Variant report

Variant	esv3454992
Chromosome Location	chr21:44968424-44975222
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	chr21:44967959-44968499	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr21:44974605-44974805	HepG2	liver:	n/a	n/a
5	MAFK	chr21:44974617-44974772	IMR90	lung:	n/a	n/a
6	MAFK	chr21:44974648-44974790	HepG2	liver:	n/a	n/a
7	MAFK	chr21:44974542-44974858	HepG2	liver:	n/a	n/a
8	MEF2C	chr21:44968313-44968692	GM12878	blood:	n/a	chr21:44968507-44968522
9	POLR2A	chr21:44972263-44972283	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:44975212-44975755	MCF-7	breast:	n/a	n/a
11	RUNX3	chr21:44967931-44968751	GM12878	blood:	n/a	n/a
12	STAT3	chr21:44968257-44968457	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: 163 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138029438	chr21:44968436-44968437	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149097583	chr21:44968455-44968456	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181813776	chr21:44968483-44968484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549516283	chr21:44968580-44968581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555098810	chr21:44968639-44968640	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370586808	chr21:44968672-44968673	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568235669	chr21:44968738-44968739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568722602	chr21:44968740-44968741	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184601987	chr21:44968775-44968776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564510531	chr21:44968838-44968839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1836854	chr21:44968869-44968870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189386489	chr21:44968881-44968882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375943420	chr21:44968889-44968890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180705111	chr21:44968891-44968892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536001567	chr21:44968965-44968966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558179513	chr21:44969064-44969065	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554470867	chr21:44969110-44969111	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572625677	chr21:44969233-44969234	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537665851	chr21:44969250-44969251	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4473482	chr21:44969302-44969303	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186096602	chr21:44969346-44969347	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191168538	chr21:44969350-44969351	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs375623860	chr21:44969403-44969404	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs540048619	chr21:44969499-44969500	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541974965	chr21:44969527-44969528	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs181564332	chr21:44969533-44969534	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544612597	chr21:44969545-44969546	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs138962869	chr21:44969551-44969552	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545742775	chr21:44969590-44969591	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186684759	chr21:44969607-44969608	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76977666	chr21:44969666-44969667	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190739071	chr21:44969668-44969669	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543817160	chr21:44969700-44969701	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183103964	chr21:44969777-44969778	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529030359	chr21:44969786-44969787	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73365870	chr21:44969791-44969792	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117437280	chr21:44969811-44969812	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs187739799	chr21:44969812-44969813	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs551725615	chr21:44969850-44969851	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191062487	chr21:44969967-44969968	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11701683	chr21:44969970-44969971	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537776831	chr21:44969979-44969980	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556075707	chr21:44969995-44969996	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115114750	chr21:44970018-44970019	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182571231	chr21:44970043-44970044	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs147462309	chr21:44970064-44970065	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564406522	chr21:44970099-44970100	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs572060327	chr21:44970105-44970106	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545502221	chr21:44970122-44970123	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138352669	chr21:44970139-44970140	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	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:25 , 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	chr21:44967800-44968600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr21:44968000-44970400	Enhancers	HSMMtube	muscle
5	chr21:44968400-44969400	Weak transcription	HSMM	muscle
6	chr21:44968600-44969600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr21:44968600-44973400	Weak transcription	Thymus	Thymus
8	chr21:44969000-44970200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:44969000-44970200	Enhancers	Fetal Lung	lung
10	chr21:44969000-44970400	Enhancers	Fetal Muscle Leg	muscle
11	chr21:44969000-44971400	Enhancers	Placenta	Placenta
12	chr21:44969400-44970000	Enhancers	Fetal Stomach	stomach
13	chr21:44969400-44970400	Enhancers	HSMM	muscle
14	chr21:44969600-44969800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:44969600-44970000	Enhancers	Fetal Muscle Trunk	muscle
16	chr21:44970400-44973200	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:44970400-44982400	Weak transcription	HSMMtube	muscle
18	chr21:44973000-44973600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:44973200-44973600	Enhancers	Fetal Muscle Leg	muscle
20	chr21:44973400-44973600	Enhancers	Thymus	Thymus
21	chr21:44973600-44973800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:44973800-44982400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:44974600-44975400	Enhancers	HepG2	liver
24	chr21:44975000-44975400	Enhancers	Spleen	Spleen
25	chr21:44975000-44975600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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