Variant report

Variant	esv3422653
Chromosome Location	chr10:5632021-5632301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5528878..5533686-chr10:5631469..5634620,4	MCF-7	breast:
2	chr10:5487228..5489563-chr10:5631145..5633414,3	K562	blood:
3	chr10:5623673..5635207-chr10:5656121..5669428,27	MCF-7	breast:
4	chr10:5631327..5633176-chr10:5653154..5654967,2	MCF-7	breast:
5	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
6	chr10:5558375..5560423-chr10:5631236..5633723,2	MCF-7	breast:
7	chr10:5632155..5634180-chr10:5706202..5708995,2	MCF-7	breast:
8	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
9	chr10:5624590..5636573-chr10:5652742..5661113,15	MCF-7	breast:
10	chr10:5629660..5633537-chr10:5634085..5636643,3	K562	blood:
11	chr10:5486586..5497147-chr10:5622068..5633259,25	MCF-7	breast:
12	chr10:5631393..5632960-chr10:5641583..5643544,2	MCF-7	breast:
13	chr10:5533762..5535661-chr10:5631397..5633599,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173848	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000228951	chromatin interactions
ENSG00000228685	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531089995	chr10:5632037-5632038	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs117662556	chr10:5632056-5632057	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs374821587	chr10:5632058-5632059	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs6601981	chr10:5632060-5632061	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs546694761	chr10:5632093-5632094	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs531011264	chr10:5632094-5632095	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs11597591	chr10:5632109-5632110	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536085453	chr10:5632112-5632113	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs137983824	chr10:5632115-5632116	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs554318977	chr10:5632293-5632294	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5625000-5632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:5625200-5634400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:5626000-5634600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:5626200-5636200	Weak transcription	Primary B cells from cord blood	blood
5	chr10:5626400-5633600	Enhancers	Fetal Thymus	thymus
6	chr10:5627400-5639400	Enhancers	Fetal Muscle Leg	muscle
7	chr10:5628600-5633200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:5628600-5634400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:5628600-5636200	Weak transcription	Fetal Kidney	kidney
10	chr10:5628800-5633400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:5629000-5635000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr10:5629400-5634600	Enhancers	Placenta	Placenta
13	chr10:5629800-5632200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:5629800-5632800	Weak transcription	Fetal Intestine Small	intestine
15	chr10:5629800-5633000	Weak transcription	Fetal Intestine Large	intestine
16	chr10:5629800-5634200	Weak transcription	Pancreas	Pancrea
17	chr10:5630000-5634200	Weak transcription	Right Atrium	heart
18	chr10:5630000-5636200	Weak transcription	Fetal Lung	lung
19	chr10:5630400-5632600	Enhancers	Hela-S3	cervix
20	chr10:5630400-5633200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:5630400-5633800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:5630800-5632400	Enhancers	NHEK	skin
23	chr10:5630800-5633800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:5630800-5636400	Weak transcription	Left Ventricle	heart
25	chr10:5631000-5632800	Enhancers	A549	lung
26	chr10:5631000-5633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr10:5631000-5634800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:5631200-5632400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr10:5631200-5632400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:5631200-5632400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:5631200-5632400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:5631200-5632600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:5631200-5633200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:5631200-5636200	Weak transcription	Lung	lung
35	chr10:5631400-5632400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:5631400-5632400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:5631400-5632600	Enhancers	Osteobl	bone
38	chr10:5631400-5632800	Enhancers	HSMMtube	muscle
39	chr10:5631400-5633200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:5631400-5634400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:5631600-5632400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:5631600-5632400	Enhancers	NH-A	brain
43	chr10:5631600-5632600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:5631600-5632800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr10:5631600-5633400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:5631800-5632200	Enhancers	Stomach Smooth Muscle	stomach
47	chr10:5631800-5632200	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr10:5631800-5632200	Enhancers	NHDF-Ad	bronchial
49	chr10:5631800-5632400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:5631800-5632400	Bivalent Enhancer	GM12878-XiMat	blood

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