Variant report

Variant	esv3382342
Chromosome Location	chr21:40909663-40909970
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	chr21:40901121..40903929-chr21:40907917..40910902,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558754168	chr21:40909667-40909668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572505919	chr21:40909686-40909687	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs517871	chr21:40909706-40909707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs680944	chr21:40909715-40909716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35185815	chr21:40909731-40909732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs370322365	chr21:40909744-40909745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575135438	chr21:40909807-40909808	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs681447	chr21:40909854-40909855	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564042617	chr21:40909903-40909904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531975861	chr21:40909968-40909969	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40901200-40910200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:40907000-40909800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:40908200-40910200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr21:40908200-40910400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr21:40908400-40909800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:40909000-40910400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:40909200-40909800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:40909200-40910400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr21:40909200-40910600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40909200-40910600	Enhancers	Stomach Mucosa	stomach
11	chr21:40909200-40912200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr21:40909400-40909800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr21:40909400-40910000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr21:40909400-40910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:40909600-40909800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr21:40909600-40909800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr21:40909600-40909800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:40909600-40910000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:40909600-40910000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr21:40909600-40910400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr21:40909600-40910400	Enhancers	Fetal Intestine Large	intestine
22	chr21:40909600-40910600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr21:40909600-40910800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:40909800-40910000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr21:40909800-40910400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:40909800-40910600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr21:40909800-40910600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:40909800-40910600	Enhancers	Brain Anterior Caudate	brain
29	chr21:40909800-40910800	Enhancers	H9 Cell Line	embryonic stem cell

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