Variant report

Variant	nsv869911
Chromosome Location	chr21:16184645-16210579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:16205656-16205889	K562	blood:	n/a	n/a
2	ATF2	chr21:16198790-16199409	GM12878	blood:	n/a	n/a
3	ATF2	chr21:16197761-16198364	GM12878	blood:	n/a	n/a
4	ATF2	chr21:16198850-16199380	GM12878	blood:	n/a	n/a
5	ATF2	chr21:16197779-16198441	GM12878	blood:	n/a	n/a
6	BATF	chr21:16197767-16198329	GM12878	blood:	n/a	chr21:16198001-16198012 chr21:16198077-16198086
7	BATF	chr21:16197767-16198293	GM12878	blood:	n/a	chr21:16198001-16198012 chr21:16198077-16198086
8	BATF	chr21:16209391-16209620	GM12878	blood:	n/a	chr21:16209518-16209529
9	BCL11A	chr21:16197819-16197922	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:16197792-16198279	GM12878	blood:	n/a	n/a
11	BCL3	chr21:16197805-16198287	GM12878	blood:	n/a	n/a
12	BCL3	chr21:16198979-16199314	GM12878	blood:	n/a	n/a
13	BHLHE40	chr21:16197824-16198345	GM12878	blood:	n/a	n/a
14	CHD1	chr21:16198008-16198258	GM12878	blood:	n/a	n/a
15	CHD2	chr21:16197839-16198312	GM12878	blood:	n/a	n/a
16	CTCF	chr21:16197840-16197990	GM12873	blood:	n/a	n/a
17	CTCF	chr21:16197880-16198030	GM12871	blood:	n/a	n/a
18	CTCF	chr21:16209455-16209633	K562	blood:	n/a	n/a
19	CUX1	chr21:16199732-16199884	GM12878	blood:	n/a	n/a
20	CUX1	chr21:16197797-16198089	GM12878	blood:	n/a	chr21:16197979-16197995
21	CUX1	chr21:16198910-16199381	GM12878	blood:	n/a	n/a
22	EBF1	chr21:16197780-16198007	GM12878	blood:	n/a	chr21:16197889-16197900
23	EBF1	chr21:16197781-16198080	GM12878	blood:	n/a	chr21:16197889-16197900
24	EBF1	chr21:16197710-16199432	GM12878	blood:	n/a	chr21:16197889-16197900
25	ELK1	chr21:16197943-16198018	GM12878	blood:	n/a	n/a
26	EP300	chr21:16197851-16198263	GM12878	blood:	n/a	n/a
27	EP300	chr21:16199171-16199252	K562	blood:	n/a	n/a
28	EP300	chr21:16197754-16198283	GM12878	blood:	n/a	n/a
29	EP300	chr21:16206056-16206149	GM12878	blood:	n/a	chr21:16206059-16206068
30	EP300	chr21:16197812-16198261	GM12878	blood:	n/a	n/a
31	ESR1	chr21:16189591-16189976	ECC-1	luminal epithelium:	n/a	n/a
32	FOS	chr21:16189792-16189902	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr21:16203229-16203331	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA1	chr21:16202699-16202999	HepG2	liver:	n/a	n/a
35	FOXA2	chr21:16202772-16203026	HepG2	liver:	n/a	n/a
36	FOXM1	chr21:16197671-16198405	GM12878	blood:	n/a	n/a
37	GATA3	chr21:16202462-16203112	MCF-7	breast:	n/a	n/a
38	GATA3	chr21:16202373-16203111	MCF-7	breast:	n/a	n/a
39	GATA3	chr21:16202615-16203065	MCF-7	breast:	n/a	n/a
40	GATA3	chr21:16202645-16203123	MCF-7	breast:	n/a	n/a
41	GATA3	chr21:16202682-16203032	T-47D	breast:	n/a	n/a
42	HDAC2	chr21:16202644-16203030	MCF-7	breast:	n/a	n/a
43	IKZF1	chr21:16197848-16198327	GM12878	blood:	n/a	n/a
44	IRF1	chr21:16198849-16198932	K562	blood:	n/a	n/a
45	IRF1	chr21:16194632-16194746	K562	blood:	n/a	n/a
46	IRF4	chr21:16197770-16198116	GM12878	blood:	n/a	n/a
47	JUN	chr21:16187602-16187800	HepG2	liver:	n/a	chr21:16187671-16187684
48	JUND	chr21:16200872-16201088	K562	blood:	n/a	n/a
49	JUND	chr21:16187661-16187700	HepG2	liver:	n/a	n/a
50	JUND	chr21:16202013-16202249	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16192306..16193989-chr21:16194456..16197345,2	K562	blood:
2	chr21:16191874..16193989-chr21:16194456..16197397,3	K562	blood:
3	chr21:16192306..16193989-chr21:16194456..16197345,2	K562	blood:
4	chr21:16191874..16193989-chr21:16194456..16197397,3	K562	blood:
5	chr21:16182601..16185145-chr21:16186728..16189405,2	K562	blood:
6	chr21:16182601..16185145-chr21:16186728..16189405,2	K562	blood:
7	chr21:16199164..16202875-chr21:16203134..16206995,5	K562	blood:
8	chr21:16206742..16208957-chr21:16210459..16212266,2	K562	blood:
9	chr21:16206742..16208957-chr21:16210459..16212266,2	K562	blood:
10	chr21:16204438..16207040-chr21:16208422..16210550,2	K562	blood:
11	chr21:16204438..16207040-chr21:16208422..16210550,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-1	chr21:16197844-16197947	NONHSAT081182
2	lnc-NRIP1-1	chr21:16195290-16196736	ENSG00000235609.1
3	lnc-AF127577.1-9	chr21:16184519-16184874	l_2171_chr21:16183738-16189246_brain
4	lnc-AF127577.1-9	chr21:16188836-16189246	l_2171_chr21:16183738-16189246_brain
5	lnc-NRIP1-1	chr21:16197844-16197945	NONHSAT081180
6	lnc-NRIP1-1	chr21:16191164-16196736	ENSG00000235609.4
7	lnc-NRIP1-4	chr21:16201475-16202310	NONHSAT081183
8	lnc-NRIP1-1	chr21:16196502-16196736	NONHSAT081182
9	lnc-AF127577.1-9	chr21:16188490-16188834	l_2171_chr21:16183738-16189246_brain
10	lnc-NRIP1-1	chr21:16197844-16197945	ENSG00000235609.1
11	lnc-NRIP1-1	chr21:16197844-16197945	ENSG00000235609.4
12	lnc-NRIP1-1	chr21:16195009-16196736	NONHSAT081180
13	lnc-NRIP1-1	chr21:16193529-16194127	ENSG00000235609.4
14	lnc-NRIP1-1	chr21:16195017-16195738	NONHSAT081181
15	lnc-NRIP1-1	chr21:16209503-16210144	ENSG00000235609.1

