Variant report

Variant	esv3374318
Chromosome Location	chr19:21761312-21764310
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	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
2	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-8	chr19:21763358-21765406	NONHSAT063728
2	lnc-ZNF100-2	chr19:21762538-21762616	NONHSAT063727

Extended variants
information (count: 184 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571251813	chr19:21761312-21761313	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78866717	chr19:21761317-21761318	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77611346	chr19:21761324-21761325	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367844171	chr19:21761337-21761338	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184420488	chr19:21761338-21761339	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375159051	chr19:21761348-21761349	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544049755	chr19:21761351-21761352	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562379757	chr19:21761358-21761359	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201672857	chr19:21761359-21761360	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546648142	chr19:21761370-21761371	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189793597	chr19:21761378-21761379	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560268023	chr19:21761386-21761387	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527346244	chr19:21761408-21761409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143616641	chr19:21761413-21761414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374720812	chr19:21761429-21761430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368763010	chr19:21761430-21761431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376522636	chr19:21761439-21761440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369456907	chr19:21761443-21761444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146342454	chr19:21761454-21761455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113954253	chr19:21761460-21761461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112315693	chr19:21761461-21761462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73027748	chr19:21761469-21761470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559816696	chr19:21761478-21761479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76112458	chr19:21761481-21761482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75366685	chr19:21761515-21761516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549653027	chr19:21761530-21761531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79118111	chr19:21761534-21761535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181388599	chr19:21761535-21761536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112620920	chr19:21761539-21761540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73027749	chr19:21761544-21761545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78724967	chr19:21761548-21761549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78542470	chr19:21761564-21761565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535433191	chr19:21761566-21761567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80167721	chr19:21761589-21761590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7253008	chr19:21761591-21761592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74493892	chr19:21761593-21761594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61563055	chr19:21761609-21761610	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73027750	chr19:21761610-21761611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs73027751	chr19:21761636-21761637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73027754	chr19:21761642-21761643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146020354	chr19:21761679-21761680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565958455	chr19:21761686-21761687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73027755	chr19:21761708-21761709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200864692	chr19:21761714-21761715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146881962	chr19:21761725-21761726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61655928	chr19:21761737-21761738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373917807	chr19:21761738-21761739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369034603	chr19:21761762-21761763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539895980	chr19:21761787-21761788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371641466	chr19:21761796-21761797	Weak transcription Strong transcription	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:42 , 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	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:21756800-21762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:21757000-21764400	Weak transcription	Pancreas	Pancrea
7	chr19:21757400-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21759400-21764600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
11	chr19:21761200-21761400	Genic enhancers	Dnd41	blood
12	chr19:21761200-21762200	Weak transcription	Primary T cells from cord blood	blood
13	chr19:21761400-21762200	Strong transcription	Dnd41	blood
14	chr19:21762200-21762400	Genic enhancers	Dnd41	blood
15	chr19:21762200-21763200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:21762200-21764000	Enhancers	Primary T cells from cord blood	blood
17	chr19:21762200-21765000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:21762400-21762600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:21762400-21762600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:21762400-21762800	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr19:21762400-21763000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr19:21762400-21763200	Enhancers	Thymus	Thymus
23	chr19:21762400-21763800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr19:21762400-21764000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:21762600-21766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:21762800-21763000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:21762800-21763200	Genic enhancers	Dnd41	blood
28	chr19:21762800-21763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:21763000-21763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:21763000-21763400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:21763200-21763800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:21763200-21763800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr19:21763200-21764400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr19:21763400-21764600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr19:21763400-21767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:21763400-21767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:21763400-21768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:21763800-21764200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr19:21763800-21764400	Genic enhancers	Dnd41	blood
40	chr19:21764000-21767400	Weak transcription	Primary T cells from cord blood	blood
41	chr19:21764000-21767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:21764200-21765000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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