Variant report

Variant	nsv828507
Chromosome Location	chr19:21766005-21766517
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: 32 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565419587	chr19:21766024-21766025	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532595556	chr19:21766035-21766036	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192897291	chr19:21766051-21766052	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35107576	chr19:21766082-21766083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562827298	chr19:21766090-21766091	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375676276	chr19:21766094-21766095	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139632701	chr19:21766098-21766099	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576686602	chr19:21766106-21766107	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548493797	chr19:21766113-21766114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545638205	chr19:21766122-21766123	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566881696	chr19:21766152-21766153	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80353806	chr19:21766162-21766163	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4809141	chr19:21766173-21766174	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs527389835	chr19:21766176-21766177	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546374908	chr19:21766248-21766249	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs571346995	chr19:21766266-21766267	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs201039565	chr19:21766269-21766270	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs79334324	chr19:21766270-21766271	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs538437944	chr19:21766300-21766301	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs547223578	chr19:21766366-21766367	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs560930734	chr19:21766373-21766374	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs73027776	chr19:21766377-21766378	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs75329955	chr19:21766396-21766397	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs114078643	chr19:21766404-21766405	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs116037295	chr19:21766419-21766420	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs370194812	chr19:21766436-21766437	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs532828648	chr19:21766450-21766451	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs374621219	chr19:21766452-21766453	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs557155254	chr19:21766467-21766468	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs575530532	chr19:21766489-21766490	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs536502715	chr19:21766505-21766506	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs76134811	chr19:21766509-21766510	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
6	chr19:21762600-21766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:21763400-21767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21763400-21767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21763400-21768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:21764000-21767400	Weak transcription	Primary T cells from cord blood	blood
11	chr19:21764000-21767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:21764400-21767600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:21764600-21768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:21764800-21766200	Weak transcription	Gastric	stomach
15	chr19:21764800-21769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:21765000-21767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:21765200-21766200	Weak transcription	Pancreas	Pancrea
18	chr19:21765600-21766200	Genic enhancers	Dnd41	blood
19	chr19:21766200-21766400	ZNF genes & repeats	Brain Anterior Caudate	brain
20	chr19:21766200-21766400	ZNF genes & repeats	Gastric	stomach
21	chr19:21766200-21766600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:21766200-21766600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
23	chr19:21766200-21766600	ZNF genes & repeats	Lung	lung
24	chr19:21766200-21766600	ZNF genes & repeats	Pancreas	Pancrea
25	chr19:21766200-21766600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:21766200-21766600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr19:21766200-21766600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr19:21766200-21766800	Strong transcription	Fetal Intestine Large	intestine
29	chr19:21766200-21766800	ZNF genes & repeats	Left Ventricle	heart
30	chr19:21766200-21767000	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr19:21766200-21770600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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