Variant report

Variant	esv3318432
Chromosome Location	chr19:20180363-20180821
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	chr19:20160443..20163353-chr19:20178782..20180876,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562114802	chr19:20180428-20180429	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531221904	chr19:20180437-20180438	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551020949	chr19:20180441-20180442	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140508929	chr19:20180449-20180450	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111646096	chr19:20180464-20180465	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547213205	chr19:20180473-20180474	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551466911	chr19:20180494-20180495	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567039394	chr19:20180500-20180501	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536177190	chr19:20180598-20180599	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56953046	chr19:20180620-20180621	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57600567	chr19:20180641-20180642	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538244229	chr19:20180650-20180651	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558276796	chr19:20180679-20180680	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578171777	chr19:20180682-20180683	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4809024	chr19:20180694-20180695	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553959357	chr19:20180703-20180704	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571310062	chr19:20180710-20180711	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372739832	chr19:20180732-20180733	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188875215	chr19:20180740-20180741	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59452639	chr19:20180750-20180751	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20178200-20180400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:20178600-20181600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:20179600-20181200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr19:20179600-20181600	Weak transcription	Fetal Intestine Small	intestine
5	chr19:20179600-20182000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr19:20179800-20180600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr19:20180200-20180400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:20180200-20180400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:20180200-20181600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr19:20180200-20181600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:20180200-20181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:20180200-20182200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:20180400-20181000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr19:20180600-20181000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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