Variant report

Variant	nsv965984
Chromosome Location	chr21:44983478-44987141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:44985047-44985543	GM12878	blood:	n/a	n/a
2	BCL11A	chr21:44985063-44985593	GM12878	blood:	n/a	n/a
3	BCL11A	chr21:44985340-44985534	GM12878	blood:	n/a	n/a
4	CBX3	chr21:44985147-44985491	K562	blood:	n/a	n/a
5	CEBPB	chr21:44985002-44985512	GM12878	blood:	n/a	n/a
6	CTCF	chr21:44985950-44985988	Lung_OC	lung:	n/a	n/a
7	EBF1	chr21:44985131-44985519	GM12878	blood:	n/a	n/a
8	EBF1	chr21:44985179-44985426	GM12878	blood:	n/a	n/a
9	EP300	chr21:44985067-44985466	GM12878	blood:	n/a	n/a
10	EP300	chr21:44985066-44985537	GM12878	blood:	n/a	n/a
11	FOSL2	chr21:44985242-44985569	HepG2	liver:	n/a	n/a
12	FOSL2	chr21:44985072-44985508	HepG2	liver:	n/a	n/a
13	FOXA1	chr21:44985218-44985552	HepG2	liver:	n/a	n/a
14	FOXA2	chr21:44985272-44985577	A549	lung:	n/a	n/a
15	FOXM1	chr21:44985043-44985417	GM12878	blood:	n/a	n/a
16	GABPA	chr21:44985002-44985276	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr21:44985701-44986077	K562	blood:	n/a	n/a
18	GATA2	chr21:44984999-44985586	K562	blood:	n/a	n/a
19	HEY1	chr21:44985003-44985544	HepG2	liver:	n/a	n/a
20	HEY1	chr21:44984916-44986069	K562	blood:	n/a	n/a
21	HEY1	chr21:44984961-44985625	K562	blood:	n/a	n/a
22	HEY1	chr21:44985026-44985512	HepG2	liver:	n/a	n/a
23	IRF4	chr21:44984976-44985594	GM12878	blood:	n/a	n/a
24	IRF4	chr21:44984978-44985566	GM12878	blood:	n/a	n/a
25	JUND	chr21:44985160-44985455	HepG2	liver:	n/a	n/a
26	JUND	chr21:44985231-44985405	HepG2	liver:	n/a	n/a
27	MYC	chr21:44985089-44985240	HUVEC	blood vessel:	n/a	n/a
28	MYC	chr21:44985310-44985317	MCF-7	breast:	n/a	n/a
29	MYC	chr21:44985146-44985200	MCF-7	breast:	n/a	n/a
30	MYC	chr21:44985246-44985273	MCF-7	breast:	n/a	n/a
31	MYC	chr21:44985301-44985317	MCF-7	breast:	n/a	n/a
32	MYC	chr21:44985217-44985263	MCF-7	breast:	n/a	n/a
33	MYC	chr21:44985339-44985461	MCF-7	breast:	n/a	n/a
34	MYC	chr21:44985137-44985406	GM12878	blood:	n/a	n/a
35	MYC	chr21:44985270-44985292	MCF-7	breast:	n/a	n/a
36	MYC	chr21:44985252-44985269	MCF-7	breast:	n/a	n/a
37	MYC	chr21:44985327-44985342	MCF-7	breast:	n/a	n/a
38	NFIC	chr21:44985054-44985591	GM12878	blood:	n/a	n/a
39	NFIC	chr21:44985042-44985574	GM12878	blood:	n/a	n/a
40	PAX5	chr21:44985026-44985350	GM12878	blood:	n/a	n/a
41	PAX5	chr21:44985037-44985537	GM12878	blood:	n/a	n/a
42	PAX5	chr21:44985009-44985539	GM12878	blood:	n/a	n/a
43	PAX5	chr21:44984960-44985587	GM12878	blood:	n/a	n/a
44	PBX3	chr21:44985190-44985457	GM12878	blood:	n/a	n/a
45	PBX3	chr21:44985140-44985485	GM12878	blood:	n/a	n/a
46	POLR2A	chr21:44984902-44985459	ProgFib	skin:	n/a	n/a
47	POLR2A	chr21:44984999-44985660	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr21:44985736-44986078	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr21:44984797-44985506	GM12878	blood:	n/a	n/a
50	POLR2A	chr21:44985020-44985600	GM12891	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44985092-44985142	NB4	blood:	n/a
2	chr21:44985092-44985142	AG09319	gingival:	n/a
3	chr21:44985491-44985541	Caco-2	colon:	n/a
4	chr21:44985092-44985142	AG10803	skin:	n/a
5	chr21:44985005-44985055	HUVEC	blood vessel:	n/a
6	chr21:44985092-44985142	A549	lung:	n/a
7	chr21:44985357-44985407	MCF10A-Er-Src	breast:	n/a
8	chr21:44985491-44985541	BJ	skin:	n/a
9	chr21:44985357-44985407	HPAEpiC	pulmonary alveolar:	n/a
10	chr21:44985491-44985541	HUVEC	blood vessel:	n/a
11	chr21:44985092-44985142	BE2_C	brain:	n/a
12	chr21:44985491-44985541	A549	lung:	n/a
13	chr21:44985092-44985142	HCPEpiC	choroid plexus:	n/a
14	chr21:44985005-44985055	CMK	blood:	n/a
15	chr21:44985005-44985055	MCF-7	breast:	n/a
16	chr21:44985491-44985541	ECC-1	luminal epithelium:	n/a
17	chr21:44985005-44985055	HPAEpiC	pulmonary alveolar:	n/a
18	chr21:44985092-44985142	NHDF-neo	bronchial:	n/a
19	chr21:44985491-44985541	HRCEpiC	kidney:	n/a
20	chr21:44985005-44985055	BE2_C	brain:	n/a
21	chr21:44985491-44985541	NB4	blood:	n/a
22	chr21:44985005-44985055	NB4	blood:	n/a
23	chr21:44985005-44985055	GM12891	blood:	n/a
