Variant report

Variant	nsv963500
Chromosome Location	chr3:101481412-101496033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:101494810-101494933	K562	blood:	n/a	n/a
2	CTCF	chr3:101488218-101488282	MCF-7	breast:	n/a	n/a
3	EP300	chr3:101484113-101484434	SK-N-SH_RA	brain:	n/a	n/a
4	FOS	chr3:101481098-101481435	MCF10A-Er-Src	breast:	n/a	chr3:101481121-101481130 chr3:101481273-101481284
5	FOS	chr3:101481097-101481435	MCF10A-Er-Src	breast:	n/a	chr3:101481121-101481130 chr3:101481273-101481284
6	FOS	chr3:101481020-101481480	HUVEC	blood vessel:	n/a	chr3:101481121-101481130 chr3:101481273-101481284 chr3:101481090-101481101 chr3:101481094-101481102
7	GATA3	chr3:101484081-101484281	SH-SY5Y	brain:	n/a	n/a
8	JUN	chr3:101485056-101485088	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUN	chr3:101481120-101481437	HUVEC	blood vessel:	n/a	chr3:101481121-101481130 chr3:101481273-101481284
10	MAFF	chr3:101482922-101483001	HepG2	liver:	n/a	chr3:101482936-101482954
11	MAFK	chr3:101482891-101483039	HepG2	liver:	n/a	chr3:101482937-101482952
12	MAFK	chr3:101487573-101487724	HepG2	liver:	n/a	n/a
13	MAFK	chr3:101482905-101482951	HepG2	liver:	n/a	n/a
14	MYC	chr3:101481182-101481432	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:101481995-101482030	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:101488247-101488292	MCF-7	breast:	n/a	n/a
17	POLR2A	chr3:101492042-101492140	K562	blood:	n/a	n/a
18	POLR2A	chr3:101493890-101493985	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr3:101491106-101491259	K562	blood:	n/a	n/a
20	RUNX3	chr3:101488119-101488403	GM12878	blood:	n/a	n/a
21	RUNX3	chr3:101488094-101488369	GM12878	blood:	n/a	n/a
22	SPI1	chr3:101495916-101496104	K562	blood:	n/a	chr3:101496026-101496039 chr3:101496028-101496037
23	SPI1	chr3:101495939-101496152	GM12891	blood:	n/a	chr3:101496026-101496039 chr3:101496028-101496037
24	SPI1	chr3:101495764-101496399	HL-60	blood:	n/a	chr3:101496026-101496039 chr3:101496028-101496037
25	SPI1	chr3:101495871-101496114	GM12891	blood:	n/a	chr3:101496026-101496039 chr3:101496028-101496037
26	TCF3	chr3:101488194-101488348	GM12878	blood:	n/a	n/a
27	ZNF384	chr3:101488122-101488348	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:101485366-101485416	Jurkat	blood:	n/a
2	chr3:101493957-101494007	BE2_C	brain:	n/a
3	chr3:101493957-101494007	U87	brain:	n/a
4	chr3:101485366-101485416	HMEC	breast:	n/a
5	chr3:101485366-101485416	HRPEpiC	eye:	n/a
6	chr3:101493957-101494007	SK-N-MC	brain:	n/a
7	chr3:101493957-101494007	AG04449	skin:	fetal
8	chr3:101493957-101494007	Hepatocyte	liver:	n/a
9	chr3:101493957-101494007	HepG2	liver:	n/a
10	chr3:101485366-101485416	BJ	skin:	n/a
11	chr3:101485366-101485416	SK-N-MC	brain:	n/a
12	chr3:101493957-101494007	HNPCEpiC	eye:	n/a
13	chr3:101493957-101494007	MCF-7	breast:	n/a
14	chr3:101493957-101494007	Caco-2	colon:	n/a
15	chr3:101493957-101494007	ovcar-3	ovarian:	n/a
16	chr3:101485366-101485416	HNPCEpiC	eye:	n/a
17	chr3:101485366-101485416	U87	brain:	n/a
18	chr3:101485366-101485416	NH-A	brain:	n/a
19	chr3:101493957-101494007	RPTEC	kidney:	n/a
20	chr3:101485366-101485416	NB4	blood:	n/a
21	chr3:101493957-101494007	Jurkat	blood:	n/a
22	chr3:101485366-101485416	T-47D	breast:	n/a
23	chr3:101485366-101485416	GM12878	blood:	n/a
24	chr3:101485366-101485416	PrEC	prostate:	n/a
25	chr3:101485366-101485416	HCF	heart:	n/a
26	chr3:101485366-101485416	SK-N-SH	brain:	n/a
27	chr3:101493957-101494007	HUVEC	blood vessel:	n/a
28	chr3:101485366-101485416	NT2-D1	testis:	n/a
29	chr3:101485366-101485416	MCF-7	breast:	n/a
30	chr3:101493957-101494007	HRE	kidney:	n/a
31	chr3:101493957-101494007	CMK	blood:	n/a
32	chr3:101485366-101485416	AG04449	skin:	fetal
33	chr3:101485366-101485416	Hepatocyte	liver:	n/a
34	chr3:101485366-101485416	GM06990	blood:	n/a
35	chr3:101485366-101485416	SK-N-SH_RA	brain:	n/a
36	chr3:101485366-101485416	GM19239	blood:	n/a
37	chr3:101493957-101494007	T-47D	breast:	n/a
38	chr3:101485366-101485416	ProgFib	skin:	n/a
39	chr3:101485366-101485416	HEK293	kidney:	embryo
40	chr3:101485366-101485416	Caco-2	colon:	n/a
41	chr3:101493957-101494007	GM06990	blood:	n/a
42	chr3:101485366-101485416	GM12891	blood:	n/a
43	chr3:101493957-101494007	GM12891	blood:	n/a
44	chr3:101485366-101485416	GM12892	blood:	n/a
45	chr3:101493957-101494007	HCPEpiC	choroid plexus:	n/a
46	chr3:101493957-101494007	HMEC	breast:	n/a
47	chr3:101485366-101485416	Hela-S3	cervix:	n/a
48	chr3:101493957-101494007	PrEC	prostate:	n/a
49	chr3:101493957-101494007	HL-60	blood:	n/a
