Variant report

Variant	nsv1065214
Chromosome Location	chr19:24521623-24596738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6194 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:6194 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3976345	chr19:24521623-24521624	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs563165262	chr19:24521625-24521626	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575051131	chr19:24521629-24521630	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542142989	chr19:24521638-24521639	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559700272	chr19:24521648-24521649	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2606277	chr19:24521668-24521669	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112389613	chr19:24521675-24521676	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs3976346	chr19:24521682-24521683	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527326680	chr19:24521691-24521692	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551851955	chr19:24521704-24521705	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201002821	chr19:24521707-24521708	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191646437	chr19:24521722-24521723	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368298527	chr19:24521723-24521724	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568274974	chr19:24521760-24521761	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2720055	chr19:24521762-24521763	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375328752	chr19:24521771-24521772	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147242382	chr19:24521775-24521776	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12462149	chr19:24521788-24521789	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566871198	chr19:24521792-24521793	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534190590	chr19:24521834-24521835	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558970715	chr19:24521836-24521837	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577284357	chr19:24521848-24521849	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538404797	chr19:24521861-24521862	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531016132	chr19:24521871-24521872	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376140211	chr19:24521884-24521885	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9989681	chr19:24521886-24521887	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs560496319	chr19:24521895-24521896	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571661077	chr19:24521940-24521941	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2606276	chr19:24521941-24521942	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564172754	chr19:24521958-24521959	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs9989679	chr19:24521963-24521964	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144642141	chr19:24521982-24521983	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113947324	chr19:24521997-24521998	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111525006	chr19:24522013-24522014	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561725732	chr19:24522030-24522031	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs529148863	chr19:24522039-24522040	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547667006	chr19:24522046-24522047	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565992004	chr19:24522077-24522078	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534152193	chr19:24522095-24522096	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112884971	chr19:24522101-24522102	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369991228	chr19:24522103-24522104	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552314066	chr19:24522114-24522115	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570850738	chr19:24522124-24522125	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537934700	chr19:24522185-24522186	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556656367	chr19:24522187-24522188	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148536748	chr19:24522188-24522189	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555515474	chr19:24522207-24522208	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs8175837	chr19:24522208-24522209	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554002218	chr19:24522230-24522231	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs151103106	chr19:24522239-24522240	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24507800-24577200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:24508000-24573400	ZNF genes & repeats	Liver	Liver
3	chr19:24508800-24569000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:24509200-24570800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:24513000-24571800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:24513400-24527000	ZNF genes & repeats	Dnd41	blood
7	chr19:24513600-24530800	ZNF genes & repeats	Psoas Muscle	Psoas
8	chr19:24520200-24522200	Weak transcription	Aorta	Aorta
9	chr19:24521200-24522200	Active TSS	Fetal Heart	heart
10	chr19:24521200-24526600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr19:24522000-24576600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:24522200-24523800	Active TSS	Aorta	Aorta
13	chr19:24523000-24523200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:24523200-24526400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr19:24523800-24524200	Weak transcription	Aorta	Aorta
16	chr19:24524000-24526600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
17	chr19:24524600-24526400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:24524800-24526600	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:24524800-24529600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:24524800-24530400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:24525200-24526400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr19:24525200-24542000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr19:24525400-24577200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr19:24525600-24526800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:24525600-24526800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr19:24525600-24526800	ZNF genes & repeats	HepG2	liver
27	chr19:24525800-24526000	Enhancers	Hela-S3	cervix
28	chr19:24525800-24526400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:24525800-24526400	ZNF genes & repeats	Brain Angular Gyrus	brain
30	chr19:24525800-24526600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr19:24525800-24526800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:24526000-24526200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
33	chr19:24526000-24526200	ZNF genes & repeats	Esophagus	oesophagus
34	chr19:24526000-24526200	Active TSS	Right Atrium	heart
35	chr19:24526000-24526200	Flanking Bivalent TSS/Enh	NHLF	lung
36	chr19:24526000-24526400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr19:24526000-24526400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr19:24526000-24526400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:24526000-24526400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:24526000-24526400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:24526000-24526400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr19:24526000-24526400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:24526000-24526400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:24526000-24526400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:24526000-24526400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:24526000-24526400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:24526000-24526400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:24526000-24526400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr19:24526000-24526400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr19:24526000-24526400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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