Variant report

Variant	esv3386475
Chromosome Location	chr19:21126562-21128510
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	chr19:21124387..21126595-chr19:21129898..21132890,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF85-4	chr19:21125607-21126783	NR_045830

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF85	hsa-miR-26b-5p	chr19:21126672-21126693

Extended variants
information (count: 101 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56094670	chr19:21126562-21126563	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573617163	chr19:21126570-21126571	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs55844489	chr19:21126574-21126575	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562280643	chr19:21126595-21126596	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs112851821	chr19:21126623-21126624	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs34567643	chr19:21126761-21126762	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs191770529	chr19:21126762-21126763	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564647507	chr19:21126782-21126783	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs537950700	chr19:21126791-21126792	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199586969	chr19:21126799-21126800	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184316593	chr19:21126820-21126821	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546617409	chr19:21126821-21126822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138238441	chr19:21126826-21126827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529166173	chr19:21126863-21126864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73017144	chr19:21126888-21126889	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566684896	chr19:21126889-21126890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568960484	chr19:21126927-21126928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143618165	chr19:21126942-21126943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142844272	chr19:21126958-21126959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374647817	chr19:21126959-21126960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201926467	chr19:21126960-21126961	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143995388	chr19:21126971-21126972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571364633	chr19:21127048-21127049	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35087386	chr19:21127082-21127083	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35709943	chr19:21127107-21127108	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10418956	chr19:21127146-21127147	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555987107	chr19:21127153-21127154	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187457851	chr19:21127158-21127159	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556923294	chr19:21127189-21127190	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201395739	chr19:21127199-21127200	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148247384	chr19:21127232-21127233	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147418645	chr19:21127284-21127285	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58149655	chr19:21127289-21127290	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533705680	chr19:21127295-21127296	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577750002	chr19:21127300-21127301	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141185451	chr19:21127301-21127302	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553675401	chr19:21127324-21127325	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139777319	chr19:21127337-21127338	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60574024	chr19:21127339-21127340	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553015138	chr19:21127411-21127412	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560135753	chr19:21127430-21127431	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60450568	chr19:21127436-21127437	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529203640	chr19:21127440-21127441	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58497916	chr19:21127454-21127455	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55873134	chr19:21127456-21127457	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116421030	chr19:21127457-21127458	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77196362	chr19:21127461-21127462	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77744285	chr19:21127462-21127463	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76749309	chr19:21127494-21127495	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55848071	chr19:21127522-21127523	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:42)

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
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21106600-21129800	Weak transcription	Stomach Mucosa	stomach
2	chr19:21106800-21128200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:21106800-21131000	Weak transcription	Gastric	stomach
4	chr19:21107000-21128000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr19:21107000-21133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21107200-21127200	Weak transcription	Brain Angular Gyrus	brain
7	chr19:21107200-21127400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:21107200-21132600	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:21107200-21133800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21107400-21128000	Weak transcription	NHDF-Ad	bronchial
11	chr19:21107400-21131600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:21107600-21127000	Weak transcription	Fetal Kidney	kidney
13	chr19:21107600-21133400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21111800-21131000	Weak transcription	NH-A	brain
15	chr19:21113600-21127200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:21114400-21132800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:21116600-21133400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:21116800-21126600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:21117600-21126600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:21117800-21128400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr19:21118000-21127200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr19:21118400-21131600	Weak transcription	Fetal Thymus	thymus
23	chr19:21119200-21129200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:21120000-21133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:21120600-21126600	Strong transcription	Thymus	Thymus
26	chr19:21120600-21128200	Weak transcription	Esophagus	oesophagus
27	chr19:21120800-21126800	Weak transcription	NHEK	skin
28	chr19:21120800-21128200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:21121200-21130400	Weak transcription	Pancreas	Pancrea
30	chr19:21122200-21133400	Weak transcription	Brain Substantia Nigra	brain
31	chr19:21122600-21128000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:21122800-21126800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:21122800-21128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:21123000-21128800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:21123000-21129000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:21123200-21128200	Weak transcription	Fetal Stomach	stomach
37	chr19:21123400-21128000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr19:21123600-21127800	Weak transcription	Right Ventricle	heart
39	chr19:21124400-21127200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:21124600-21129000	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr19:21125000-21127200	ZNF genes & repeats	Fetal Lung	lung
42	chr19:21125000-21127200	ZNF genes & repeats	Lung	lung
43	chr19:21125000-21127400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:21125000-21129000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr19:21125200-21126600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:21125200-21126600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:21125400-21126600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr19:21125400-21127200	ZNF genes & repeats	Fetal Brain Female	brain
49	chr19:21125400-21128600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr19:21125400-21129600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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