Variant report

Variant	esv3461396
Chromosome Location	chr10:5602364-5604505
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5519492..5522236-chr10:5601737..5603732,2	K562	blood:
2	chr10:5594566..5598758-chr10:5599072..5603541,5	K562	blood:
3	chr10:5604398..5606617-chr10:5607814..5609704,2	K562	blood:
4	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
5	chr10:5591215..5593719-chr10:5599624..5602404,2	K562	blood:
6	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
7	chr10:5590163..5594025-chr10:5603486..5606859,3	K562	blood:
8	chr10:5495552..5497804-chr10:5602669..5605411,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173848	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573934429	chr10:5602405-5602406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190323382	chr10:5602516-5602517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9423653	chr10:5602554-5602555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376105173	chr10:5602555-5602556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533217752	chr10:5602590-5602591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142415057	chr10:5602629-5602630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs370429051	chr10:5602644-5602645	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs201528182	chr10:5602661-5602662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs563938524	chr10:5602664-5602665	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs181958024	chr10:5602670-5602671	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77640096	chr10:5602688-5602689	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568078242	chr10:5602708-5602709	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57384029	chr10:5602713-5602714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550560293	chr10:5602723-5602724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151307193	chr10:5602741-5602742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539493408	chr10:5602757-5602758	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558435278	chr10:5602769-5602770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573346921	chr10:5602807-5602808	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540290493	chr10:5602839-5602840	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540176760	chr10:5602850-5602851	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145770929	chr10:5602854-5602855	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562372841	chr10:5602855-5602856	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4881479	chr10:5602880-5602881	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559670969	chr10:5602900-5602901	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544213002	chr10:5602911-5602912	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370307951	chr10:5602913-5602914	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551134371	chr10:5602950-5602951	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376719917	chr10:5602954-5602955	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577764306	chr10:5602972-5602973	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545091393	chr10:5603007-5603008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141221528	chr10:5603036-5603037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528254385	chr10:5603038-5603039	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540395585	chr10:5603050-5603051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145182667	chr10:5603092-5603093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56687166	chr10:5603104-5603105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550598974	chr10:5603212-5603213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568866138	chr10:5603221-5603222	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533100017	chr10:5603232-5603233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551485546	chr10:5603279-5603280	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530616036	chr10:5603297-5603298	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs115544172	chr10:5603309-5603310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4359112	chr10:5603310-5603311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76774633	chr10:5603319-5603320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147550175	chr10:5603321-5603322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538101254	chr10:5603375-5603376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561727449	chr10:5603404-5603405	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556181037	chr10:5603430-5603431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187250735	chr10:5603439-5603440	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545128243	chr10:5603447-5603448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553999082	chr10:5603453-5603454	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5591400-5605400	Weak transcription	Right Atrium	heart
3	chr10:5595200-5604800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:5595600-5606200	Weak transcription	Spleen	Spleen
5	chr10:5596600-5605400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:5596800-5603600	Enhancers	HepG2	liver
7	chr10:5597000-5603400	Enhancers	Stomach Smooth Muscle	stomach
8	chr10:5597600-5606000	Weak transcription	Gastric	stomach
9	chr10:5597800-5605400	Weak transcription	Esophagus	oesophagus
10	chr10:5599000-5603200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:5599200-5604200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:5599400-5602800	Weak transcription	Fetal Intestine Small	intestine
13	chr10:5599600-5603000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:5599800-5602400	Enhancers	Rectal Smooth Muscle	rectum
15	chr10:5599800-5605600	Weak transcription	Fetal Intestine Large	intestine
16	chr10:5600000-5602600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:5600000-5603600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:5600200-5602600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:5600800-5602800	Enhancers	Colon Smooth Muscle	Colon
20	chr10:5600800-5602800	Enhancers	NHDF-Ad	bronchial
21	chr10:5600800-5603200	Enhancers	Fetal Stomach	stomach
22	chr10:5601000-5602600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:5601000-5602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:5601000-5603000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:5601200-5603200	Enhancers	Fetal Muscle Leg	muscle
26	chr10:5601400-5602400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr10:5601400-5602400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:5601400-5602400	Enhancers	Fetal Thymus	thymus
29	chr10:5601400-5602400	Flanking Active TSS	A549	lung
30	chr10:5601400-5602400	Enhancers	HSMMtube	muscle
31	chr10:5601400-5602400	Flanking Active TSS	Osteobl	bone
32	chr10:5601400-5602600	Enhancers	NHEK	skin
33	chr10:5601400-5602600	Enhancers	NHLF	lung
34	chr10:5601400-5602800	Enhancers	Fetal Brain Male	brain
35	chr10:5601400-5602800	Enhancers	HSMM	muscle
36	chr10:5601600-5602400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:5601600-5602400	Enhancers	Primary T cells from cord blood	blood
38	chr10:5601600-5602400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr10:5601600-5602400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr10:5601600-5602400	Enhancers	Fetal Heart	heart
41	chr10:5601600-5602400	Enhancers	Hela-S3	cervix
42	chr10:5601600-5602400	Flanking Active TSS	NH-A	brain
43	chr10:5601600-5602600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:5601600-5603000	Enhancers	K562	blood
45	chr10:5601600-5603600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:5601800-5602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:5601800-5602400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:5601800-5602400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:5601800-5602400	Enhancers	Fetal Brain Female	brain
50	chr10:5601800-5602400	Enhancers	Fetal Lung	lung

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