Variant report

Variant	rs1321297
Chromosome Location	chr20:13364884-13364885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1024208	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1028849	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12329620	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12479480	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479520	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479594	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12479746	1.00[EUR][1000 genomes]
rs12479849	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480005	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480101	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480266	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12480276	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12480277	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12480285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480426	1.00[EUR][1000 genomes]
rs12480457	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480587	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481107	1.00[EUR][1000 genomes]
rs12481227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812562	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2008702	1.00[ASN][1000 genomes]
rs2038437	1.00[ASN][1000 genomes]
rs2145139	1.00[ASN][1000 genomes]
rs2145140	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2327755	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34573439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34988299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57675086	1.00[ASN][1000 genomes]
rs57873080	1.00[ASN][1000 genomes]
rs58129464	1.00[ASN][1000 genomes]
rs59051161	1.00[ASN][1000 genomes]
rs59299264	1.00[ASN][1000 genomes]
rs59388287	1.00[ASN][1000 genomes]
rs6033689	1.00[ASN][1000 genomes]
rs6033690	1.00[ASN][1000 genomes]
rs6033693	1.00[ASN][1000 genomes]
rs6033694	1.00[JPT][hapmap]
rs6033695	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033699	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033702	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033703	1.00[ASN][1000 genomes]
rs6033704	1.00[ASN][1000 genomes]
rs6033706	1.00[ASN][1000 genomes]
rs6033708	1.00[ASN][1000 genomes]
rs6033712	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033714	1.00[ASN][1000 genomes]
rs6033716	1.00[ASN][1000 genomes]
rs6033718	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042069	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042075	1.00[ASN][1000 genomes]
rs6042077	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042079	1.00[ASN][1000 genomes]
rs6042081	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042082	1.00[ASN][1000 genomes]
rs6042083	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042084	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042086	1.00[ASN][1000 genomes]
rs6042089	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042095	1.00[ASN][1000 genomes]
rs6042101	1.00[ASN][1000 genomes]
rs6042107	1.00[ASN][1000 genomes]
rs6042108	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042111	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042113	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042116	1.00[ASN][1000 genomes]
rs6042120	1.00[ASN][1000 genomes]
rs6042121	1.00[ASN][1000 genomes]
rs6042130	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042136	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042142	1.00[JPT][hapmap]
rs6042154	1.00[JPT][hapmap]
rs6042212	1.00[JPT][hapmap]
rs6105082	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105083	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105088	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105089	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105094	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105097	1.00[ASN][1000 genomes]
rs6105108	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105109	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6105111	0.83[EUR][1000 genomes]
rs6109849	1.00[ASN][1000 genomes]
rs6109859	1.00[ASN][1000 genomes]
rs6109863	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109866	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109868	1.00[ASN][1000 genomes]
rs6109869	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109870	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109871	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109872	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109873	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109883	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109886	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109888	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109889	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109895	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109896	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109900	1.00[ASN][1000 genomes]
rs6109901	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109902	1.00[ASN][1000 genomes]
rs6109904	1.00[JPT][hapmap]
rs61151551	1.00[ASN][1000 genomes]
rs61612076	1.00[ASN][1000 genomes]
rs7274078	1.00[JPT][hapmap]
rs73264980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7348566	1.00[ASN][1000 genomes]
rs73901179	1.00[ASN][1000 genomes]
rs8119260	1.00[ASN][1000 genomes]
rs927122	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9653627	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13358800-13365600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:13360200-13368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:13361800-13369400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr20:13362200-13365400	Weak transcription	Thymus	Thymus
5	chr20:13362400-13368200	Weak transcription	Primary B cells from cord blood	blood
6	chr20:13362400-13370600	Weak transcription	HepG2	liver
7	chr20:13362600-13374000	Weak transcription	Fetal Lung	lung
8	chr20:13362600-13376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:13362800-13366000	Weak transcription	Gastric	stomach
10	chr20:13362800-13368000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr20:13362800-13368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr20:13362800-13368400	Weak transcription	A549	lung
13	chr20:13362800-13368400	Weak transcription	NHEK	skin
14	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:13363200-13377400	Weak transcription	Fetal Brain Female	brain
16	chr20:13363400-13366000	Weak transcription	Fetal Intestine Large	intestine
17	chr20:13363400-13373200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr20:13363600-13366600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:13363600-13366600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:13363600-13366800	ZNF genes & repeats	Aorta	Aorta
21	chr20:13363600-13375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:13363600-13375800	Weak transcription	HSMMtube	muscle
23	chr20:13363800-13365000	Weak transcription	Placenta	Placenta
24	chr20:13363800-13366000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:13363800-13366200	Strong transcription	Fetal Stomach	stomach
26	chr20:13363800-13368000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr20:13363800-13368800	Weak transcription	Fetal Kidney	kidney
28	chr20:13363800-13373400	Weak transcription	Liver	Liver
29	chr20:13363800-13376200	Weak transcription	Fetal Muscle Leg	muscle
30	chr20:13364000-13365000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr20:13364000-13365800	Weak transcription	Left Ventricle	heart
32	chr20:13364000-13366000	Weak transcription	Ovary	ovary
33	chr20:13364000-13368000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr20:13364000-13368200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr20:13364000-13377400	Weak transcription	Brain Angular Gyrus	brain
36	chr20:13364200-13368400	Weak transcription	HMEC	breast
37	chr20:13364400-13365600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:13364400-13365600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:13364400-13366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:13364400-13368600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr20:13364400-13370800	Weak transcription	Fetal Intestine Small	intestine
42	chr20:13364400-13371000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr20:13364400-13376400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
45	chr20:13364600-13365200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr20:13364600-13365400	Weak transcription	Pancreas	Pancrea
47	chr20:13364600-13365800	Weak transcription	Adipose Nuclei	Adipose
48	chr20:13364600-13367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:13364600-13368200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr20:13364600-13368200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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