Variant report

Variant	nsv436338
Chromosome Location	chr21:44967784-44973332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:44970220-44970370	GM12864	blood:	n/a	n/a
2	EP300	chr21:44969004-44970296	SK-N-SH	brain:	n/a	n/a
3	FOS	chr21:44968072-44968265	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr21:44967959-44968499	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr21:44968071-44968411	MCF10A-Er-Src	breast:	n/a	n/a
6	MEF2C	chr21:44968313-44968692	GM12878	blood:	n/a	chr21:44968507-44968522
7	POLR2A	chr21:44972263-44972283	MCF-7	breast:	n/a	n/a
8	RUNX3	chr21:44967931-44968751	GM12878	blood:	n/a	n/a
9	STAT3	chr21:44968257-44968457	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr21:44968065-44968265	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44934950..44937426-chr21:44968683..44970792,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-5	chr21:44971110-44971481	NONHSAT082437

Variant related genes	Relation type
RPL31P1	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572602257	chr21:44967814-44967815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187805541	chr21:44967823-44967824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532979599	chr21:44967853-44967854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs957706	chr21:44967855-44967856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193011253	chr21:44967863-44967864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146685303	chr21:44967878-44967879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562564764	chr21:44967891-44967892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529726073	chr21:44967893-44967894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs957705	chr21:44967897-44967898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1436290	chr21:44967901-44967902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368593579	chr21:44967902-44967903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111938379	chr21:44967914-44967915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76276964	chr21:44967919-44967920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199507687	chr21:44967921-44967922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569454993	chr21:44967948-44967949	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548163187	chr21:44967954-44967955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs185138643	chr21:44967968-44967969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556031424	chr21:44967984-44967985	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7283618	chr21:44967994-44967995	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200516194	chr21:44968003-44968004	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200811590	chr21:44968004-44968005	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs59468517	chr21:44968005-44968006	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372665868	chr21:44968006-44968007	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537647944	chr21:44968008-44968009	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549902918	chr21:44968014-44968015	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs568175267	chr21:44968043-44968044	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535459402	chr21:44968066-44968067	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs78344901	chr21:44968069-44968070	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75799657	chr21:44968129-44968130	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376498560	chr21:44968158-44968159	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539776070	chr21:44968187-44968188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190384783	chr21:44968243-44968244	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7283117	chr21:44968302-44968303	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113510650	chr21:44968321-44968322	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150339175	chr21:44968329-44968330	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565551629	chr21:44968341-44968342	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs562575384	chr21:44968363-44968364	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574558595	chr21:44968365-44968366	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs575584698	chr21:44968381-44968382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs559927811	chr21:44968415-44968416	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527257985	chr21:44968422-44968423	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs138029438	chr21:44968436-44968437	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149097583	chr21:44968455-44968456	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs181813776	chr21:44968483-44968484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549516283	chr21:44968580-44968581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555098810	chr21:44968639-44968640	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370586808	chr21:44968672-44968673	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568235669	chr21:44968738-44968739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568722602	chr21:44968740-44968741	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184601987	chr21:44968775-44968776	Weak transcription Enhancers	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	chr21:44966400-44969600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:44967600-44976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:44967800-44968400	Enhancers	HSMM	muscle
4	chr21:44967800-44968600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:44968000-44970400	Enhancers	HSMMtube	muscle
6	chr21:44968400-44969400	Weak transcription	HSMM	muscle
7	chr21:44968600-44969600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:44968600-44973400	Weak transcription	Thymus	Thymus
9	chr21:44969000-44970200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:44969000-44970200	Enhancers	Fetal Lung	lung
11	chr21:44969000-44970400	Enhancers	Fetal Muscle Leg	muscle
12	chr21:44969000-44971400	Enhancers	Placenta	Placenta
13	chr21:44969400-44970000	Enhancers	Fetal Stomach	stomach
14	chr21:44969400-44970400	Enhancers	HSMM	muscle
15	chr21:44969600-44969800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:44969600-44970000	Enhancers	Fetal Muscle Trunk	muscle
17	chr21:44970400-44973200	Weak transcription	Fetal Muscle Leg	muscle
18	chr21:44970400-44982400	Weak transcription	HSMMtube	muscle
19	chr21:44973000-44973600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:44973200-44973600	Enhancers	Fetal Muscle Leg	muscle

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