Variant report

Variant	nsv10341
Chromosome Location	chr3:150921044-150924796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr3:150920857-150921088	GM12878	blood:	n/a	n/a
2	BHLHE40	chr3:150920824-150921156	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:150924150-150924354	IMR90	lung:	n/a	n/a
4	CREB1	chr3:150920813-150921177	GM12878	blood:	n/a	n/a
5	CUX1	chr3:150920976-150921059	GM12878	blood:	n/a	n/a
6	EBF1	chr3:150920928-150921122	GM12878	blood:	n/a	n/a
7	EP300	chr3:150920878-150921119	GM12878	blood:	n/a	n/a
8	EP300	chr3:150920829-150921165	GM12878	blood:	n/a	n/a
9	EP300	chr3:150921937-150921986	GM12878	blood:	n/a	n/a
10	EP300	chr3:150920843-150921180	GM12878	blood:	n/a	n/a
11	IKZF1	chr3:150920901-150921059	GM12878	blood:	n/a	n/a
12	MAFK	chr3:150921356-150921455	HepG2	liver:	n/a	n/a
13	MEF2A	chr3:150920830-150921147	GM12878	blood:	n/a	n/a
14	MXI1	chr3:150920927-150921080	GM12878	blood:	n/a	n/a
15	NFATC1	chr3:150920751-150921176	GM12878	blood:	n/a	chr3:150920842-150920855
16	NFIC	chr3:150920776-150921237	GM12878	blood:	n/a	n/a
17	RFX5	chr3:150921076-150921081	GM12878	blood:	n/a	n/a
18	RUNX3	chr3:150920725-150921262	GM12878	blood:	n/a	n/a
19	RUNX3	chr3:150920767-150921209	GM12878	blood:	n/a	n/a
20	ZNF384	chr3:150920900-150921251	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150921051-150921101	HCT-116	colon:	n/a
2	chr3:150921051-150921101	HRPEpiC	eye:	n/a
3	chr3:150921051-150921101	AG04450	lung:	fetal
4	chr3:150921051-150921101	NT2-D1	testis:	n/a
5	chr3:150921051-150921101	PANC-1	pancreas:	n/a
6	chr3:150921051-150921101	HEEpiC	esophagus:	n/a
7	chr3:150921051-150921101	AG10803	skin:	n/a
8	chr3:150921051-150921101	SK-N-MC	brain:	n/a
9	chr3:150921051-150921101	MCF-7	breast:	n/a
10	chr3:150921051-150921101	GM12891	blood:	n/a
11	chr3:150921051-150921101	GM12878	blood:	n/a
12	chr3:150921051-150921101	A549	lung:	n/a
13	chr3:150921051-150921101	ProgFib	skin:	n/a
14	chr3:150921051-150921101	MCF10A-Er-Src	breast:	n/a
15	chr3:150921051-150921101	HCF	heart:	n/a
16	chr3:150921051-150921101	SKMC	muscle:	n/a
17	chr3:150921051-150921101	ovcar-3	ovarian:	n/a
18	chr3:150921051-150921101	SAEC	small airway:	n/a
19	chr3:150921051-150921101	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:150921051-150921101	BE2_C	brain:	n/a
21	chr3:150921051-150921101	HRE	kidney:	n/a
22	chr3:150921051-150921101	AoSMC	blood vessel:	n/a
23	chr3:150921051-150921101	HCPEpiC	choroid plexus:	n/a
24	chr3:150921051-150921101	HNPCEpiC	eye:	n/a
25	chr3:150921051-150921101	PFSK-1	brain:	n/a
26	chr3:150921051-150921101	HMEC	breast:	n/a
27	chr3:150921051-150921101	NB4	blood:	n/a
28	chr3:150921051-150921101	Caco-2	colon:	n/a
29	chr3:150921051-150921101	GM06990	blood:	n/a
30	chr3:150921051-150921101	HUVEC	blood vessel:	n/a
31	chr3:150921051-150921101	HL-60	blood:	n/a
32	chr3:150921051-150921101	H1-hESC	embryonic stem cell:	embryo
33	chr3:150921051-150921101	Hela-S3	cervix:	n/a
34	chr3:150921051-150921101	HRCEpiC	kidney:	n/a
35	chr3:150921051-150921101	NHDF-neo	bronchial:	n/a
36	chr3:150921051-150921101	IMR90	lung:	fetal
37	chr3:150921051-150921101	HepG2	liver:	n/a
38	chr3:150921051-150921101	SK-N-SH	brain:	n/a
39	chr3:150921051-150921101	Hepatocyte	liver:	n/a
40	chr3:150921051-150921101	HCM	heart:	n/a
41	chr3:150921051-150921101	ECC-1	luminal epithelium:	n/a
42	chr3:150921051-150921101	RPTEC	kidney:	n/a
43	chr3:150921051-150921101	BJ	skin:	n/a
44	chr3:150921051-150921101	Jurkat	blood:	n/a
45	chr3:150921051-150921101	AG09319	gingival:	n/a
46	chr3:150921051-150921101	HEK293	kidney:	embryo
47	chr3:150921051-150921101	AG09309	skin:	n/a
48	chr3:150921051-150921101	GM12892	blood:	n/a
49	chr3:150921051-150921101	T-47D	breast:	n/a
50	chr3:150921051-150921101	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150919390..150921829-chr3:150951786..150954379,2	K562	blood:

