Variant report

Variant	rs1916571
Chromosome Location	chr10:52208373-52208374
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:
2	chr10:52199088..52201538-chr10:52207064..52209688,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10490963	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490964	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11005626	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11005959	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12257419	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12262259	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369860	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17438825	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440448	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17518471	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17519121	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17519380	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17721658	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17721694	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17721713	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17778152	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916568	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916569	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060560	0.93[ASN][1000 genomes]
rs2064759	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2117961	0.85[ASN][1000 genomes]
rs2117962	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255387	0.93[ASN][1000 genomes]
rs2255720	0.93[ASN][1000 genomes]
rs2255849	0.93[ASN][1000 genomes]
rs2255853	0.93[ASN][1000 genomes]
rs2255859	0.91[ASN][1000 genomes]
rs2574955	0.93[ASN][1000 genomes]
rs2574956	0.93[ASN][1000 genomes]
rs2574975	0.81[ASN][1000 genomes]
rs2574981	0.93[ASN][1000 genomes]
rs2688875	0.90[ASN][1000 genomes]
rs2688877	0.87[ASN][1000 genomes]
rs2688879	0.93[ASN][1000 genomes]
rs2842102	0.93[ASN][1000 genomes]
rs2842105	0.93[ASN][1000 genomes]
rs2842106	0.93[ASN][1000 genomes]
rs2842107	0.93[ASN][1000 genomes]
rs2842109	0.93[ASN][1000 genomes]
rs34672995	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34928652	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3802537	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4935152	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4935673	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4935703	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4935713	0.91[ASN][1000 genomes]
rs4935729	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4935731	0.87[AMR][1000 genomes]
rs4935732	0.87[AMR][1000 genomes]
rs55773344	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55861418	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56078228	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080689	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56133398	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56225400	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56268559	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56277433	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56403030	0.87[AMR][1000 genomes]
rs61559519	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61741330	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856761	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856763	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856778	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856782	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856787	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856788	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61856793	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61856794	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856795	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856832	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61858062	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61858064	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858065	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858068	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61858069	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61858108	0.86[AMR][1000 genomes]
rs61858206	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61858207	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7067626	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7068430	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069115	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7082805	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7092753	0.98[ASN][1000 genomes]
rs7099450	0.82[EUR][1000 genomes]
rs72801752	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72801754	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72801768	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801775	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72801776	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72801781	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7392702	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7475420	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7893281	0.84[EUR][1000 genomes]
rs7921632	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs884880	0.88[EUR][1000 genomes];0.94[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:59 , 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	chr10:52179000-52209000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:52181600-52219400	Weak transcription	Placenta	Placenta
6	chr10:52182200-52220000	Weak transcription	Fetal Stomach	stomach
7	chr10:52191600-52211200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr10:52191800-52219600	Weak transcription	Fetal Lung	lung
9	chr10:52192000-52219600	Weak transcription	Adipose Nuclei	Adipose
10	chr10:52192400-52219400	Weak transcription	Liver	Liver
11	chr10:52192400-52219600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr10:52192400-52219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:52192400-52220000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:52192400-52229400	Weak transcription	Aorta	Aorta
15	chr10:52192400-52230400	Weak transcription	HSMM	muscle
16	chr10:52197800-52229800	Weak transcription	Gastric	stomach
17	chr10:52200800-52216000	Weak transcription	K562	blood
18	chr10:52201000-52214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:52202200-52214000	Weak transcription	Fetal Heart	heart
20	chr10:52203000-52219400	Weak transcription	Ovary	ovary
21	chr10:52203200-52219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:52203800-52219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:52204400-52228600	Weak transcription	NHDF-Ad	bronchial
24	chr10:52206600-52209400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:52206600-52211400	Weak transcription	Primary B cells from cord blood	blood
26	chr10:52206600-52215000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:52206600-52217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:52206600-52217600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr10:52206600-52219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:52206600-52219600	Weak transcription	Fetal Intestine Large	intestine
31	chr10:52206800-52213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr10:52207000-52212200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:52207200-52219400	Weak transcription	Fetal Muscle Leg	muscle
34	chr10:52207600-52208400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:52207800-52208600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:52207800-52209000	Weak transcription	Brain Substantia Nigra	brain
37	chr10:52207800-52209200	Weak transcription	Brain Anterior Caudate	brain
38	chr10:52207800-52212000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr10:52207800-52212200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:52207800-52219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:52207800-52220000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:52207800-52221800	Weak transcription	Psoas Muscle	Psoas
43	chr10:52208000-52209000	Weak transcription	Brain Angular Gyrus	brain
44	chr10:52208000-52209000	Weak transcription	GM12878-XiMat	blood
45	chr10:52208000-52209200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:52208000-52210000	Weak transcription	NHEK	skin
47	chr10:52208000-52212400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr10:52208000-52212400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr10:52208000-52217200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:52208000-52219400	Weak transcription	Primary T cells from cord blood	blood

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