Variant report

Variant	esv3439823
Chromosome Location	chr21:14338747-14339851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531427292	chr21:14338747-14338748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111650367	chr21:14338758-14338759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201979125	chr21:14338774-14338775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62222481	chr21:14338775-14338776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544826563	chr21:14338786-14338787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62222482	chr21:14338791-14338792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112297512	chr21:14338795-14338796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62222483	chr21:14338811-14338812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201258489	chr21:14338816-14338817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200890984	chr21:14338828-14338829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201874622	chr21:14338831-14338832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200202007	chr21:14338834-14338835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201121384	chr21:14338856-14338857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202194580	chr21:14338858-14338859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200471816	chr21:14338862-14338863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112227630	chr21:14338865-14338866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201856016	chr21:14338872-14338873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565431889	chr21:14338876-14338877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527891228	chr21:14338882-14338883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374238816	chr21:14338897-14338898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111869630	chr21:14338900-14338901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567641461	chr21:14338903-14338904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530355059	chr21:14338910-14338911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549749278	chr21:14338931-14338932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113758573	chr21:14338941-14338942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76691060	chr21:14338945-14338946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569760967	chr21:14338948-14338949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539075486	chr21:14338951-14338952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558790835	chr21:14338954-14338955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111261197	chr21:14338959-14338960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571384901	chr21:14338972-14338973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371083622	chr21:14338974-14338975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111993200	chr21:14338976-14338977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75903515	chr21:14338979-14338980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369309147	chr21:14338980-14338981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573964795	chr21:14338981-14338982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200571123	chr21:14338986-14338987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542982221	chr21:14338990-14338991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200278047	chr21:14338993-14338994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369491620	chr21:14338994-14338995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575954228	chr21:14339006-14339007	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75032861	chr21:14339013-14339014	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371393250	chr21:14339018-14339019	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75145063	chr21:14339024-14339025	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78604005	chr21:14339025-14339026	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77963085	chr21:14339030-14339031	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374089735	chr21:14339031-14339032	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76152318	chr21:14339033-14339034	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75357554	chr21:14339034-14339035	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78939950	chr21:14339037-14339038	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14337200-14339000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:14338200-14339400	ZNF genes & repeats	A549	lung
3	chr21:14338200-14345600	ZNF genes & repeats	Liver	Liver
4	chr21:14338200-14346000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:14338200-14346000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr21:14338400-14339600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:14338600-14339400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:14338600-14339400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr21:14338600-14339600	ZNF genes & repeats	Fetal Brain Male	brain
13	chr21:14338800-14339400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr21:14338800-14339600	ZNF genes & repeats	HUVEC	blood vessel
15	chr21:14338800-14342400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:14338800-14342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr21:14339000-14339200	ZNF genes & repeats	HepG2	liver
19	chr21:14339000-14339400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr21:14339000-14339400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:14339000-14339400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:14339000-14339400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:14339000-14339400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:14339000-14339400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr21:14339000-14339400	Active TSS	Ovary	ovary
26	chr21:14339000-14339400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr21:14339000-14339400	ZNF genes & repeats	Stomach Mucosa	stomach
28	chr21:14339000-14339400	ZNF genes & repeats	HMEC	breast
29	chr21:14339000-14339600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr21:14339200-14339400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr21:14339200-14339400	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr21:14339200-14339400	Flanking Bivalent TSS/Enh	Gastric	stomach
34	chr21:14339200-14339400	ZNF genes & repeats	Left Ventricle	heart
35	chr21:14339200-14339400	ZNF genes & repeats	GM12878-XiMat	blood
36	chr21:14339200-14339400	ZNF genes & repeats	K562	blood
37	chr21:14339200-14339600	ZNF genes & repeats	NH-A	brain
38	chr21:14339400-14340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:14339400-14340800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:14339400-14340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr21:14339400-14359000	Weak transcription	K562	blood
42	chr21:14339600-14343200	Weak transcription	NH-A	brain

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