Variant report

Variant	esv3332372
Chromosome Location	chr21:47819028-47819840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47818533..47820839-chr21:47835124..47837401,2	K562	blood:
2	chr21:47816809..47819789-chr21:47819866..47822473,2	K562	blood:
3	chr21:47812512..47814982-chr21:47817374..47821381,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57936960	chr21:47819028-47819029	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182582933	chr21:47819042-47819043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187147414	chr21:47819046-47819047	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373301219	chr21:47819048-47819049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572681339	chr21:47819052-47819053	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558164406	chr21:47819091-47819092	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570347016	chr21:47819115-47819116	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191151753	chr21:47819124-47819125	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537741445	chr21:47819130-47819131	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7281168	chr21:47819145-47819146	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555731506	chr21:47819146-47819147	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138598973	chr21:47819152-47819153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374112209	chr21:47819155-47819156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368851713	chr21:47819156-47819157	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368004205	chr21:47819160-47819161	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201718225	chr21:47819178-47819179	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199670975	chr21:47819179-47819180	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76054374	chr21:47819182-47819183	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371477898	chr21:47819183-47819184	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142829971	chr21:47819187-47819188	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375183473	chr21:47819188-47819189	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368235023	chr21:47819189-47819190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372812564	chr21:47819191-47819192	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10645542	chr21:47819192-47819193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574181978	chr21:47819193-47819194	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372284110	chr21:47819195-47819196	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76347724	chr21:47819197-47819198	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376675403	chr21:47819204-47819205	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80326071	chr21:47819207-47819208	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113346709	chr21:47819212-47819213	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73907495	chr21:47819220-47819221	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78294767	chr21:47819222-47819223	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369089127	chr21:47819231-47819232	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373043735	chr21:47819238-47819239	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369507384	chr21:47819245-47819246	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112145499	chr21:47819259-47819260	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113209749	chr21:47819264-47819265	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10645543	chr21:47819269-47819270	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74788394	chr21:47819274-47819275	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78147301	chr21:47819289-47819290	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71928413	chr21:47819292-47819293	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112299264	chr21:47819296-47819297	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559037789	chr21:47819326-47819327	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80076431	chr21:47819332-47819333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112287604	chr21:47819335-47819336	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112585219	chr21:47819338-47819339	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111861981	chr21:47819343-47819344	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111594967	chr21:47819365-47819366	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200516701	chr21:47819370-47819371	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577289589	chr21:47819390-47819391	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:47801200-47826200	Strong transcription	Fetal Stomach	stomach
6	chr21:47801400-47825000	Strong transcription	Primary T cells from cord blood	blood
7	chr21:47802200-47830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:47802200-47842600	Strong transcription	Dnd41	blood
9	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
10	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:47804000-47825000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:47804000-47826200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:47804000-47826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:47804200-47824600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr21:47804200-47825000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:47804200-47825600	Strong transcription	Left Ventricle	heart
17	chr21:47804200-47826400	Strong transcription	Fetal Thymus	thymus
18	chr21:47804600-47825400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:47804600-47825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:47804600-47826200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:47804600-47827000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:47804800-47823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:47805800-47825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr21:47806200-47825000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:47806400-47824000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:47806600-47822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:47808400-47819200	Strong transcription	Spleen	Spleen
31	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr21:47813400-47823200	Strong transcription	Colonic Mucosa	Colon
33	chr21:47813800-47820600	Weak transcription	Psoas Muscle	Psoas
34	chr21:47813800-47825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
36	chr21:47814600-47834000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:47815000-47825000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr21:47815000-47825600	Strong transcription	Fetal Intestine Small	intestine
39	chr21:47815200-47820800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr21:47815200-47820800	Weak transcription	HUVEC	blood vessel
41	chr21:47815200-47822400	Weak transcription	A549	lung
42	chr21:47815800-47823600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:47816000-47819800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr21:47816000-47820400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr21:47816000-47824400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr21:47816000-47825200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:47816000-47826400	Strong transcription	Osteobl	bone
48	chr21:47816200-47819200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:47816200-47819400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:47816200-47820000	Strong transcription	Hela-S3	cervix

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