Variant report

Variant	rs111741529
Chromosome Location	chr10:43279752-43279753
allele	A/G
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
ENSG00000196693	Chromatin interaction
ENSG00000234420	Chromatin interaction
ENSG00000185904	Chromatin interaction
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	chr10:43277400-43279800	Active TSS	A549	lung
3	chr10:43279000-43279800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:43279000-43280000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:43279000-43280000	Weak transcription	Placenta	Placenta
6	chr10:43279000-43280200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:43279000-43281000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:43279000-43281000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:43279000-43281000	Weak transcription	Aorta	Aorta
10	chr10:43279000-43281000	Weak transcription	Esophagus	oesophagus
11	chr10:43279000-43281000	Weak transcription	Gastric	stomach
12	chr10:43279000-43281000	Weak transcription	Pancreas	Pancrea
13	chr10:43279000-43281000	Weak transcription	Spleen	Spleen
14	chr10:43279000-43284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:43279000-43288200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:43279000-43292000	Weak transcription	Stomach Mucosa	stomach
17	chr10:43279200-43279800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:43279200-43279800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:43279200-43279800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:43279200-43279800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:43279200-43279800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:43279200-43279800	Enhancers	Primary B cells from cord blood	blood
23	chr10:43279200-43279800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr10:43279200-43279800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr10:43279200-43279800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr10:43279200-43279800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:43279200-43279800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:43279200-43279800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr10:43279200-43279800	Weak transcription	Fetal Intestine Small	intestine
30	chr10:43279200-43279800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:43279200-43279800	Weak transcription	Fetal Stomach	stomach
32	chr10:43279200-43279800	Weak transcription	Left Ventricle	heart
33	chr10:43279200-43279800	Weak transcription	Lung	lung
34	chr10:43279200-43279800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:43279200-43280000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr10:43279200-43280000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr10:43279200-43280000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:43279200-43280000	Weak transcription	Brain Germinal Matrix	brain
39	chr10:43279200-43280000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:43279200-43280000	Weak transcription	Fetal Brain Female	brain
41	chr10:43279200-43280000	Weak transcription	Fetal Kidney	kidney
42	chr10:43279200-43280000	Weak transcription	Fetal Lung	lung
43	chr10:43279200-43280000	Weak transcription	Fetal Thymus	thymus
44	chr10:43279200-43280000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:43279200-43280000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:43279200-43280000	Weak transcription	Thymus	Thymus
47	chr10:43279200-43280000	Weak transcription	HSMM	muscle
48	chr10:43279200-43280200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:43279200-43280200	Weak transcription	Fetal Brain Male	brain
50	chr10:43279200-43280200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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