Variant report

Variant	esv3435307
Chromosome Location	chr21:44600215-44600741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44599423..44602035-chr21:44607332..44609772,2	MCF-7	breast:
2	chr21:44595907..44598227-chr21:44599190..44600855,2	MCF-7	breast:
3	chr21:44596302..44600320-chr21:44763162..44765941,4	MCF-7	breast:
4	chr21:44590676..44595436-chr21:44598084..44601687,4	K562	blood:
5	chr21:44595975..44600241-chr21:44843202..44849395,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28971677	chr21:44600220-44600221	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28970980	chr21:44600230-44600231	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150699039	chr21:44600242-44600243	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs138392150	chr21:44600261-44600262	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs61728428	chr21:44600262-44600263	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs576933212	chr21:44600265-44600266	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs386819023	chr21:44600267-44600268	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs386819024	chr21:44600283-44600284	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs375560788	chr21:44600284-44600285	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs139498524	chr21:44600285-44600286	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs544400239	chr21:44600296-44600297	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs370448015	chr21:44600299-44600300	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs563172058	chr21:44600300-44600301	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs527552758	chr21:44600301-44600302	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs556432431	chr21:44600303-44600304	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs111167113	chr21:44600308-44600309	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs556096906	chr21:44600333-44600334	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs542389204	chr21:44600340-44600341	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs371841705	chr21:44600341-44600342	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs189455442	chr21:44600342-44600343	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs572358151	chr21:44600367-44600368	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546440970	chr21:44600371-44600372	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs180872605	chr21:44600375-44600376	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs531908513	chr21:44600383-44600384	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs549943950	chr21:44600410-44600411	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs111065056	chr21:44600413-44600414	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs368358112	chr21:44600433-44600434	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs541583184	chr21:44600434-44600435	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs529697829	chr21:44600440-44600441	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs547992263	chr21:44600454-44600455	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201961487	chr21:44600465-44600466	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs566430810	chr21:44600500-44600501	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs533577246	chr21:44600506-44600507	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs185309971	chr21:44600514-44600515	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs560222580	chr21:44600531-44600532	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs148117372	chr21:44600551-44600552	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs538183353	chr21:44600563-44600564	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs537975428	chr21:44600594-44600595	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs139003728	chr21:44600596-44600597	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs370903169	chr21:44600605-44600606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182784550	chr21:44600622-44600623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146023878	chr21:44600680-44600681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571853943	chr21:44600687-44600688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114710089	chr21:44600700-44600701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44593800-44601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:44595600-44602400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr21:44596400-44600400	Enhancers	Spleen	Spleen
4	chr21:44596600-44600800	Enhancers	Pancreas	Pancrea
5	chr21:44596600-44601600	Enhancers	HMEC	breast
6	chr21:44596800-44602400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr21:44597000-44601800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:44597200-44601400	Enhancers	Brain Germinal Matrix	brain
9	chr21:44597600-44601400	Enhancers	Fetal Brain Female	brain
10	chr21:44597600-44601600	Enhancers	Esophagus	oesophagus
11	chr21:44597800-44601400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:44598000-44600600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:44598000-44600800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr21:44598200-44600400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:44598200-44600400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:44598200-44600400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr21:44598200-44600400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:44598200-44601000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr21:44598200-44601600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr21:44598400-44600800	Enhancers	Fetal Heart	heart
21	chr21:44598400-44602800	Weak transcription	Brain Hippocampus Middle	brain
22	chr21:44598800-44601600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:44599000-44601200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr21:44599200-44603000	Weak transcription	Colonic Mucosa	Colon
25	chr21:44599200-44614200	Weak transcription	Right Atrium	heart
26	chr21:44599400-44601200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:44599800-44600600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:44599800-44601000	Weak transcription	Placenta	Placenta
29	chr21:44600000-44605800	Weak transcription	Gastric	stomach
30	chr21:44600200-44600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:44600200-44600600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr21:44600200-44600600	Enhancers	Fetal Lung	lung
33	chr21:44600200-44600600	Weak transcription	NHEK	skin
34	chr21:44600200-44611200	Weak transcription	Primary T cells from cord blood	blood
35	chr21:44600400-44600600	Weak transcription	Spleen	Spleen
36	chr21:44600600-44601200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:44600600-44601600	Enhancers	NHEK	skin
38	chr21:44600600-44603400	Enhancers	Fetal Brain Male	brain

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