Variant report

Variant	nsv587691
Chromosome Location	chr21:44963686-44975129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr21:44964108-44964401	K562	blood:	n/a	n/a
2	CBX3	chr21:44964126-44964411	K562	blood:	n/a	n/a
3	CTCF	chr21:44965257-44965309	LNCaP	prostate:	n/a	n/a
4	CTCF	chr21:44970220-44970370	GM12864	blood:	n/a	n/a
5	E2F4	chr21:44963788-44963988	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr21:44969004-44970296	SK-N-SH	brain:	n/a	n/a
7	FOS	chr21:44968071-44968411	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr21:44968072-44968265	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr21:44967959-44968499	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr21:44965178-44965360	K562	blood:	n/a	n/a
11	KAP1	chr21:44964455-44965026	HEK293	kidney:	n/a	n/a
12	KAP1	chr21:44963910-44965434	K562	blood:	n/a	n/a
13	MAFF	chr21:44974605-44974805	HepG2	liver:	n/a	n/a
14	MAFK	chr21:44974648-44974790	HepG2	liver:	n/a	n/a
15	MAFK	chr21:44974617-44974772	IMR90	lung:	n/a	n/a
16	MAFK	chr21:44974542-44974858	HepG2	liver:	n/a	n/a
17	MEF2C	chr21:44968313-44968692	GM12878	blood:	n/a	chr21:44968507-44968522
18	POLR2A	chr21:44966290-44966411	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:44972263-44972283	MCF-7	breast:	n/a	n/a
20	PRDM1	chr21:44966406-44966779	Hela-S3	cervix:	n/a	n/a
21	RUNX3	chr21:44967931-44968751	GM12878	blood:	n/a	n/a
22	SETDB1	chr21:44963934-44965355	U2OS	brain:	n/a	n/a
23	SPI1	chr21:44967385-44967592	K562	blood:	n/a	n/a
24	SPI1	chr21:44967355-44967541	GM12891	blood:	n/a	n/a
25	STAT3	chr21:44968065-44968265	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr21:44968257-44968457	MCF10A-Er-Src	breast:	n/a	n/a
27	ZNF143	chr21:44964706-44964906	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr21:44964852-44964857	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44957548..44959787-chr21:44963365..44965721,2	MCF-7	breast:
2	chr21:44934950..44937426-chr21:44968683..44970792,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
RPL31P1	TF binding region

Extended variants
information (count: 342 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141521	chr21:44963686-44963687	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189920526	chr21:44963730-44963731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533012456	chr21:44963731-44963732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542101811	chr21:44963843-44963844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545152370	chr21:44963850-44963851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181513089	chr21:44963891-44963892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530987551	chr21:44963900-44963901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549408240	chr21:44963911-44963912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34031861	chr21:44963916-44963917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567704249	chr21:44963944-44963945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528493297	chr21:44964004-44964005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547347689	chr21:44964020-44964021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571895024	chr21:44964068-44964069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538877570	chr21:44964109-44964110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557505438	chr21:44964130-44964131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7510273	chr21:44964157-44964158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199729633	chr21:44964185-44964186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560634847	chr21:44964192-44964193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185306865	chr21:44964206-44964207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536788471	chr21:44964263-44964264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555039767	chr21:44964267-44964268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573327738	chr21:44964309-44964310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540607670	chr21:44964359-44964360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527812361	chr21:44964423-44964424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564369621	chr21:44964439-44964440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573131882	chr21:44964445-44964446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553007132	chr21:44964450-44964451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577840601	chr21:44964487-44964488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190384041	chr21:44964529-44964530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553908428	chr21:44964543-44964544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs1836856	chr21:44964638-44964639	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs573785185	chr21:44964668-44964669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76166282	chr21:44964734-44964735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561348109	chr21:44964821-44964822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73223064	chr21:44964864-44964865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10446101	chr21:44964900-44964901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182015286	chr21:44964964-44964965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185026797	chr21:44965154-44965155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532797088	chr21:44965200-44965201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113593653	chr21:44965231-44965232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs57522592	chr21:44965248-44965249	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374633356	chr21:44965309-44965310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79131661	chr21:44965317-44965318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145355700	chr21:44965371-44965372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs1836855	chr21:44965414-44965415	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189828031	chr21:44965431-44965432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531761294	chr21:44965477-44965478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1436291	chr21:44965485-44965486	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148786948	chr21:44965544-44965545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538958642	chr21:44965545-44965546	Weak transcription ZNF genes & repeats	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44958400-44964400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44962800-44963800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:44962800-44963800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:44963000-44963800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:44963800-44966200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:44964400-44965600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:44965600-44967600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44966200-44966400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:44966400-44969600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:44967600-44976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:44967800-44968400	Enhancers	HSMM	muscle
12	chr21:44967800-44968600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr21:44968000-44970400	Enhancers	HSMMtube	muscle
14	chr21:44968400-44969400	Weak transcription	HSMM	muscle
15	chr21:44968600-44969600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr21:44968600-44973400	Weak transcription	Thymus	Thymus
17	chr21:44969000-44970200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:44969000-44970200	Enhancers	Fetal Lung	lung
19	chr21:44969000-44970400	Enhancers	Fetal Muscle Leg	muscle
20	chr21:44969000-44971400	Enhancers	Placenta	Placenta
21	chr21:44969400-44970000	Enhancers	Fetal Stomach	stomach
22	chr21:44969400-44970400	Enhancers	HSMM	muscle
23	chr21:44969600-44969800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr21:44969600-44970000	Enhancers	Fetal Muscle Trunk	muscle
25	chr21:44970400-44973200	Weak transcription	Fetal Muscle Leg	muscle
26	chr21:44970400-44982400	Weak transcription	HSMMtube	muscle
27	chr21:44973000-44973600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:44973200-44973600	Enhancers	Fetal Muscle Leg	muscle
29	chr21:44973400-44973600	Enhancers	Thymus	Thymus
30	chr21:44973600-44973800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:44973800-44982400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:44974600-44975400	Enhancers	HepG2	liver
33	chr21:44975000-44975400	Enhancers	Spleen	Spleen
34	chr21:44975000-44975600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links