Variant report

Variant	esv3348374
Chromosome Location	chr10:1401908-1402403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1401084..1403502-chr10:1416856..1418570,2	MCF-7	breast:
2	chr10:1196353..1198112-chr10:1400787..1402987,2	K562	blood:
3	chr10:1401821..1403761-chr10:1404646..1408124,3	MCF-7	breast:
4	chr10:1398928..1400569-chr10:1400763..1403740,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540288583	chr10:1401912-1401913	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs560597899	chr10:1401913-1401914	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs369651375	chr10:1401915-1401916	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs146989241	chr10:1401944-1401945	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs562792324	chr10:1401958-1401959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs531876735	chr10:1401965-1401966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2805573	chr10:1401967-1401968	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184646823	chr10:1401971-1401972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs527253683	chr10:1401981-1401982	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs547094196	chr10:1402019-1402020	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12269364	chr10:1402028-1402029	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11250456	chr10:1402046-1402047	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556383245	chr10:1402077-1402078	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569825329	chr10:1402089-1402090	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35486288	chr10:1402098-1402099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189042097	chr10:1402120-1402121	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570740446	chr10:1402131-1402132	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555605778	chr10:1402166-1402167	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539631145	chr10:1402167-1402168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572262908	chr10:1402190-1402191	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112406148	chr10:1402191-1402192	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553780018	chr10:1402202-1402203	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs576924266	chr10:1402219-1402220	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs545936274	chr10:1402246-1402247	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs562653924	chr10:1402253-1402254	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs531745102	chr10:1402254-1402255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542081419	chr10:1402288-1402289	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs567058296	chr10:1402318-1402319	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs562372758	chr10:1402321-1402322	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs79300343	chr10:1402329-1402330	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs192894693	chr10:1402340-1402341	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs112120080	chr10:1402352-1402353	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs569766733	chr10:1402353-1402354	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs113077893	chr10:1402357-1402358	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs58768271	chr10:1402358-1402359	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs71491373	chr10:1402389-1402390	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535601143	chr10:1402397-1402398	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Breast cancer	21509527	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
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1400000-1404000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr10:1400200-1402000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:1400200-1403000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:1400200-1404600	Enhancers	Dnd41	blood
5	chr10:1400400-1402200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr10:1400400-1402600	Weak transcription	Brain Germinal Matrix	brain
7	chr10:1400400-1402800	Enhancers	Primary B cells from peripheral blood	blood
8	chr10:1400400-1402800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:1400400-1403000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:1400400-1404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr10:1400600-1404000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:1400600-1404000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:1400800-1402400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr10:1401200-1402200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr10:1401200-1402400	Enhancers	Primary B cells from cord blood	blood
16	chr10:1401200-1403600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr10:1401200-1404600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:1401400-1402000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:1401400-1402000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:1401400-1402400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr10:1401400-1402400	Enhancers	HSMM	muscle
22	chr10:1401400-1402600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:1401400-1402800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:1401400-1402800	Bivalent Enhancer	Placenta	Placenta
25	chr10:1401400-1403000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:1401400-1403000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:1401400-1403000	Flanking Active TSS	Hela-S3	cervix
28	chr10:1401400-1403200	Enhancers	Fetal Thymus	thymus
29	chr10:1401400-1403800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:1401400-1404000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:1401800-1402000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr10:1401800-1402000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr10:1401800-1402000	Flanking Active TSS	NHEK	skin
34	chr10:1401800-1402200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:1401800-1402400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr10:1401800-1402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr10:1401800-1402800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:1401800-1403000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr10:1401800-1403400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:1401800-1404600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:1402000-1402200	Enhancers	Primary T cells from cord blood	blood
42	chr10:1402000-1402200	Enhancers	NHEK	skin
43	chr10:1402000-1402400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:1402000-1402800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr10:1402000-1403600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:1402200-1402400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr10:1402200-1402400	Flanking Active TSS	NHEK	skin
48	chr10:1402200-1402800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr10:1402200-1403600	Bivalent Enhancer	Fetal Stomach	stomach
50	chr10:1402200-1403800	Enhancers	Fetal Muscle Leg	muscle

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