50	chr3:101493957-101494007	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:101489808..101491819-chr3:101492154..101494837,2	MCF-7	breast:
2	chr3:101482859..101484474-chr3:101486129..101487850,2	K562	blood:
3	chr3:101477002..101478820-chr3:101490149..101492423,2	MCF-7	breast:
4	chr3:101480738..101484474-chr3:101485268..101487879,3	K562	blood:
5	chr3:101484277..101486905-chr3:101489538..101492102,2	MCF-7	breast:
6	chr3:101480738..101484474-chr3:101485268..101487879,3	K562	blood:
7	chr3:101482859..101484474-chr3:101486129..101487850,2	K562	blood:
8	chr3:101489808..101491819-chr3:101492154..101494837,2	MCF-7	breast:
9	chr3:101484277..101486905-chr3:101489538..101492102,2	MCF-7	breast:
10	chr3:101405140..101408141-chr3:101480643..101483733,3	MCF-7	breast:
11	chr3:101479888..101482048-chr3:101567660..101569894,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CEP97	hsa-miR-21-5p	chr3:101484688-101484709

Variant related genes	Relation type
NXPE3	TF binding region
NXPE3	CpG island
ENSG00000114391	chromatin interactions
ENSG00000144802	chromatin interactions

Extended variants
information (count: 502 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374514101	chr3:101481418-101481419	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192202915	chr3:101481478-101481479	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578254520	chr3:101481498-101481499	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184732954	chr3:101481517-101481518	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554423497	chr3:101481534-101481535	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141821216	chr3:101481596-101481597	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72935893	chr3:101481641-101481642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554652204	chr3:101481718-101481719	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576081379	chr3:101481738-101481739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544022760	chr3:101481770-101481771	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375227756	chr3:101481778-101481779	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535134472	chr3:101481788-101481789	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377684937	chr3:101481810-101481811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545023253	chr3:101481982-101481983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560387421	chr3:101482013-101482014	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192731841	chr3:101482047-101482048	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184269239	chr3:101482134-101482135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567393986	chr3:101482154-101482155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72935894	chr3:101482167-101482168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549888273	chr3:101482204-101482205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367849613	chr3:101482212-101482213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571773366	chr3:101482235-101482236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372373841	chr3:101482244-101482245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530457540	chr3:101482245-101482246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552444419	chr3:101482267-101482268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562449526	chr3:101482310-101482311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566320209	chr3:101482358-101482359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536253546	chr3:101482375-101482376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575974464	chr3:101482402-101482403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146278288	chr3:101482431-101482432	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543540212	chr3:101482434-101482435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188378786	chr3:101482435-101482436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577801100	chr3:101482439-101482440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570859352	chr3:101482448-101482449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138159100	chr3:101482522-101482523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564919846	chr3:101482531-101482532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560193752	chr3:101482532-101482533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528762297	chr3:101482553-101482554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527557847	chr3:101482568-101482569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78646328	