Variant report

Variant	esv12433
Chromosome Location	chr15:34200448-34201748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34199838..34201738-chr15:34201918..34204540,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369192836	chr15:34200448-34200449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370536789	chr15:34200449-34200450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374440799	chr15:34200450-34200451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368843595	chr15:34200451-34200452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550773104	chr15:34200498-34200499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192219056	chr15:34200514-34200515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111848339	chr15:34200515-34200516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28681086	chr15:34200547-34200548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554919544	chr15:34200562-34200563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150153498	chr15:34200580-34200581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376259237	chr15:34200663-34200664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562303195	chr15:34200723-34200724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559235275	chr15:34200778-34200779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182968828	chr15:34200813-34200814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114851650	chr15:34200817-34200818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556796285	chr15:34200827-34200828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138633359	chr15:34200840-34200841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574291786	chr15:34200872-34200873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374474388	chr15:34200916-34200917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372468783	chr15:34200940-34200941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201757588	chr15:34200960-34200961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542262106	chr15:34200995-34200996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188703879	chr15:34201001-34201002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372212346	chr15:34201013-34201014	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540135826	chr15:34201017-34201018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564763644	chr15:34201107-34201108	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111712316	chr15:34201127-34201128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs193291730	chr15:34201128-34201129	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569273169	chr15:34201138-34201139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141649413	chr15:34201152-34201153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548300839	chr15:34201170-34201171	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566862742	chr15:34201289-34201290	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145312472	chr15:34201292-34201293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552889085	chr15:34201307-34201308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571124939	chr15:34201333-34201334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538079009	chr15:34201370-34201371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs137895475	chr15:34201460-34201461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149464906	chr15:34201515-34201516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199726027	chr15:34201529-34201530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536338989	chr15:34201595-34201596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184309744	chr15:34201610-34201611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112593906	chr15:34201653-34201654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552512638	chr15:34201667-34201668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188744941	chr15:34201716-34201717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34191000-34202800	Weak transcription	NHLF	lung
2	chr15:34191400-34201000	Weak transcription	Pancreas	Pancrea
3	chr15:34195000-34203400	Weak transcription	Aorta	Aorta
4	chr15:34195800-34202800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:34199200-34200800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:34199200-34201400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:34199200-34201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:34199200-34202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:34199400-34201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:34199400-34201400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr15:34199400-34201600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:34199400-34201600	Enhancers	Osteobl	bone
13	chr15:34199600-34201200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:34199600-34201600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:34199600-34201600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr15:34199600-34220800	Weak transcription	Right Atrium	heart
17	chr15:34199800-34200600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:34199800-34200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:34199800-34200800	Weak transcription	Hela-S3	cervix
20	chr15:34199800-34201000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:34199800-34202800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:34199800-34203200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:34199800-34203200	Weak transcription	Fetal Heart	heart
24	chr15:34200000-34200600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:34200000-34200600	Weak transcription	NHDF-Ad	bronchial
26	chr15:34200000-34201000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:34200000-34201000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:34200000-34202800	Weak transcription	HUVEC	blood vessel
29	chr15:34200200-34200600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:34200200-34200600	Weak transcription	NH-A	brain
31	chr15:34200200-34201400	Enhancers	HSMM	muscle
32	chr15:34200200-34201600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr15:34200600-34201200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:34200600-34201200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:34200600-34201200	Enhancers	NHDF-Ad	bronchial
36	chr15:34200600-34201400	Enhancers	NH-A	brain
37	chr15:34200600-34201600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:34200800-34201200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:34200800-34201200	Enhancers	Hela-S3	cervix
40	chr15:34200800-34201400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:34200800-34201400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:34200800-34201400	Enhancers	NHEK	skin
43	chr15:34200800-34201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:34201000-34201200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:34201000-34201200	Enhancers	Pancreas	Pancrea
46	chr15:34201000-34201200	Enhancers	GM12878-XiMat	blood
47	chr15:34201000-34201400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:34201000-34201400	Enhancers	HMEC	breast
49	chr15:34201000-34201600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr15:34201000-34201600	Enhancers	H1 Cell Line	embryonic stem cell

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