Variant report

Variant	nsv458533
Chromosome Location	chr19:28449811-28466280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:28464838..28465364-chr19:28707556..28708271,2	MCF-7	breast:
2	chr19:28464703..28465634-chr19:28707512..28708625,5	MCF-7	breast:
3	chr19:28464493..28465594-chr19:28815026..28816551,6	MCF-7	breast:
4	chr19:28456998..28457870-chr2:21351809..21352309,2	MCF-7	breast:

Extended variants
information (count: 615 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2190798	chr19:28449811-28449812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113942795	chr19:28449827-28449828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36109864	chr19:28449832-28449833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148193840	chr19:28449859-28449860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537653448	chr19:28449867-28449868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555637893	chr19:28449879-28449880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573719121	chr19:28449916-28449917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5827574	chr19:28449924-28449925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35190992	chr19:28449925-28449926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35201442	chr19:28449926-28449927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540764098	chr19:28450016-28450017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559331149	chr19:28450020-28450021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577204643	chr19:28450054-28450055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544573622	chr19:28450055-28450056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563267189	chr19:28450059-28450060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530670997	chr19:28450063-28450064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542817679	chr19:28450065-28450066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35933205	chr19:28450082-28450083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560917559	chr19:28450088-28450089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369260379	chr19:28450125-28450126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549993060	chr19:28450217-28450218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192492200	chr19:28450225-28450226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35093383	chr19:28450240-28450241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185101934	chr19:28450260-28450261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533385545	chr19:28450261-28450262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34994727	chr19:28450263-28450264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551753042	chr19:28450267-28450268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114221433	chr19:28450300-28450301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537331492	chr19:28450356-28450357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555972454	chr19:28450414-28450415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62115467	chr19:28450442-28450443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs75345935	chr19:28450450-28450451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552667497	chr19:28450458-28450459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577293578	chr19:28450473-28450474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544610513	chr19:28450489-28450490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371312767	chr19:28450534-28450535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10412000	chr19:28450552-28450553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575191178	chr19:28450560-28450561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542556622	chr19:28450663-28450664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74360195	chr19:28450692-28450693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397810077	chr19:28450702-28450703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62115469	chr19:28450705-28450706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561166312	chr19:28450715-28450716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10422672	chr19:28450726-28450727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535024417	chr19:28450727-28450728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73035895	chr19:28450750-28450751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs118010644	chr19:28450807-28450808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56960315	chr19:28450873-28450874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189802535	chr19:28450907-28450908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537227952	chr19:28450911-28450912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28448800-28450000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:28450000-28450400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr19:28450000-28450400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:28450400-28451000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr19:28450400-28452600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:28450400-28453200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:28451000-28453400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:28452600-28455800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:28452800-28453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:28452800-28453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:28453000-28453600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr19:28453000-28454000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr19:28453200-28453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:28453200-28453400	Enhancers	Fetal Stomach	stomach
15	chr19:28453200-28453600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr19:28453200-28453600	Active TSS	HSMMtube	muscle
17	chr19:28453200-28453800	Bivalent Enhancer	Fetal Lung	lung
18	chr19:28453200-28454000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr19:28453200-28454400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:28453200-28454800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:28453400-28453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:28453400-28453800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:28453400-28453800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:28453400-28454000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr19:28453400-28454600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:28453400-28454600	Weak transcription	Fetal Stomach	stomach
27	chr19:28453600-28453800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:28453600-28454600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:28453800-28454600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:28453800-28455800	Enhancers	Fetal Lung	lung
31	chr19:28453800-28457000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:28454000-28461800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:28454600-28454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr19:28454600-28454800	Enhancers	Fetal Stomach	stomach
35	chr19:28454600-28455200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr19:28454600-28455800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:28454800-28455600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:28454800-28455600	Weak transcription	Fetal Stomach	stomach
39	chr19:28454800-28457600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:28454800-28464000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:28455600-28455800	Enhancers	Fetal Stomach	stomach
42	chr19:28457000-28457400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:28457400-28461800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:28460200-28460400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:28460200-28460400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr19:28460200-28461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:28460400-28461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:28461200-28464000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:28461400-28463600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:28461400-28464400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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