Variant report

Variant	esv32571
Chromosome Location	chr21:15456265-15467954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 700 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79263540	chr21:15456266-15456267	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs578084977	chr21:15456280-15456281	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76259094	chr21:15456286-15456287	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191406775	chr21:15456296-15456297	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534148429	chr21:15456298-15456299	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73151510	chr21:15456302-15456303	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144384296	chr21:15456311-15456312	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147916584	chr21:15456328-15456329	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547505679	chr21:15456339-15456340	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75379227	chr21:15456369-15456370	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575328629	chr21:15456375-15456376	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533140965	chr21:15456384-15456385	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563805325	chr21:15456392-15456393	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532778027	chr21:15456398-15456399	Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62209955	chr21:15456403-15456404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13046587	chr21:15456408-15456409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529633087	chr21:15456425-15456426	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs386816386	chr21:15456434-15456435	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78501505	chr21:15456436-15456437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538412119	chr21:15456475-15456476	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551919277	chr21:15456495-15456496	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113544047	chr21:15456512-15456513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554252506	chr21:15456527-15456528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546993464	chr21:15456530-15456531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114182824	chr21:15456535-15456536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555347638	chr21:15456543-15456544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560313670	chr21:15456602-15456603	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139970797	chr21:15456606-15456607	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543309385	chr21:15456624-15456625	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6516605	chr21:15456628-15456629	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77864007	chr21:15456634-15456635	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73894204	chr21:15456655-15456656	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576036442	chr21:15456680-15456681	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114289798	chr21:15456686-15456687	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544953384	chr21:15456695-15456696	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145149430	chr21:15456710-15456711	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9977620	chr21:15456712-15456713	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565399304	chr21:15456754-15456755	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531950608	chr21:15456768-15456769	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551956318	chr21:15456774-15456775	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7277954	chr21:15456786-15456787	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113332666	chr21:15456792-15456793	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547556226	chr21:15456821-15456822	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377170132	chr21:15456822-15456823	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536221174	chr21:15456837-15456838	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369966629	chr21:15456840-15456841	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183162194	chr21:15456856-15456857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151196089	chr21:15456861-15456862	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60539781	chr21:15456874-15456875	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201143646	chr21:15456876-15456877	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	20435627	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
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
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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15445200-15458800	Weak transcription	Right Atrium	heart
4	chr21:15452000-15458000	ZNF genes & repeats	Fetal Stomach	stomach
5	chr21:15454400-15457600	ZNF genes & repeats	Dnd41	blood
6	chr21:15455400-15456400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15455400-15456600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:15455400-15457400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:15455400-15457600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr21:15455400-15457600	ZNF genes & repeats	Esophagus	oesophagus
11	chr21:15455600-15457000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:15455600-15457200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:15455600-15457400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr21:15455600-15457800	ZNF genes & repeats	Fetal Brain Female	brain
15	chr21:15455800-15456600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:15455800-15457200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:15455800-15457400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:15455800-15457600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:15455800-15457600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr21:15455800-15457800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:15455800-15457800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:15455800-15460200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:15456000-15456400	Active TSS	Primary T cells from cord blood	blood
25	chr21:15456000-15456400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr21:15456000-15457600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr21:15456000-15457600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:15456000-15457600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:15456000-15457600	ZNF genes & repeats	Ovary	ovary
30	chr21:15456000-15458000	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr21:15456000-15470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr21:15456200-15457000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:15456200-15457600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:15456200-15457600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr21:15456200-15457600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:15456200-15457600	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr21:15456200-15457800	ZNF genes & repeats	Thymus	Thymus
38	chr21:15456400-15457600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:15456400-15457600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr21:15456400-15462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:15456600-15457200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:15456600-15457200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:15456600-15457600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr21:15456600-15457600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:15456800-15457600	ZNF genes & repeats	GM12878-XiMat	blood
46	chr21:15456800-15470200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr21:15457000-15457600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr21:15457000-15457600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr21:15457000-15457600	ZNF genes & repeats	Fetal Brain Male	brain
50	chr21:15457000-15457600	ZNF genes & repeats	Fetal Lung	lung

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