12301824	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12303310	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12304796	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12305460	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12308256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309940	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12310510	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311839	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12314795	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12314878	0.81[ASN][1000 genomes]
rs12315224	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12315791	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12316284	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317646	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320556	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12321169	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321819	0.81[ASN][1000 genomes]
rs12321910	0.80[ASN][1000 genomes]
rs13066	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13906	0.81[ASN][1000 genomes]
rs1470906	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1574326	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17123808	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17123981	0.81[AMR][1000 genomes]
rs2005195	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2241418	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278068	0.81[ASN][1000 genomes]
rs2278069	0.81[ASN][1000 genomes]
rs2336058	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2878532	0.81[AMR][1000 genomes]
rs3815832	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3887728	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4045193	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4133070	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4563	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4584654	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55853522	0.81[ASN][1000 genomes]
rs56784440	0.80[ASN][1000 genomes]
rs57191490	0.94[ASN][1000 genomes]
rs57342147	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57463238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58278271	0.83[ASN][1000 genomes]
rs58446833	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59233136	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59849800	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59940006	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60121503	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60402517	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61616163	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61620972	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61710637	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580719	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131915	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7136052	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137976	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296281	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7299002	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301209	0.81[ASN][1000 genomes]
rs7306877	0.80[ASN][1000 genomes]
rs7309607	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7312658	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7313738	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305008	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73305012	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73305085	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73305098	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73306808	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73309030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74089182	0.94[ASN][1000 genomes]
rs7688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952734	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953911	0.81[ASN][1000 genomes]
rs7954994	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7955586	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7956089	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956181	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962645	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962863	0.87[ASN][1000 genomes]
rs7963954	0.87[ASN][1000 genomes]
rs7970241	0.81[ASN][1000 genomes]
rs7973389	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975599	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977389	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7979262	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980979	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs876889	0.83[EUR][1000 genomes]
rs897056	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9804749	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9804971	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:50146400-50159600	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr12:50146400-50159800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:50146600-50160000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:50146600-50160800	Strong transcription	Fetal Muscle Leg	muscle
5	chr12:50146600-50160800	Strong transcription	Fetal Stomach	stomach
6	chr12:50147200-50160200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr12:50147200-50161000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:50147600-50160000	Strong transcription	Fetal Intestine Small	intestine
9	chr12:50148200-50160000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:50148200-50160200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:50148200-50160200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:50148200-50160200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:50148200-50170000	Weak transcription	Right Atrium	heart
14	chr12:50148400-50159600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:50148400-50160400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:50148800-50160200	Strong transcription	Colon Smooth Muscle	Colon
17	chr12:50149000-50159800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:50154200-50160000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:50155000-50160400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:50156000-50160400	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr12:50156800-50160000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:50157400-50160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:50158000-50160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:50158000-50160200	Strong transcription	Adipose Nuclei	Adipose
25	chr12:50158200-50159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:50158200-50160600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:50158200-50160600	Weak transcription	Small Intestine	intestine
28	chr12:50158200-50161200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:50158200-50162600	Weak transcription	Fetal Heart	heart
30	chr12:50158200-50170200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:50158400-50159800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:50158400-50159800	Weak transcription	HepG2	liver
33	chr12:50158400-50160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:50158400-50160000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:50158400-50160200	Weak transcription	Fetal Lung	lung
36	chr12:50158400-50160600	Weak transcription	Ovary	ovary
37	chr12:50158400-50161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:50158400-50161200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:50158400-50161600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:50158400-50161600	Weak transcription	HUVEC	blood vessel
41	chr12:50158400-50161800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:50158400-50161800	Weak transcription	Psoas Muscle	Psoas
43	chr12:50158400-50161800	Weak transcription	Stomach Mucosa	stomach
44	chr12:50158400-50162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:50158400-50163400	Weak transcription	Spleen	Spleen
46	chr12:50158400-50170000	Weak transcription	Esophagus	oesophagus
47	chr12:50158400-50170200	Weak transcription	A549	lung
48	chr12:50158400-50170200	Weak transcription	K562	blood
49	chr12:50158800-50163800	Weak transcription	GM12878-XiMat	blood
50	chr12:50158800-50170200	Weak transcription	Primary B cells from peripheral blood	blood

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