Variant report

Variant	nsv962721
Chromosome Location	chr21:15407136-15431964
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	CEBPB	chr21:15422876-15422924	K562	blood:	n/a	chr21:15422880-15422893
2	CEBPB	chr21:15411432-15411591	K562	blood:	n/a	chr21:15411464-15411477 chr21:15411464-15411475 chr21:15411464-15411477 chr21:15411464-15411477
3	CHD2	chr21:15410664-15410691	GM12878	blood:	n/a	n/a
4	CTCF	chr21:15431913-15431972	LNCaP	prostate:	n/a	chr21:15431952-15431970
5	CTCF	chr21:15430385-15430503	GM13976	blood:	n/a	n/a
6	CTCF	chr21:15418680-15418830	GM12871	blood:	n/a	n/a
7	CTCF	chr21:15431863-15432018	MCF-7	breast:	n/a	chr21:15431952-15431970
8	CTCF	chr21:15431854-15432037	MCF-7	breast:	n/a	chr21:15431952-15431970
9	CTCF	chr21:15431909-15431934	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr21:15431854-15432028	MCF-7	breast:	n/a	chr21:15431952-15431970
11	CTCF	chr21:15431858-15432007	MCF-7	breast:	n/a	chr21:15431952-15431970
12	CTCF	chr21:15431847-15432024	MCF-7	breast:	n/a	chr21:15431952-15431970
13	CUX1	chr21:15412642-15412807	GM12878	blood:	n/a	n/a
14	EBF1	chr21:15410036-15410070	GM12878	blood:	n/a	n/a
15	ELK1	chr21:15412052-15412066	GM12878	blood:	n/a	n/a
16	FOS	chr21:15430183-15430472	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr21:15430132-15430472	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr21:15430006-15430398	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr21:15430131-15430482	HepG2	liver:	n/a	n/a
20	IRF3	chr21:15420900-15421011	GM12878	blood:	n/a	n/a
21	JUND	chr21:15430201-15430406	SK-N-SH	brain:	n/a	n/a
22	MAFF	chr21:15407546-15407832	HepG2	liver:	n/a	chr21:15407673-15407691
23	MAFK	chr21:15407650-15407731	HepG2	liver:	n/a	chr21:15407679-15407690 chr21:15407679-15407690 chr21:15407678-15407689 chr21:15407674-15407689 chr21:15407678-15407689 chr21:15407677-15407691 chr21:15407674-15407690
24	MAFK	chr21:15420864-15421006	K562	blood:	n/a	n/a
25	MAFK	chr21:15407545-15407857	HepG2	liver:	n/a	chr21:15407679-15407690 chr21:15407679-15407690 chr21:15407678-15407689 chr21:15407674-15407689 chr21:15407678-15407689 chr21:15407677-15407691 chr21:15407674-15407690
26	MAFK	chr21:15430295-15430329	Hela-S3	cervix:	n/a	n/a
27	MAFK	chr21:15407540-15407845	IMR90	lung:	n/a	chr21:15407679-15407690 chr21:15407679-15407690 chr21:15407678-15407689 chr21:15407674-15407689 chr21:15407678-15407689 chr21:15407677-15407691 chr21:15407674-15407690
28	MAFK	chr21:15430241-15430402	HepG2	liver:	n/a	n/a
29	MAX	chr21:15430248-15430457	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr21:15427232-15427240	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr21:15430276-15430444	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr21:15412858-15412866	GM12878	blood:	n/a	n/a
33	MXI1	chr21:15419447-15419638	HepG2	liver:	n/a	n/a
34	MYC	chr21:15430299-15430472	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr21:15431504-15431644	MCF-7	breast:	n/a	n/a
36	POLR2A	chr21:15431452-15431640	MCF-7	breast:	n/a	n/a
37	POLR2A	chr21:15424065-15424079	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr21:15414422-15414578	ProgFib	skin:	n/a	n/a
39	POLR2A	chr21:15413916-15414006	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr21:15430175-15430422	U87	brain:	n/a	n/a
41	POLR2A	chr21:15430670-15431087	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr21:15430431-15430549	Gliobla	brain:	n/a	n/a
43	POLR2A	chr21:15427256-15427433	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr21:15412238-15412427	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr21:15431485-15431587	MCF-7	breast:	n/a	n/a
46	RCOR1	chr21:15430279-15430414	Hela-S3	cervix:	n/a	n/a
47	REST	chr21:15430156-15430402	SK-N-SH	brain:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
48	REST	chr21:15430135-15430339	Hela-S3	cervix:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
49	REST	chr21:15430083-15430382	SK-N-SH	brain:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
50	REST	chr21:15430139-15430347	Hela-S3	cervix:	n/a	chr21:15430251-15430271 chr21:15430251-15430265

