Variant report

Variant	rs12064276
Chromosome Location	chr1:62394822-62394823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10047078	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10889274	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10889275	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10889276	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11207867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207871	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11207873	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11207875	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11485616	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11801545	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11802946	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11804624	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11807297	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11809363	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11811508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069154	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12069359	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12070855	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12074521	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12085283	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12097605	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097637	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239276	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61743112	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076835	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9970060	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9970292	0.90[AFR][1000 genomes];0.83[AMR][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	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62336000-62408600	Weak transcription	Pancreas	Pancrea
2	chr1:62340400-62399200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:62350200-62397600	Weak transcription	Esophagus	oesophagus
5	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:62350800-62395800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:62350800-62397800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:62350800-62417600	Weak transcription	Ovary	ovary
9	chr1:62353600-62396000	Weak transcription	Fetal Kidney	kidney
10	chr1:62353800-62408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:62361600-62408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:62362000-62408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:62372400-62408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:62374600-62410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:62375200-62404600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:62376200-62417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:62377200-62396600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:62380600-62408600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:62380800-62395800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:62380800-62410000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:62381000-62408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:62381000-62416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:62381200-62417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:62381200-62418400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:62381600-62402800	Weak transcription	HepG2	liver
27	chr1:62383400-62408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:62384600-62403000	Weak transcription	Fetal Stomach	stomach
29	chr1:62384600-62408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:62384600-62408800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
32	chr1:62385400-62408400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:62385400-62408600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:62386000-62408600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:62386200-62397000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:62388800-62397400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:62389800-62396000	Weak transcription	NHEK	skin
38	chr1:62391800-62409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:62392000-62408800	Weak transcription	Gastric	stomach
40	chr1:62392600-62408600	Weak transcription	Stomach Mucosa	stomach
41	chr1:62392600-62408800	Weak transcription	Left Ventricle	heart
42	chr1:62393000-62395600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:62393200-62398200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:62393400-62395000	Strong transcription	Liver	Liver
45	chr1:62393600-62395000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:62393600-62396400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:62393800-62402800	Weak transcription	Hela-S3	cervix
48	chr1:62393800-62422400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr1:62394200-62395600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:62394600-62395000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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