Variant report

Variant	rs12033976
Chromosome Location	chr1:175909643-175909644
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10218714	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10436856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10494498	0.80[CEU][hapmap]
rs10753112	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10753118	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10798422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798428	0.89[YRI][hapmap]
rs10798434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10798444	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10913112	0.85[EUR][1000 genomes]
rs10913116	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913118	0.91[JPT][hapmap]
rs10913120	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913124	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913131	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10913132	0.82[AMR][1000 genomes]
rs10913135	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs10913137	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs11810706	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12029090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12030638	0.80[CEU][hapmap]
rs12033847	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes]
rs12066926	0.81[AFR][1000 genomes]
rs12138008	0.81[JPT][hapmap]
rs12404596	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes]
rs12723724	0.91[JPT][hapmap]
rs12729524	0.81[JPT][hapmap]
rs12735810	0.82[AMR][1000 genomes]
rs16849486	0.91[JPT][hapmap]
rs17351562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354120	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs2481628	0.86[JPT][hapmap]
rs2481630	0.86[JPT][hapmap]
rs2481631	0.86[JPT][hapmap]
rs2481633	0.87[JPT][hapmap]
rs2481655	0.82[JPT][hapmap]
rs2502823	0.82[JPT][hapmap]
rs2502831	0.86[JPT][hapmap]
rs2502834	0.88[YRI][hapmap]
rs2502835	0.89[YRI][hapmap]
rs2502845	0.90[JPT][hapmap]
rs4409605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678628	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6678812	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6680839	0.94[ASN][1000 genomes]
rs6687043	0.81[YRI][hapmap]
rs6688211	0.80[YRI][hapmap]
rs6688898	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6693299	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6703511	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7515914	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7517503	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs7527463	0.81[AFR][1000 genomes]
rs7534058	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7534948	0.80[AMR][1000 genomes]
rs7549160	0.82[JPT][hapmap]

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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
3	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175882600-175910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:175889200-175937800	Weak transcription	Osteobl	bone
8	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:175897600-175911000	Weak transcription	Thymus	Thymus
12	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
15	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
16	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:175901800-175925800	Weak transcription	HUVEC	blood vessel
18	chr1:175902400-175914800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:175902400-175917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:175903200-175924200	Weak transcription	Gastric	stomach
22	chr1:175903400-175951400	Weak transcription	K562	blood
23	chr1:175903600-175940800	Weak transcription	HMEC	breast
24	chr1:175903800-175915800	Weak transcription	GM12878-XiMat	blood
25	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
26	chr1:175904400-175911800	Strong transcription	Primary T cells from cord blood	blood
27	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
28	chr1:175904800-175911800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:175905000-175911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:175905000-175911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:175905200-175911800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:175905200-175916000	Weak transcription	NHDF-Ad	bronchial
34	chr1:175905400-175918800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:175905600-175910200	Weak transcription	Fetal Thymus	thymus
36	chr1:175905600-175911200	Weak transcription	Aorta	Aorta
37	chr1:175905600-175918800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:175906000-175911400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:175906000-175914600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:175906000-175915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:175906000-175915600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:175906000-175918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:175906000-175930000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:175906200-175914800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:175906200-175917000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:175906200-175917600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:175906200-175919000	Weak transcription	Fetal Brain Male	brain
48	chr1:175906400-175914800	Weak transcription	HSMM	muscle
49	chr1:175906400-175920800	Weak transcription	HepG2	liver
50	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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