Variant report

Variant	esv3429557
Chromosome Location	chr21:45822224-45826122
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	chr21:45805704..45807431-chr21:45822941..45824536,2	MCF-7	breast:

Extended variants
information (count: 347 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556074927	chr21:45822225-45822226	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs574410689	chr21:45822238-45822239	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73375968	chr21:45822309-45822310	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs553737373	chr21:45822321-45822322	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs45501795	chr21:45822326-45822327	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs45459791	chr21:45822333-45822334	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs45471793	chr21:45822341-45822342	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535826504	chr21:45822357-45822358	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs576743815	chr21:45822369-45822370	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs184805274	chr21:45822370-45822371	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs373616208	chr21:45822371-45822372	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs373745570	chr21:45822386-45822387	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs558182623	chr21:45822433-45822434	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547735138	chr21:45822451-45822452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559740088	chr21:45822547-45822548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533172664	chr21:45822552-45822553	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs578101737	chr21:45822590-45822591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs45583634	chr21:45822591-45822592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1011557	chr21:45822606-45822607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537116545	chr21:45822618-45822619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76962290	chr21:45822655-45822656	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540139221	chr21:45822670-45822671	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs45487098	chr21:45822678-45822679	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535399052	chr21:45822714-45822715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138616682	chr21:45822741-45822742	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572033929	chr21:45822746-45822747	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142702014	chr21:45822774-45822775	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557701365	chr21:45822800-45822801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs45467091	chr21:45822859-45822860	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146944270	chr21:45822870-45822871	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562278562	chr21:45822876-45822877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181055334	chr21:45822878-45822879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541759351	chr21:45822879-45822880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559775872	chr21:45822886-45822887	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533401529	chr21:45822899-45822900	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560422481	chr21:45822913-45822914	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551502763	chr21:45822914-45822915	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185992985	chr21:45822916-45822917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530917452	chr21:45822936-45822937	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191249714	chr21:45822945-45822946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs45451601	chr21:45822979-45822980	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571516722	chr21:45822996-45822997	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74670489	chr21:45823028-45823029	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547702622	chr21:45823029-45823030	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs45494296	chr21:45823062-45823063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539690201	chr21:45823084-45823085	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557472277	chr21:45823085-45823086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569630449	chr21:45823160-45823161	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537185533	chr21:45823180-45823181	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555500267	chr21:45823186-45823187	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45807200-45839400	Weak transcription	Gastric	stomach
2	chr21:45810800-45823400	Weak transcription	Brain Anterior Caudate	brain
3	chr21:45810800-45825000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr21:45811800-45825200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:45812200-45823400	Weak transcription	Primary B cells from cord blood	blood
6	chr21:45812200-45825600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr21:45814000-45833600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
10	chr21:45816600-45822800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:45816600-45849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:45817200-45823200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:45817200-45825000	Strong transcription	Spleen	Spleen
14	chr21:45817200-45847200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr21:45817400-45824000	Strong transcription	Adipose Nuclei	Adipose
16	chr21:45819200-45822400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:45819200-45828800	Weak transcription	Esophagus	oesophagus
18	chr21:45819600-45825800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45819800-45825000	Weak transcription	Lung	lung
20	chr21:45820000-45825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45820000-45863400	Weak transcription	Primary T cells from cord blood	blood
22	chr21:45820200-45823400	Weak transcription	Brain Angular Gyrus	brain
23	chr21:45821400-45823400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:45821400-45823600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:45821600-45836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:45821800-45822800	ZNF genes & repeats	Thymus	Thymus
27	chr21:45822200-45822400	Bivalent Enhancer	HepG2	liver
28	chr21:45822200-45826600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:45822800-45823400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr21:45822800-45834000	Weak transcription	Thymus	Thymus
31	chr21:45823200-45825000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr21:45823400-45823800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr21:45823400-45824200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr21:45823400-45824200	ZNF genes & repeats	Fetal Brain Male	brain
35	chr21:45823400-45824400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:45823400-45824400	Strong transcription	Primary B cells from cord blood	blood
37	chr21:45823400-45824400	Strong transcription	Brain Anterior Caudate	brain
38	chr21:45823400-45824400	ZNF genes & repeats	Fetal Kidney	kidney
39	chr21:45823400-45825400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr21:45823400-45825600	Strong transcription	Brain Angular Gyrus	brain
41	chr21:45823600-45823800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr21:45823800-45826000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:45823800-45834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr21:45824000-45825200	Weak transcription	Adipose Nuclei	Adipose
45	chr21:45824200-45824600	Weak transcription	Fetal Heart	heart
46	chr21:45824200-45847600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr21:45824400-45825600	Weak transcription	Brain Anterior Caudate	brain
48	chr21:45824400-45829000	Weak transcription	Primary B cells from cord blood	blood
49	chr21:45824800-45844800	Weak transcription	Colonic Mucosa	Colon
50	chr21:45825000-45826400	Strong transcription	Brain Inferior Temporal Lobe	brain

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