Variant report

Variant	rs1148183
Chromosome Location	chr10:28617228-28617229
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	chr10:28616149..28619065-chr10:28621804..28623481,2	K562	blood:
2	chr10:28590494..28592156-chr10:28616581..28618601,2	K562	blood:

Variant related genes	Relation type
ENSG00000150054	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11006935	0.82[CHB][hapmap]
rs11006941	0.82[CHB][hapmap]
rs11006942	0.82[CHB][hapmap]
rs1148177	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148179	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148180	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148181	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148187	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1148189	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12098315	0.93[ASN][1000 genomes]
rs12098709	0.85[ASN][1000 genomes]
rs12098711	0.88[ASN][1000 genomes]
rs12098714	0.92[ASN][1000 genomes]
rs12098807	0.93[ASN][1000 genomes]
rs12254745	0.82[CHB][hapmap]
rs1249340	0.81[ASN][1000 genomes]
rs1249347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1249348	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1273097	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16928633	0.82[CHB][hapmap]
rs1762188	0.83[ASN][1000 genomes]
rs2100614	1.00[CHB][hapmap]
rs2447629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34827546	0.93[ASN][1000 genomes]
rs61845947	0.83[ASN][1000 genomes]
rs7078271	0.82[CHB][hapmap]
rs7100335	0.82[CHB][hapmap]
rs72803699	0.89[ASN][1000 genomes]
rs72805609	0.90[ASN][1000 genomes]
rs72805627	0.93[ASN][1000 genomes]
rs72805630	0.85[ASN][1000 genomes]
rs72805631	0.81[ASN][1000 genomes]
rs786399	0.83[AFR][1000 genomes]
rs7898888	1.00[JPT][hapmap]
rs7911615	0.82[CHB][hapmap]
rs7916525	0.82[CHB][hapmap]
rs811496	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs813081	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1044938	chr10:28601993-28659440	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28596800-28618800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr10:28614000-28619000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr10:28614600-28617800	Enhancers	Fetal Stomach	stomach
4	chr10:28614800-28620600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:28615000-28620000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr10:28615200-28617400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:28615200-28619200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr10:28615200-28621000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:28615400-28617400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:28615400-28617600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:28615600-28617400	Enhancers	Primary T cells from cord blood	blood
12	chr10:28615600-28617400	Enhancers	HMEC	breast
13	chr10:28615800-28617400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:28615800-28617600	Enhancers	Fetal Heart	heart
15	chr10:28616000-28617600	Enhancers	HSMM	muscle
16	chr10:28616000-28618200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr10:28616000-28619000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:28616000-28619600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:28616000-28621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:28616200-28617800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:28616200-28619200	Weak transcription	Fetal Thymus	thymus
22	chr10:28616200-28619800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr10:28616400-28617400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:28616400-28617400	Enhancers	Stomach Smooth Muscle	stomach
25	chr10:28616400-28618800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:28616400-28620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:28616600-28618800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:28616800-28617400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:28616800-28617800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:28616800-28618000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr10:28616800-28618200	Enhancers	Rectal Smooth Muscle	rectum
32	chr10:28616800-28618600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:28616800-28619000	Weak transcription	Primary B cells from cord blood	blood
34	chr10:28616800-28620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:28616800-28623000	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:28616800-28623800	Weak transcription	NHLF	lung
37	chr10:28617000-28617600	Enhancers	HSMMtube	muscle
38	chr10:28617000-28617800	Enhancers	NHEK	skin
39	chr10:28617000-28618800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr10:28617000-28618800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr10:28617000-28618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:28617000-28619000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:28617000-28619400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:28617000-28620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:28617000-28621000	Enhancers	Colon Smooth Muscle	Colon
46	chr10:28617000-28621600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:28617000-28621600	Weak transcription	Pancreas	Pancrea
48	chr10:28617000-28622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:28617200-28618200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr10:28617200-28621000	Weak transcription	NH-A	brain

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