Variant report

Variant	esv2444444
Chromosome Location	chr21:44705096-44706617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
2	chr21:44699022..44704261-chr21:44706186..44710615,5	MCF-7	breast:
3	chr21:44702803..44705781-chr21:44760517..44763058,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113694704	chr21:44705151-44705152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374914445	chr21:44705185-44705186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62218883	chr21:44705492-44705493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199620138	chr21:44705511-44705512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77788357	chr21:44705535-44705536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111472664	chr21:44705540-44705541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370451477	chr21:44705571-44705572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374952144	chr21:44705573-44705574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7276727	chr21:44705576-44705577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7282004	chr21:44705582-44705583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7276744	chr21:44705606-44705607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111939214	chr21:44705607-44705608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113472952	chr21:44705616-44705617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79171786	chr21:44705640-44705641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76186782	chr21:44705645-44705646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75709587	chr21:44705676-44705677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370723257	chr21:44705677-44705678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375453432	chr21:44705678-44705679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112706663	chr21:44705695-44705696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112430262	chr21:44705702-44705703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76129820	chr21:44705711-44705712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372782583	chr21:44705720-44705721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78633901	chr21:44705721-44705722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77439824	chr21:44705745-44705746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374841174	chr21:44705750-44705751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368921069	chr21:44705781-44705782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372411843	chr21:44705783-44705784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76218265	chr21:44705800-44705801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113928862	chr21:44705807-44705808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7277059	chr21:44705825-44705826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373719419	chr21:44705826-44705827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376696561	chr21:44705855-44705856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28677950	chr21:44705888-44705889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111605201	chr21:44705921-44705922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375234936	chr21:44705931-44705932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113297226	chr21:44705955-44705956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111525031	chr21:44705960-44705961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28474984	chr21:44705991-44705992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113071425	chr21:44705993-44705994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28711231	chr21:44706010-44706011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28607726	chr21:44706017-44706018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28482933	chr21:44706036-44706037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28450595	chr21:44706060-44706061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28564780	chr21:44706065-44706066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113406318	chr21:44706096-44706097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112331037	chr21:44706115-44706116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62218884	chr21:44706122-44706123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112673430	chr21:44706141-44706142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28696375	chr21:44706186-44706187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369989418	chr21:44706211-44706212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44696800-44709000	Weak transcription	Gastric	stomach
2	chr21:44698400-44707200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:44699400-44707200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44701600-44706000	Weak transcription	Fetal Thymus	thymus
5	chr21:44701600-44706800	Weak transcription	A549	lung
6	chr21:44702400-44706200	Weak transcription	HepG2	liver
7	chr21:44702400-44707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:44703000-44708000	Weak transcription	Brain Germinal Matrix	brain
9	chr21:44705400-44706200	Enhancers	Dnd41	blood
10	chr21:44705800-44707200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44706000-44706200	Enhancers	Pancreas	Pancrea
12	chr21:44706000-44706400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:44706000-44708800	Enhancers	Fetal Thymus	thymus
14	chr21:44706200-44706400	Enhancers	HepG2	liver
15	chr21:44706200-44707200	Weak transcription	Pancreas	Pancrea
16	chr21:44706200-44707600	Flanking Active TSS	Dnd41	blood
17	chr21:44706200-44708200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:44706400-44706800	Weak transcription	HepG2	liver
19	chr21:44706400-44707800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:44706600-44707800	Enhancers	HSMM	muscle

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