Variant report

Variant	esv3391420
Chromosome Location	chr21:44697749-44700297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44697464..44700056-chr21:44712355..44714854,2	K562	blood:
2	chr21:44692409..44695205-chr21:44696086..44698307,2	MCF-7	breast:
3	chr21:44699112..44702350-chr21:44708742..44712038,3	K562	blood:
4	chr21:44699022..44704261-chr21:44706186..44710615,5	MCF-7	breast:
5	chr21:44696406..44698403-chr21:44725515..44727974,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373280610	chr21:44697759-44697760	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs41467447	chr21:44697940-44697941	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112848147	chr21:44698022-44698023	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532367256	chr21:44698096-44698097	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550783442	chr21:44698128-44698129	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2876834	chr21:44698173-44698174	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370750541	chr21:44698197-44698198	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111970942	chr21:44698262-44698263	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs564106230	chr21:44698365-44698366	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs111710823	chr21:44698562-44698563	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140537702	chr21:44698617-44698618	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367779380	chr21:44698629-44698630	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs59543110	chr21:44698633-44698634	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201121288	chr21:44698694-44698695	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370302730	chr21:44698750-44698751	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370241230	chr21:44698772-44698773	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116310330	chr21:44698808-44698809	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368821203	chr21:44698829-44698830	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2838233	chr21:44698955-44698956	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372737211	chr21:44698982-44698983	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56226926	chr21:44698989-44698990	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76271711	chr21:44699004-44699005	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78911167	chr21:44699030-44699031	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs2838235	chr21:44699034-44699035	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371754729	chr21:44699095-44699096	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372119961	chr21:44699104-44699105	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374970263	chr21:44699113-44699114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369091363	chr21:44699340-44699341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs376909400	chr21:44699479-44699480	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs533198434	chr21:44699685-44699686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200451123	chr21:44699800-44699801	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201754258	chr21:44699802-44699803	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201261617	chr21:44699803-44699804	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs202140601	chr21:44699838-44699839	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112579851	chr21:44699890-44699891	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113509434	chr21:44699911-44699912	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189307186	chr21:44699951-44699952	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111220579	chr21:44699974-44699975	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201221055	chr21:44699975-44699976	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566784575	chr21:44699990-44699991	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534239088	chr21:44699991-44699992	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181286370	chr21:44699996-44699997	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186521992	chr21:44700002-44700003	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs111220591	chr21:44700004-44700005	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191635103	chr21:44700019-44700020	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111220600	chr21:44700094-44700095	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182940648	chr21:44700138-44700139	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186150769	chr21:44700140-44700141	Weak transcription Active TSS	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 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44692800-44699600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr21:44693600-44698400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:44694000-44701200	Weak transcription	GM12878-XiMat	blood
4	chr21:44694200-44699200	Enhancers	Fetal Brain Male	brain
5	chr21:44694200-44699400	Enhancers	Brain Germinal Matrix	brain
6	chr21:44695200-44701000	Weak transcription	A549	lung
7	chr21:44696200-44699400	Enhancers	Fetal Brain Female	brain
8	chr21:44696600-44698200	Bivalent Enhancer	Placenta	Placenta
9	chr21:44696600-44698800	Enhancers	Fetal Lung	lung
10	chr21:44696600-44699200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44696600-44699200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr21:44696600-44699400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr21:44696600-44699800	Enhancers	Spleen	Spleen
14	chr21:44696800-44709000	Weak transcription	Gastric	stomach
15	chr21:44697000-44699600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:44697200-44698200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr21:44697200-44698400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr21:44697200-44698800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr21:44697200-44700000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:44697400-44697800	Enhancers	Left Ventricle	heart
21	chr21:44697400-44697800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr21:44697400-44697800	Enhancers	Right Atrium	heart
23	chr21:44697400-44698000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr21:44697400-44698000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr21:44697400-44698000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr21:44697400-44698000	Enhancers	Ovary	ovary
27	chr21:44697400-44698000	Enhancers	Right Ventricle	heart
28	chr21:44697400-44698000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr21:44697400-44698200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr21:44697400-44698400	Enhancers	Fetal Intestine Large	intestine
31	chr21:44697400-44698400	Enhancers	Fetal Intestine Small	intestine
32	chr21:44697400-44698400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr21:44697400-44698400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
34	chr21:44697400-44698600	Enhancers	Fetal Heart	heart
35	chr21:44697400-44699000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:44697400-44699000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr21:44697400-44699200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:44697400-44699200	Enhancers	Brain Angular Gyrus	brain
39	chr21:44697400-44699200	Enhancers	Brain Anterior Caudate	brain
40	chr21:44697400-44699200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr21:44697600-44697800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:44697600-44697800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr21:44697600-44697800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr21:44697600-44697800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr21:44697600-44697800	Enhancers	Lung	lung
46	chr21:44697600-44697800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr21:44697600-44698000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr21:44697600-44698000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:44697600-44698000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr21:44697600-44698000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain

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