Variant report

Variant	esv3366579
Chromosome Location	chr21:45516638-45516943
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	chr21:45516513..45518844-chr21:45536383..45539263,2	MCF-7	breast:
2	chr21:45515970..45519529-chr21:45533153..45535731,3	K562	blood:

Variant related genes	Relation type
ENSG00000241945	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146603774	chr21:45516640-45516641	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557338009	chr21:45516670-45516671	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9984820	chr21:45516696-45516697	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556824564	chr21:45516849-45516850	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566467507	chr21:45516856-45516857	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527353094	chr21:45516857-45516858	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552317332	chr21:45516914-45516915	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571040943	chr21:45516921-45516922	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
4	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:45498400-45524000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:45498600-45523800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr21:45499000-45523600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45499000-45524000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:45503600-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:45504200-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:45504600-45524800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr21:45505200-45524200	Strong transcription	Fetal Stomach	stomach
14	chr21:45509000-45525000	Strong transcription	Placenta	Placenta
15	chr21:45509400-45516800	Weak transcription	Fetal Brain Male	brain
16	chr21:45509600-45524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:45509800-45525000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:45510000-45524400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr21:45510000-45524800	Strong transcription	Liver	Liver
20	chr21:45510400-45524200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:45510600-45522600	Weak transcription	Stomach Mucosa	stomach
22	chr21:45510600-45524800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:45510600-45525000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr21:45510600-45525000	Strong transcription	Thymus	Thymus
25	chr21:45510800-45522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr21:45510800-45524800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:45510800-45524800	Strong transcription	Fetal Thymus	thymus
28	chr21:45511400-45525000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr21:45511600-45519400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:45511600-45524400	Strong transcription	Dnd41	blood
31	chr21:45511600-45524800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:45511600-45525000	Strong transcription	Fetal Brain Female	brain
33	chr21:45511800-45523800	Strong transcription	K562	blood
34	chr21:45511800-45524000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:45512000-45524000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45512600-45518000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr21:45513200-45519400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:45513400-45524200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr21:45513800-45519200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr21:45513800-45520600	Strong transcription	Hela-S3	cervix
41	chr21:45513800-45524400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr21:45514000-45524000	Strong transcription	Colon Smooth Muscle	Colon
43	chr21:45514000-45525800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:45514600-45516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:45514600-45524800	Strong transcription	Fetal Intestine Small	intestine
46	chr21:45514600-45524800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr21:45514600-45526600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr21:45515200-45517200	Enhancers	Brain Hippocampus Middle	brain
49	chr21:45515400-45518000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr21:45515400-45518000	Strong transcription	Primary T cells from cord blood	blood

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