Variant report

Variant	esv3325660
Chromosome Location	chr21:44605783-44610081
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	chr21:44603565..44606526-chr21:44629960..44632755,2	MCF-7	breast:
3	chr21:44603031..44604624-chr21:44604889..44607099,2	MCF-7	breast:
4	chr16:85525435..85527837-chr21:44607025..44609626,2	MCF-7	breast:
5	chr21:44602074..44605807-chr21:44607173..44611012,3	MCF-7	breast:
6	chr21:44602074..44605807-chr21:44607173..44611012,3	MCF-7	breast:
7	chr21:44606064..44608919-chr21:44684304..44686950,2	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528022662	chr21:44605837-44605838	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529196232	chr21:44605857-44605858	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564384720	chr21:44605860-44605861	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532030811	chr21:44605878-44605879	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550268349	chr21:44605890-44605891	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151174761	chr21:44605899-44605900	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535887844	chr21:44605914-44605915	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548194097	chr21:44605939-44605940	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140261751	chr21:44606008-44606009	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377516595	chr21:44606039-44606040	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558740836	chr21:44606077-44606078	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185259440	chr21:44606098-44606099	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190017082	chr21:44606115-44606116	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374209224	chr21:44606123-44606124	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574905747	chr21:44606198-44606199	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11203178	chr21:44606224-44606225	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2839647	chr21:44606257-44606258	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539273784	chr21:44606275-44606276	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200765844	chr21:44606278-44606279	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572645385	chr21:44606281-44606282	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546205362	chr21:44606288-44606289	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113607069	chr21:44606391-44606392	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531800434	chr21:44606394-44606395	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7276182	chr21:44606403-44606404	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569450716	chr21:44606475-44606476	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs28578556	chr21:44606492-44606493	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13048578	chr21:44606517-44606518	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575000268	chr21:44606580-44606581	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566469501	chr21:44606646-44606647	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145042730	chr21:44606655-44606656	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115530044	chr21:44606666-44606667	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149109421	chr21:44606708-44606709	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78435681	chr21:44606719-44606720	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11909053	chr21:44606790-44606791	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568451307	chr21:44606821-44606822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146229158	chr21:44606836-44606837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553834435	chr21:44606858-44606859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147871112	chr21:44606859-44606860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2839648	chr21:44607006-44607007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs546051487	chr21:44607058-44607059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558048429	chr21:44607063-44607064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111896855	chr21:44607085-44607086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2839649	chr21:44607103-44607104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs371775563	chr21:44607125-44607126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28502758	chr21:44607139-44607140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141568267	chr21:44607182-44607183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182676667	chr21:44607184-44607185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543411045	chr21:44607254-44607255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527306016	chr21:44607257-44607258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147053767	chr21:44607264-44607265	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44599200-44614200	Weak transcription	Right Atrium	heart
2	chr21:44600000-44605800	Weak transcription	Gastric	stomach
3	chr21:44600200-44611200	Weak transcription	Primary T cells from cord blood	blood
4	chr21:44603400-44607600	Weak transcription	Fetal Brain Male	brain
5	chr21:44604600-44606200	ZNF genes & repeats	Esophagus	oesophagus
6	chr21:44604800-44606200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:44605400-44608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44605600-44605800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr21:44605600-44606000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:44605600-44606600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr21:44605600-44606800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:44605600-44607800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:44605800-44606200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:44605800-44606400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:44605800-44606400	Enhancers	Gastric	stomach
16	chr21:44605800-44606400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:44606200-44608200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:44606200-44613600	Weak transcription	Esophagus	oesophagus
19	chr21:44606400-44606600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr21:44606400-44607200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:44606400-44607200	Weak transcription	Gastric	stomach
22	chr21:44606600-44607200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:44606600-44608000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:44606800-44607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:44607000-44609200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:44607000-44609400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:44607200-44607400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr21:44607200-44607600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:44607200-44608000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr21:44607200-44608000	Enhancers	Gastric	stomach
31	chr21:44607200-44608000	Enhancers	NH-A	brain
32	chr21:44607200-44608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr21:44607200-44608200	Enhancers	HSMM	muscle
34	chr21:44607200-44608200	Enhancers	HSMMtube	muscle
35	chr21:44607200-44609200	Enhancers	Brain Germinal Matrix	brain
36	chr21:44607400-44608000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:44607400-44608200	Enhancers	Osteobl	bone
38	chr21:44607400-44613600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr21:44607600-44607800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:44607600-44607800	Enhancers	Fetal Brain Male	brain
41	chr21:44607800-44608000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:44607800-44608000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:44607800-44608000	ZNF genes & repeats	Fetal Kidney	kidney
44	chr21:44607800-44608000	Bivalent/Poised TSS	Fetal Lung	lung
45	chr21:44607800-44608000	Bivalent Enhancer	NHDF-Ad	bronchial
46	chr21:44607800-44608200	Flanking Active TSS	Fetal Brain Male	brain
47	chr21:44607800-44608200	Enhancers	Pancreas	Pancrea
48	chr21:44607800-44609200	Enhancers	Fetal Brain Female	brain
49	chr21:44607800-44609400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:44607800-44611600	Enhancers	Primary B cells from peripheral blood	blood

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