Variant report

Variant	nsv517401
Chromosome Location	chr21:45629368-45630608
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	EBF1	chr21:45630356-45630651	GM12878	blood:	n/a	chr21:45630524-45630535
2	EGR1	chr21:45629224-45629448	GM12878	blood:	n/a	chr21:45629379-45629390 chr21:45629379-45629389 chr21:45629379-45629388 chr21:45629379-45629390 chr21:45629378-45629391 chr21:45629377-45629391 chr21:45629379-45629389
3	EGR1	chr21:45629233-45629465	K562	blood:	n/a	chr21:45629379-45629390 chr21:45629379-45629389 chr21:45629379-45629388 chr21:45629379-45629390 chr21:45629378-45629391 chr21:45629377-45629391 chr21:45629379-45629389
4	EGR1	chr21:45629290-45629478	K562	blood:	n/a	chr21:45629379-45629390 chr21:45629379-45629389 chr21:45629379-45629388 chr21:45629379-45629390 chr21:45629378-45629391 chr21:45629377-45629391 chr21:45629379-45629389
5	POLR2A	chr21:45625793-45629546	PFSK-1	brain:	n/a	n/a
6	TBL1XR1	chr21:45629505-45629513	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
2	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
3	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:
4	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
5	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
6	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	TF binding region
ENSG00000232124	chromatin interactions
ENSG00000237604	chromatin interactions
ENSG00000267913	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000232010	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838526	chr21:45629368-45629369	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530724942	chr21:45629387-45629388	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs149291673	chr21:45629435-45629436	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs144566190	chr21:45629470-45629471	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs373690053	chr21:45629473-45629474	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs186028342	chr21:45629498-45629499	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs546532721	chr21:45629535-45629536	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs34521677	chr21:45629554-45629555	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs3804030	chr21:45629565-45629566	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7277916	chr21:45629593-45629594	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148479405	chr21:45629597-45629598	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs569505865	chr21:45629598-45629599	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs536832782	chr21:45629602-45629603	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs3804031	chr21:45629604-45629605	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7276055	chr21:45629619-45629620	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73228986	chr21:45629669-45629670	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs151024376	chr21:45629682-45629683	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs3804032	chr21:45629691-45629692	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537991872	chr21:45629699-45629700	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs190535100	chr21:45629716-45629717	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs575368666	chr21:45629753-45629754	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs183864085	chr21:45629767-45629768	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs187303164	chr21:45629786-45629787	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs1054839	chr21:45629792-45629793	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs568255337	chr21:45629796-45629797	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs375549525	chr21:45629803-45629804	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs35315693	chr21:45629853-45629854	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs1054841	chr21:45629854-45629855	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76542399	chr21:45629896-45629897	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs565703891	chr21:45629902-45629903	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs550723344	chr21:45629945-45629946	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs562576355	chr21:45629995-45629996	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs545821066	chr21:45630027-45630028	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs530246508	chr21:45630029-45630030	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs548723684	chr21:45630033-45630034	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs147909828	chr21:45630036-45630037	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs534558227	chr21:45630071-45630072	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141678066	chr21:45630092-45630093	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190896245	chr21:45630102-45630103	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150452671	chr21:45630106-45630107	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556252474	chr21:45630119-45630120	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs59521831	chr21:45630150-45630151	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56035046	chr21:45630151-45630152	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112901417	chr21:45630184-45630185	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs9808654	chr21:45630236-45630237	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371986898	chr21:45630240-45630241	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182697181	chr21:45630248-45630249	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576292422	chr21:45630295-45630296	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557919779	chr21:45630344-45630345	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115037784	chr21:45630386-45630387	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Prostate cancer	18632612	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 ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45622800-45629800	Enhancers	Placenta	Placenta
2	chr21:45623000-45629400	Enhancers	K562	blood
3	chr21:45623000-45629800	Enhancers	Fetal Muscle Leg	muscle
4	chr21:45625200-45629600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:45625400-45629400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr21:45625400-45630200	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:45625800-45629600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:45626000-45629400	Enhancers	Esophagus	oesophagus
9	chr21:45626600-45629800	Enhancers	HUVEC	blood vessel
10	chr21:45626800-45630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:45627000-45629800	Enhancers	Brain Hippocampus Middle	brain
12	chr21:45627200-45631000	Enhancers	Primary B cells from cord blood	blood
13	chr21:45627400-45629600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr21:45627400-45629600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:45627600-45629600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr21:45627600-45631600	Weak transcription	Gastric	stomach
17	chr21:45627800-45629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45627800-45636600	Enhancers	Primary B cells from peripheral blood	blood
19	chr21:45628000-45630600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:45628000-45631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr21:45628200-45629400	Enhancers	Brain Cingulate Gyrus	brain
22	chr21:45628400-45629400	Enhancers	Brain Angular Gyrus	brain
23	chr21:45628400-45629400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr21:45628400-45629600	Weak transcription	Thymus	Thymus
25	chr21:45628400-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:45628600-45629400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:45628600-45629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45628600-45629800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:45628600-45629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:45628600-45631400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr21:45628600-45631800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr21:45628600-45632000	Weak transcription	Primary T cells from cord blood	blood
33	chr21:45628600-45632000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr21:45628600-45632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr21:45628600-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
39	chr21:45628800-45630000	Weak transcription	Spleen	Spleen
40	chr21:45628800-45631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr21:45628800-45633400	Weak transcription	NHLF	lung
42	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:45629000-45629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:45629000-45631600	Enhancers	GM12878-XiMat	blood
45	chr21:45629000-45638200	Weak transcription	HMEC	breast
46	chr21:45629200-45635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:45629200-45637600	Weak transcription	Stomach Mucosa	stomach
48	chr21:45629400-45631800	Weak transcription	K562	blood
49	chr21:45629400-45633600	Weak transcription	Esophagus	oesophagus
50	chr21:45629600-45629800	Enhancers	Thymus	Thymus

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