No data

Variant related genes	Relation type
ENSG00000235609	TF binding region
RBMX2P1	TF binding region
ENSG00000226406	chromatin interactions

Extended variants
information (count: 785 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569318472	chr21:16184680-16184681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572361329	chr21:16184696-16184697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs541023192	chr21:16184714-16184715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191564893	chr21:16184734-16184735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs145740968	chr21:16184755-16184756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554847877	chr21:16184766-16184767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs566970394	chr21:16184793-16184794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs74363474	chr21:16184828-16184829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs115781355	chr21:16184853-16184854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369972062	chr21:16184873-16184874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570489445	chr21:16186302-16186303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28684491	chr21:16186307-16186308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553119925	chr21:16186321-16186322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572855343	chr21:16186335-16186336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28434583	chr21:16186373-16186374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2822939	chr21:16186376-16186377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559777000	chr21:16187625-16187626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577408901	chr21:16187637-16187638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573192747	chr21:16187679-16187680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542289883	chr21:16187691-16187692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533870877	chr21:16187716-16187717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7282147	chr21:16187749-16187750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573209673	chr21:16187762-16187763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541821956	chr21:16187780-16187781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374665200	chr21:16187837-16187838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77707997	chr21:16187892-16187893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575758540	chr21:16187893-16187894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62219731	chr21:16187923-16187924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575555301	chr21:16187965-16187966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564709769	chr21:16187985-16187986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533549856	chr21:16188023-16188024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150964150	chr21:16188037-16188038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2822940	chr21:16188059-16188060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528893046	chr21:16188063-16188064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75057471	chr21:16188085-16188086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568510288	chr21:16188100-16188101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537592610	chr21:16188111-16188112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532375996	chr21:16188130-16188131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76594985	chr21:16188182-16188183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34770929	chr21:16188190-16188191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571139069	chr21:16188198-16188199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11701984	chr21:16188265-16188266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533722357	chr21:16188276-16188277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140753073	chr21:16188335-16188336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35886769	chr21:16188342-16188343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573811459	chr21:16188358-16188359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535843522	chr21:16188426-16188427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532656730	chr21:16188431-16188432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555523143	chr21:16188444-16188445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575700151	chr21:16188465-16188466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16186200-16186400	Enhancers	GM12878-XiMat	blood
2	chr21:16187600-16188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:16188000-16189600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:16189600-16190200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:16189600-16190600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:16190600-16191000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:16191000-16191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:16191600-16193200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:16191800-16193200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:16192400-16193000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:16192400-16193000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:16192400-16193600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:16192600-16193200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr21:16192600-16193200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr21:16197800-16198000	Enhancers	GM12878-XiMat	blood
16	chr21:16198000-16198200	Flanking Active TSS	GM12878-XiMat	blood
17	chr21:16198200-16198400	Enhancers	GM12878-XiMat	blood
18	chr21:16198400-16198600	Flanking Active TSS	GM12878-XiMat	blood
19	chr21:16198600-16199200	Enhancers	K562	blood
20	chr21:16198600-16199800	Enhancers	GM12878-XiMat	blood
21	chr21:16199200-16204600	Weak transcription	K562	blood
22	chr21:16201000-16202000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:16202800-16203200	Enhancers	HepG2	liver
24	chr21:16205000-16205600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr21:16208800-16209000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:16209000-16210000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:16209000-16210200	Enhancers	Osteobl	bone
28	chr21:16209000-16213400	Weak transcription	Pancreas	Pancrea
29	chr21:16209200-16209800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:16209200-16210400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:16209600-16209800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr21:16210400-16210800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr21:16210400-16214800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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