Variant report

Variant	rs1203402
Chromosome Location	chr10:52200022-52200023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52193457..52195166-chr10:52196882..52200363,3	K562	blood:
2	chr10:52199088..52201538-chr10:52207064..52209688,2	K562	blood:
3	chr10:52199832..52201783-chr10:52205010..52207996,2	K562	blood:
4	chr10:52199893..52201805-chr10:52203419..52206353,2	K562	blood:
5	chr10:52199701..52201393-chr10:52203084..52204919,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1203374	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203379	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203383	0.90[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203384	0.91[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203391	0.90[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203412	0.91[CEU][hapmap];0.81[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203416	1.00[ASN][1000 genomes]
rs1203417	1.00[ASN][1000 genomes]
rs1203419	1.00[ASN][1000 genomes]
rs1203422	1.00[ASN][1000 genomes]
rs1203426	0.81[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1203427	0.90[CEU][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1209146	1.00[EUR][1000 genomes]
rs1211373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1212555	0.86[EUR][1000 genomes]
rs2024871	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064760	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2208035	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474611	1.00[ASN][1000 genomes]
rs2574945	1.00[ASN][1000 genomes]
rs2574976	1.00[ASN][1000 genomes]
rs2688874	1.00[ASN][1000 genomes]
rs2688876	1.00[ASN][1000 genomes]
rs2688883	1.00[ASN][1000 genomes]
rs2688884	1.00[ASN][1000 genomes]
rs2842099	1.00[ASN][1000 genomes]
rs2842110	1.00[ASN][1000 genomes]
rs2983346	0.80[EUR][1000 genomes]
rs2983348	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983349	0.80[EUR][1000 genomes]
rs2983372	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011712	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011715	0.91[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011768	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011795	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801753	1.00[ASN][1000 genomes]
rs7923756	1.00[ASN][1000 genomes]
rs910818	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs910819	0.90[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9416590	0.91[CEU][hapmap];0.90[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:46 , 50 per page) page: 1

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	chr10:52178800-52202800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:52179000-52205800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:52179000-52207600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr10:52179000-52209000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:52180200-52201200	Weak transcription	Fetal Heart	heart
9	chr10:52181600-52219400	Weak transcription	Placenta	Placenta
10	chr10:52181800-52206200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:52182200-52220000	Weak transcription	Fetal Stomach	stomach
12	chr10:52182600-52200600	Weak transcription	Fetal Brain Male	brain
13	chr10:52191400-52200400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:52191600-52207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:52191600-52211200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:52191800-52205400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:52191800-52219600	Weak transcription	Fetal Lung	lung
18	chr10:52192000-52219600	Weak transcription	Adipose Nuclei	Adipose
19	chr10:52192400-52200800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:52192400-52202600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:52192400-52207600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:52192400-52219400	Weak transcription	Liver	Liver
23	chr10:52192400-52219600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:52192400-52219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:52192400-52220000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:52192400-52229400	Weak transcription	Aorta	Aorta
27	chr10:52192400-52230400	Weak transcription	HSMM	muscle
28	chr10:52193000-52207400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:52193400-52205400	Weak transcription	Primary B cells from cord blood	blood
30	chr10:52193400-52206200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr10:52194200-52207600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr10:52197000-52200800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:52197600-52207600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:52197800-52229800	Weak transcription	Gastric	stomach
35	chr10:52198000-52200600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:52198200-52207600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:52198400-52207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:52198600-52200800	Enhancers	K562	blood
39	chr10:52198800-52203600	Weak transcription	Primary T cells from cord blood	blood
40	chr10:52199200-52200200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr10:52199200-52207400	Weak transcription	Brain Anterior Caudate	brain
42	chr10:52199600-52201600	Enhancers	HSMMtube	muscle
43	chr10:52199800-52202800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:52200000-52200200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr10:52200000-52200600	Enhancers	Fetal Thymus	thymus
46	chr10:52200000-52200800	Enhancers	Monocytes-CD14+_RO01746	blood

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