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15407784..15410293-chr21:15412366..15414053,2	MCF-7	breast:
2	chr21:15407784..15410293-chr21:15412366..15414053,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD20A18P	TF binding region

Extended variants
information (count: 945 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111755602	chr21:15407158-15407159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2822387	chr21:15407163-15407164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192653120	chr21:15407191-15407192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533201861	chr21:15407231-15407232	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546709881	chr21:15407247-15407248	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113810004	chr21:15407312-15407313	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184323146	chr21:15407373-15407374	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117743509	chr21:15407381-15407382	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535551820	chr21:15407397-15407398	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142428731	chr21:15407398-15407399	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113227413	chr21:15407480-15407481	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146442251	chr21:15407532-15407533	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75485214	chr21:15407534-15407535	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558472654	chr21:15407559-15407560	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112617238	chr21:15407572-15407573	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187972129	chr21:15407574-15407575	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534357743	chr21:15407621-15407622	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111288785	chr21:15407656-15407657	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192648461	chr21:15407708-15407709	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138990618	chr21:15407711-15407712	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143318822	chr21:15407714-15407715	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118083936	chr21:15407790-15407791	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200180008	chr21:15407817-15407818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74633608	chr21:15407850-15407851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184742194	chr21:15407853-15407854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113627488	chr21:15407870-15407871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544167677	chr21:15407872-15407873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74514489	chr21:15407939-15407940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533078563	chr21:15407973-15407974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540386158	chr21:15408031-15408032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2822388	chr21:15408034-15408035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150473944	chr21:15408059-15408060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188757964	chr21:15408060-15408061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568753261	chr21:15408111-15408112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372654697	chr21:15408112-15408113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531385010	chr21:15408147-15408148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551094223	chr21:15408148-15408149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138319565	chr21:15408195-15408196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78367165	chr21:15408202-15408203	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149622142	chr21:15408272-15408273	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144337709	chr21:15408333-15408334	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181446053	chr21:15408396-15408397	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552485567	chr21:15408418-15408419	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559396913	chr21:15408488-15408489	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556279114	chr21:15408523-15408524	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576354342	chr21:15408541-15408542	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139246997	chr21:15408546-15408547	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112630564	chr21:15408552-15408553	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558688863	chr21:15408585-15408586	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374950431	chr21:15408589-15408590	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15400200-15409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:15400400-15407200	Weak transcription	Fetal Lung	lung
3	chr21:15400400-15407400	Weak transcription	Thymus	Thymus
4	chr21:15400400-15411000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:15400400-15412200	Weak transcription	Fetal Thymus	thymus
6	chr21:15401000-15410800	Weak transcription	Colon Smooth Muscle	Colon
7	chr21:15401200-15408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:15401200-15412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:15401200-15412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:15401200-15414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:15401800-15407200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:15401800-15423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:15402000-15412200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:15402200-15407200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:15402600-15442400	Weak transcription	Dnd41	blood
17	chr21:15402800-15419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:15404600-15407200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:15404600-15410000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:15405400-15409200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:15405400-15415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:15407200-15407600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:15407200-15407600	Enhancers	Fetal Lung	lung
24	chr21:15407200-15407600	Enhancers	Stomach Smooth Muscle	stomach
25	chr21:15407200-15408600	Enhancers	Rectal Smooth Muscle	rectum
26	chr21:15407400-15407600	Enhancers	Thymus	Thymus
27	chr21:15407600-15407800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:15407600-15419200	Weak transcription	Fetal Lung	lung
29	chr21:15407800-15408200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:15408200-15408400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:15408400-15408600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:15408600-15409000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr21:15408600-15410600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:15408600-15410800	ZNF genes & repeats	Fetal Brain Female	brain
35	chr21:15409000-15409200	Enhancers	Rectal Smooth Muscle	rectum
36	chr21:15409200-15409400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:15409200-15410800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr21:15409400-15409800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:15409800-15410000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:15409800-15412400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr21:15409800-15414800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:15410000-15410800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:15410000-15413000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:15410600-15411600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:15410800-15411200	Enhancers	Rectal Smooth Muscle	rectum
46	chr21:15410800-15411400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:15410800-15411400	Enhancers	Colon Smooth Muscle	Colon
48	chr21:15411000-15411200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:15411200-15413400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr21:15411400-15413600	Weak transcription	Colon Smooth Muscle	Colon

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