Variant report

Variant	nsv964495
Chromosome Location	chr21:40564372-40564872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40564573..40566805-chr21:40573736..40576146,2	K562	blood:
2	chr21:40553805..40558800-chr21:40559314..40564731,10	MCF-7	breast:
3	chr21:40564332..40566016-chr21:40719069..40721056,2	MCF-7	breast:
4	chr21:40564655..40567110-chr21:40569434..40571576,2	MCF-7	breast:
5	chr21:40560024..40562284-chr21:40564214..40567219,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272991	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000183527	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370727796	chr21:40564375-40564376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs577828015	chr21:40564459-40564460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs2410104	chr21:40564464-40564465	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs192820029	chr21:40564478-40564479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1046293	chr21:40564525-40564526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143707409	chr21:40564555-40564556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs529332767	chr21:40564664-40564665	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1046289	chr21:40564694-40564695	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs1046286	chr21:40564733-40564734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1046285	chr21:40564744-40564745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553304226	chr21:40564754-40564755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1046284	chr21:40564757-40564758	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531727132	chr21:40564797-40564798	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201814290	chr21:40564804-40564805	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142328475	chr21:40564805-40564806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145433936	chr21:40564806-40564807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550933793	chr21:40564807-40564808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61549921	chr21:40564809-40564810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570718409	chr21:40564834-40564835	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533185279	chr21:40564854-40564855	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35812236	chr21:40564857-40564858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs397867686	chr21:40564866-40564867	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40567800	Weak transcription	Left Ventricle	heart
2	chr21:40556200-40568600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:40556200-40568800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:40556200-40570200	Weak transcription	Stomach Mucosa	stomach
5	chr21:40556200-40570800	Weak transcription	Small Intestine	intestine
6	chr21:40556200-40571000	Weak transcription	Lung	lung
7	chr21:40556200-40571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
9	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
10	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:40556400-40566000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr21:40556400-40568400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:40556400-40568400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:40556400-40568800	Weak transcription	Psoas Muscle	Psoas
15	chr21:40556400-40571000	Weak transcription	Ovary	ovary
16	chr21:40556600-40564600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr21:40556600-40565400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr21:40556600-40565800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr21:40556600-40565800	Weak transcription	Fetal Thymus	thymus
20	chr21:40556600-40566000	Weak transcription	Fetal Brain Female	brain
21	chr21:40556600-40566400	Weak transcription	Fetal Muscle Leg	muscle
22	chr21:40556600-40566600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr21:40556600-40566800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:40556600-40567400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:40556600-40568200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:40556600-40568200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr21:40556600-40568200	Weak transcription	Brain Angular Gyrus	brain
28	chr21:40556600-40568200	Weak transcription	Brain Germinal Matrix	brain
29	chr21:40556600-40568200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:40556600-40568200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr21:40556600-40568400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr21:40556600-40568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr21:40556600-40568800	Weak transcription	Aorta	Aorta
34	chr21:40556600-40570400	Weak transcription	Colonic Mucosa	Colon
35	chr21:40556600-40571000	Weak transcription	Fetal Stomach	stomach
36	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:40556800-40565000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:40556800-40565400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr21:40556800-40565600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:40556800-40566000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr21:40556800-40566000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr21:40556800-40566200	Weak transcription	Primary B cells from cord blood	blood
43	chr21:40556800-40566200	Weak transcription	Brain Anterior Caudate	brain
44	chr21:40556800-40566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr21:40556800-40566400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr21:40556800-40567600	Weak transcription	Primary T cells from cord blood	blood
47	chr21:40556800-40567600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:40556800-40567600	Weak transcription	Fetal Brain Male	brain
49	chr21:40556800-40567600	Weak transcription	HepG2	liver
50	chr21:40556800-40567800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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