24	chr21:44985491-44985541	MCF-7	breast:	n/a
25	chr21:44985005-44985055	GM12878	blood:	n/a
26	chr21:44985357-44985407	GM06990	blood:	n/a
27	chr21:44985005-44985055	SK-N-MC	brain:	n/a
28	chr21:44985005-44985055	NHBE	bronchial:	n/a
29	chr21:44985092-44985142	PFSK-1	brain:	n/a
30	chr21:44985005-44985055	HAEpiC	amniotic membrane:	n/a
31	chr21:44985357-44985407	HNPCEpiC	eye:	n/a
32	chr21:44985491-44985541	GM06990	blood:	n/a
33	chr21:44985357-44985407	MCF-7	breast:	n/a
34	chr21:44985092-44985142	GM06990	blood:	n/a
35	chr21:44985491-44985541	AoSMC	blood vessel:	n/a
36	chr21:44985491-44985541	ovcar-3	ovarian:	n/a
37	chr21:44985092-44985142	HPAEpiC	pulmonary alveolar:	n/a
38	chr21:44985005-44985055	GM19239	blood:	n/a
39	chr21:44985357-44985407	NH-A	brain:	n/a
40	chr21:44985092-44985142	HCM	heart:	n/a
41	chr21:44985005-44985055	MCF10A-Er-Src	breast:	n/a
42	chr21:44985092-44985142	HepG2	liver:	n/a
43	chr21:44985005-44985055	SK-N-SH	brain:	n/a
44	chr21:44985491-44985541	HIPEpiC	eye:	n/a
45	chr21:44985092-44985142	U87	brain:	n/a
46	chr21:44985005-44985055	ProgFib	skin:	n/a
47	chr21:44985357-44985407	PANC-1	pancreas:	n/a
48	chr21:44985491-44985541	AG09319	gingival:	n/a
49	chr21:44985005-44985055	HCF	heart:	n/a
50	chr21:44985357-44985407	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
H2BFS	TF binding region
H2BFS	CpG island

Extended variants
information (count: 176 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs138778295	chr21:44983485-44983486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556809509	chr21:44983491-44983492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531699036	chr21:44983497-44983498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535034480	chr21:44983512-44983513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113512615	chr21:44983531-44983532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550589501	chr21:44983551-44983552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201920633	chr21:44983570-44983571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574945616	chr21:44983611-44983612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542363836	chr21:44983650-44983651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571252945	chr21:44983661-44983662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192800532	chr21:44983690-44983691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569040584	chr21:44983702-44983703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149379538	chr21:44983716-44983717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185250146	chr21:44983729-44983730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116681800	chr21:44983732-44983733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145733988	chr21:44983761-44983762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112330302	chr21:44983780-44983781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534056170	chr21:44983781-44983782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142985440	chr21:44983849-44983850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369905950	chr21:44983851-44983852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146147835	chr21:44983903-44983904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548332982	chr21:44983980-44983981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566315381	chr21:44984126-44984127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114196212	chr21:44984134-44984135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190118903	chr21:44984157-44984158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552249626	chr21:44984186-44984187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376236440	chr21:44984281-44984282	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570555433	chr21:44984286-44984287	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554588340	chr21:44984292-44984293	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574066920	chr21:44984324-44984325	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112730077	