Variant report

Variant	esv3372815
Chromosome Location	chr19:21766974-21767379
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	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148730068	chr19:21767058-21767059	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142268643	chr19:21767119-21767120	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554902223	chr19:21767122-21767123	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566789779	chr19:21767128-21767129	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151019713	chr19:21767138-21767139	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558877967	chr19:21767158-21767159	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551816427	chr19:21767232-21767233	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577192210	chr19:21767248-21767249	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113387533	chr19:21767259-21767260	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371278404	chr19:21767281-21767282	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574688724	chr19:21767311-21767312	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534293570	chr19:21767354-21767355	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372902136	chr19:21767369-21767370	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
3	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
5	chr19:21763400-21767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:21763400-21767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:21763400-21768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:21764000-21767400	Weak transcription	Primary T cells from cord blood	blood
9	chr19:21764000-21767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:21764400-21767600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:21764600-21768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:21764800-21769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:21765000-21767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:21766200-21767000	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr19:21766200-21770600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:21766600-21767600	Weak transcription	Pancreas	Pancrea
17	chr19:21766600-21768000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:21766600-21768000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:21766600-21769200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:21766800-21767000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:21766800-21767200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:21766800-21768000	Weak transcription	Left Ventricle	heart
23	chr19:21766800-21768200	Weak transcription	Fetal Intestine Large	intestine
24	chr19:21767000-21767400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:21767000-21767400	Genic enhancers	Dnd41	blood
26	chr19:21767200-21767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:21767200-21768800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:21767200-21768800	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links