chr3:101482583-101482584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560902746	chr3:101482590-101482591	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs72935896	chr3:101482626-101482627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549947362	chr3:101482689-101482690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571307398	chr3:101482700-101482701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141406610	chr3:101482720-101482721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62284200	chr3:101482736-101482737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62284201	chr3:101482745-101482746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62284202	chr3:101482751-101482752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373327018	chr3:101482758-101482759	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200221586	chr3:101482759-101482760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101445600-101497400	Weak transcription	Fetal Heart	heart
2	chr3:101453800-101487000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:101464200-101486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:101472800-101488400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:101473000-101484400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:101473000-101485400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:101473000-101485400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:101473000-101486000	Strong transcription	Dnd41	blood
9	chr3:101473400-101484600	Strong transcription	Fetal Thymus	thymus
10	chr3:101473800-101484600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr3:101473800-101487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:101474000-101484400	Strong transcription	Thymus	Thymus
13	chr3:101474200-101483000	Strong transcription	Brain Germinal Matrix	brain
14	chr3:101474200-101484400	Strong transcription	Primary T cells from cord blood	blood
15	chr3:101474200-101484400	Strong transcription	Fetal Muscle Leg	muscle
16	chr3:101474400-101485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:101474800-101490600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:101475000-101483800	Weak transcription	Hela-S3	cervix
19	chr3:101475000-101486400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:101475600-101485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:101475600-101488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:101475800-101482800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:101477000-101487200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:101477200-101497400	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:101477400-101486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:101477400-101486600	Weak transcription	Esophagus	oesophagus
27	chr3:101477400-101497600	Weak transcription	Right Ventricle	heart
28	chr3:101477600-101482200	Weak transcription	GM12878-XiMat	blood
29	chr3:101477600-101482200	Weak transcription	HSMMtube	muscle
30	chr3:101477600-101483800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:101477600-101484000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:101477600-101486000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:101477600-101486000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:101477600-101488400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:101477600-101488400	Weak transcription	Spleen	Spleen
36	chr3:101477600-101497400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:101477800-101481600	Weak transcription	Osteobl	bone
38	chr3:101477800-101487800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:101478000-101482200	Weak transcription	Aorta	Aorta
40	chr3:101478000-101482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:101478000-101483600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:101478000-101483800	Weak transcription	HMEC	breast
43	chr3:101478000-101489000	Weak transcription	Gastric	stomach
44	chr3:101478000-101497400	Weak transcription	NHEK	skin
45	chr3:101478200-101482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:101478200-101482600	Weak transcription	Brain Anterior Caudate	brain
47	chr3:101478200-101482600	Weak transcription	Placenta	Placenta
48	chr3:101478200-101483600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:101478200-101484200	Weak transcription	Liver	Liver
50	chr3:101478400-101481600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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