chr21:44984346-44984347	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556584189	chr21:44984349-44984350	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182295443	chr21:44984355-44984356	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535685202	chr21:44984376-44984377	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551818792	chr21:44984377-44984378	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141612719	chr21:44984390-44984391	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540375900	chr21:44984393-44984394	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558675338	chr21:44984394-44984395	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369557811	chr21:44984438-44984439	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544146576	chr21:44984484-44984485	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562656667	chr21:44984555-44984556	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150509792	chr21:44984575-44984576	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541737920	chr21:44984576-44984577	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35262570	chr21:44984676-44984677	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559962078	chr21:44984757-44984758	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527477920	chr21:44984844-44984845	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs4819219	chr21:44984864-44984865	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570567560	chr21:44984867-44984868	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs533983788	chr21:44984871-44984872	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531632119	chr21:44984895-44984896	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Cancer	20164919	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44980400-44998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:44982000-44984800	Weak transcription	A549	lung
3	chr21:44982600-44984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:44982800-44988200	Weak transcription	HSMM	muscle
5	chr21:44983000-44983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:44983000-44984200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:44983000-44986600	Weak transcription	Esophagus	oesophagus
8	chr21:44983000-44991800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:44983000-44993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:44983200-44984600	Weak transcription	HSMMtube	muscle
11	chr21:44983400-44984200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:44983400-44986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:44983600-44985000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:44984000-44990600	Weak transcription	Fetal Brain Female	brain
15	chr21:44984200-44985000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:44984200-44985400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr21:44984200-44985600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:44984400-44985400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr21:44984600-44985200	Strong transcription	HSMMtube	muscle
20	chr21:44984800-44985000	Enhancers	Adipose Nuclei	Adipose
21	chr21:44984800-44985000	ZNF genes & repeats	A549	lung
22	chr21:44985000-44985200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:44985000-44986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:44985000-44991200	Weak transcription	Adipose Nuclei	Adipose
25	chr21:44985200-44986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:44985200-44986600	Weak transcription	HSMMtube	muscle
27	chr21:44986200-44986600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:44986400-44987200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr21:44986600-44986800	ZNF genes & repeats	Esophagus	oesophagus
30	chr21:44986600-44987000	Active TSS	HSMMtube	muscle
31	chr21:44986600-44987200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:44987000-44987200	Active TSS	Spleen	Spleen
33	chr21:44987000-44987400	Flanking Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links