Variant report

Variant	rs4949033
Chromosome Location	chr10:43279472-43279473
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43046301..43049301-chr10:43278095..43279962,3	K562	blood:
2	chr10:43132020..43136600-chr10:43277441..43279853,5	MCF-7	breast:
3	chr10:43132257..43135644-chr10:43275563..43280155,11	MCF-7	breast:
4	chr10:43278278..43279935-chr10:43297692..43300575,2	K562	blood:
5	chr10:43132954..43135205-chr10:43277445..43279937,2	K562	blood:
6	chr10:42969989..42972327-chr10:43278200..43280239,2	K562	blood:

Variant related genes	Relation type
ENSG00000185904	Chromatin interaction
ENSG00000272373	Chromatin interaction
ENSG00000234420	Chromatin interaction
ENSG00000196693	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1008751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10466247	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751394	0.82[EUR][1000 genomes]
rs10793636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10900268	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900271	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10900273	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10900276	0.81[ASN][1000 genomes]
rs10900278	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11239763	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs11239766	0.86[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs11239774	0.92[ASN][1000 genomes]
rs11239781	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11239782	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11239784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11239785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11239787	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12240444	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12241247	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12570118	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12770094	0.85[ASN][1000 genomes]
rs1539292	0.91[ASN][1000 genomes]
rs1539293	0.96[ASN][1000 genomes]
rs1539294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1575039	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2142985	0.90[CHB][hapmap];0.98[ASN][1000 genomes]
rs2419111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2419112	0.98[ASN][1000 genomes]
rs34081555	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34109078	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3758514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3758516	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3982211	0.81[ASN][1000 genomes]
rs4379783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4948689	0.80[EUR][1000 genomes]
rs4949035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs624804	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6593491	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6593492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593494	0.90[CHB][hapmap];0.98[ASN][1000 genomes]
rs6593495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6593496	0.91[ASN][1000 genomes]
rs6593499	0.85[CHB][hapmap]
rs7069774	0.93[ASN][1000 genomes]
rs7074877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7080924	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7086238	0.90[CHB][hapmap];0.97[ASN][1000 genomes]
rs7089449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7091406	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7133	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7895230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7896943	0.97[ASN][1000 genomes]
rs7904312	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7909445	0.81[ASN][1000 genomes]
rs7922246	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7922559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9326544	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv947889	chr10:43278237-43290003	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43277200-43279800	Active TSS	GM12878-XiMat	blood
2	chr10:43277400-43279600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:43277400-43279800	Active TSS	A549	lung
4	chr10:43278800-43279600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr10:43279000-43279800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:43279000-43280000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:43279000-43280000	Weak transcription	Placenta	Placenta
8	chr10:43279000-43280200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:43279000-43281000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:43279000-43281000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:43279000-43281000	Weak transcription	Aorta	Aorta
12	chr10:43279000-43281000	Weak transcription	Esophagus	oesophagus
13	chr10:43279000-43281000	Weak transcription	Gastric	stomach
14	chr10:43279000-43281000	Weak transcription	Pancreas	Pancrea
15	chr10:43279000-43281000	Weak transcription	Spleen	Spleen
16	chr10:43279000-43284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:43279000-43288200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:43279000-43292000	Weak transcription	Stomach Mucosa	stomach
19	chr10:43279200-43279600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr10:43279200-43279600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:43279200-43279600	Enhancers	Liver	Liver
22	chr10:43279200-43279600	Enhancers	Brain Angular Gyrus	brain
23	chr10:43279200-43279600	Enhancers	NHEK	skin
24	chr10:43279200-43279800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:43279200-43279800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:43279200-43279800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:43279200-43279800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:43279200-43279800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr10:43279200-43279800	Enhancers	Primary B cells from cord blood	blood
30	chr10:43279200-43279800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:43279200-43279800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:43279200-43279800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr10:43279200-43279800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:43279200-43279800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr10:43279200-43279800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr10:43279200-43279800	Weak transcription	Fetal Intestine Small	intestine
37	chr10:43279200-43279800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:43279200-43279800	Weak transcription	Fetal Stomach	stomach
39	chr10:43279200-43279800	Weak transcription	Left Ventricle	heart
40	chr10:43279200-43279800	Weak transcription	Lung	lung
41	chr10:43279200-43279800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr10:43279200-43280000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:43279200-43280000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr10:43279200-43280000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:43279200-43280000	Weak transcription	Brain Germinal Matrix	brain
46	chr10:43279200-43280000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:43279200-43280000	Weak transcription	Fetal Brain Female	brain
48	chr10:43279200-43280000	Weak transcription	Fetal Kidney	kidney
49	chr10:43279200-43280000	Weak transcription	Fetal Lung	lung
50	chr10:43279200-43280000	Weak transcription	Fetal Thymus	thymus

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