Variant report

Variant	rs1203381
Chromosome Location	chr10:52212866-52212867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52206975..52208750-chr10:52212028..52214914,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1203385	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203387	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203388	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203389	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203392	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203396	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203397	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203398	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203399	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203400	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1203404	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203406	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203408	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1210065	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1210066	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1211496	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1740759	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2461912	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099450	0.97[ASN][1000 genomes]
rs7893281	0.99[ASN][1000 genomes]
rs927046	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52178400-52220000	Weak transcription	Pancreas	Pancrea
2	chr10:52178600-52217200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:52178600-52219400	Weak transcription	Left Ventricle	heart
4	chr10:52181600-52219400	Weak transcription	Placenta	Placenta
5	chr10:52182200-52220000	Weak transcription	Fetal Stomach	stomach
6	chr10:52191800-52219600	Weak transcription	Fetal Lung	lung
7	chr10:52192000-52219600	Weak transcription	Adipose Nuclei	Adipose
8	chr10:52192400-52219400	Weak transcription	Liver	Liver
9	chr10:52192400-52219600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr10:52192400-52219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:52192400-52220000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:52192400-52229400	Weak transcription	Aorta	Aorta
13	chr10:52192400-52230400	Weak transcription	HSMM	muscle
14	chr10:52197800-52229800	Weak transcription	Gastric	stomach
15	chr10:52200800-52216000	Weak transcription	K562	blood
16	chr10:52201000-52214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:52202200-52214000	Weak transcription	Fetal Heart	heart
18	chr10:52203000-52219400	Weak transcription	Ovary	ovary
19	chr10:52203200-52219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:52203800-52219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:52204400-52228600	Weak transcription	NHDF-Ad	bronchial
22	chr10:52206600-52215000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:52206600-52217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:52206600-52217600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr10:52206600-52219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:52206600-52219600	Weak transcription	Fetal Intestine Large	intestine
27	chr10:52206800-52213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:52207200-52219400	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:52207800-52219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:52207800-52220000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:52207800-52221800	Weak transcription	Psoas Muscle	Psoas
32	chr10:52208000-52217200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:52208000-52219400	Weak transcription	Primary T cells from cord blood	blood
34	chr10:52208000-52219600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr10:52208000-52219600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:52208000-52219600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr10:52208000-52219600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:52208000-52219600	Weak transcription	Thymus	Thymus
39	chr10:52208000-52240200	Weak transcription	Esophagus	oesophagus
40	chr10:52208200-52217200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr10:52208200-52229600	Weak transcription	Right Ventricle	heart
42	chr10:52208400-52230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:52208800-52219400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr10:52209400-52214000	Weak transcription	Brain Angular Gyrus	brain
45	chr10:52209400-52215600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:52209600-52213800	Weak transcription	Brain Anterior Caudate	brain
47	chr10:52209600-52220000	Weak transcription	Spleen	Spleen
48	chr10:52209600-52229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:52209800-52219800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:52211600-52213800	Weak transcription	Brain Hippocampus Middle	brain

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