Variant report

Variant	esv3361264
Chromosome Location	chr19:21765012-21767610
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-8	chr19:21763358-21765406	NONHSAT063728

Extended variants
information (count: 127 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1401925	chr19:21765015-21765016	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371914230	chr19:21765092-21765093	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557804297	chr19:21765097-21765098	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
4	rs543070214	chr19:21765168-21765169	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
5	rs183115975	chr19:21765199-21765200	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187770092	chr19:21765239-21765240	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
7	rs544622980	chr19:21765243-21765244	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553415372	chr19:21765305-21765306	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
9	rs193137615	chr19:21765367-21765368	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
10	rs200312675	chr19:21765368-21765369	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
11	rs73552443	chr19:21765384-21765385	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532753151	chr19:21765385-21765386	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
13	rs550983844	chr19:21765429-21765430	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs4809140	chr19:21765434-21765435	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs184376748	chr19:21765444-21765445	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs543295424	chr19:21765452-21765453	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs548604560	chr19:21765509-21765510	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs566939562	chr19:21765510-21765511	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs138439532	chr19:21765582-21765583	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs534393063	chr19:21765618-21765619	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374901050	chr19:21765650-21765651	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553041122	chr19:21765680-21765681	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577752532	chr19:21765691-21765692	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538872747	chr19:21765705-21765706	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369705927	chr19:21765730-21765731	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374093727	chr19:21765733-21765734	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377584846	chr19:21765739-21765740	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199718390	chr19:21765759-21765760	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73027774	chr19:21765774-21765775	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375847597	chr19:21765789-21765790	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74174022	chr19:21765790-21765791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199759438	chr19:21765794-21765795	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575642839	chr19:21765823-21765824	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112602649	chr19:21765826-21765827	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561236235	chr19:21765861-21765862	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573195385	chr19:21765917-21765918	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111727989	chr19:21765946-21765947	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561990240	chr19:21765972-21765973	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565419587	chr19:21766024-21766025	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532595556	chr19:21766035-21766036	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192897291	chr19:21766051-21766052	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35107576	chr19:21766082-21766083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562827298	chr19:21766090-21766091	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375676276	chr19:21766094-21766095	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139632701	chr19:21766098-21766099	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576686602	chr19:21766106-21766107	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548493797	chr19:21766113-21766114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545638205	chr19:21766122-21766123	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566881696	chr19:21766152-21766153	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80353806	chr19:21766162-21766163	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:56 , 50 per page) page: 1 2

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	chr19:21764400-21765200	Enhancers	Pancreas	Pancrea
13	chr19:21764400-21765600	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr19:21764400-21767600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:21764600-21768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:21764800-21766200	Weak transcription	Gastric	stomach
17	chr19:21764800-21769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:21765000-21767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:21765200-21766200	Weak transcription	Pancreas	Pancrea
20	chr19:21765600-21766200	Genic enhancers	Dnd41	blood
21	chr19:21766200-21766400	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr19:21766200-21766400	ZNF genes & repeats	Gastric	stomach
23	chr19:21766200-21766600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:21766200-21766600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr19:21766200-21766600	ZNF genes & repeats	Lung	lung
26	chr19:21766200-21766600	ZNF genes & repeats	Pancreas	Pancrea
27	chr19:21766200-21766600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr19:21766200-21766600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
29	chr19:21766200-21766600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
30	chr19:21766200-21766800	Strong transcription	Fetal Intestine Large	intestine
31	chr19:21766200-21766800	ZNF genes & repeats	Left Ventricle	heart
32	chr19:21766200-21767000	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr19:21766200-21770600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:21766600-21767600	Weak transcription	Pancreas	Pancrea
35	chr19:21766600-21768000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:21766600-21768000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:21766600-21769200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:21766800-21767000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:21766800-21767200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:21766800-21768000	Weak transcription	Left Ventricle	heart
41	chr19:21766800-21768200	Weak transcription	Fetal Intestine Large	intestine
42	chr19:21767000-21767400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:21767000-21767400	Genic enhancers	Dnd41	blood
44	chr19:21767200-21767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:21767200-21768800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr19:21767200-21768800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr19:21767400-21767800	Enhancers	Thymus	Thymus
48	chr19:21767400-21768000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:21767400-21768600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:21767400-21768600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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