No data

Variant related genes	Relation type
GPR171	TF binding region
GPR171	CpG island
ENSG00000266798	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527409412	chr3:150921064-150921065	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547354857	chr3:150921080-150921081	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572885148	chr3:150921089-150921090	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561232456	chr3:150921104-150921105	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35357625	chr3:150921199-150921200	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563160895	chr3:150921200-150921201	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397753967	chr3:150921210-150921211	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200163366	chr3:150921211-150921212	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528619149	chr3:150921236-150921237	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534426356	chr3:150921266-150921267	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570393144	chr3:150921294-150921295	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75317386	chr3:150921373-150921374	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576774510	chr3:150921385-150921386	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150820077	chr3:150921401-150921402	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542179989	chr3:150921438-150921439	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549811445	chr3:150921515-150921516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189958710	chr3:150921561-150921562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533147141	chr3:150921582-150921583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535285554	chr3:150921599-150921600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548251359	chr3:150921633-150921634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551413059	chr3:150921640-150921641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13090838	chr3:150921664-150921665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371860762	chr3:150921668-150921669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554131334	chr3:150921691-150921692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536911132	chr3:150921707-150921708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577170304	chr3:150921733-150921734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116051109	chr3:150921849-150921850	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs41526246	chr3:150921905-150921906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181202888	chr3:150921933-150921934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548588101	chr3:150922039-150922040	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141302001	chr3:150922048-150922049	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66725169	chr3:150922055-150922056	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185564113	chr3:150922081-150922082	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191268337	chr3:150922082-150922083	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532799887	chr3:150922235-150922236	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550017383	chr3:150922252-150922253	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372685153	chr3:150922322-150922323	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183478338	chr3:150922363-150922364	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75222965	chr3:150922488-150922489	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548754795	chr3:150922511-150922512	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565582602	chr3:150922538-150922539	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534250749	chr3:150922572-150922573	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553024836	chr3:150922614-150922615	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578145263	chr3:150922632-150922633	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1231521	chr3:150922638-150922639	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs570789542	chr3:150922658-150922659	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367640390	chr3:150922703-150922704	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188418174	chr3:150922745-150922746	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76836161	chr3:150922787-150922788	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576794109	chr3:150922920-150922921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
2	chr3:150890600-150923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:150896200-150927800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:150908800-150933200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:150911800-150928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:150917000-150931600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:150918000-150924800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:150918200-150921200	Active TSS	Primary T cells fromperipheralblood	blood
9	chr3:150918200-150921400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:150918200-150921400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:150918600-150922200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:150918800-150921200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr3:150918800-150923400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:150919600-150921200	Active TSS	Primary T cells from cord blood	blood
15	chr3:150919600-150921400	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr3:150919600-150921800	Weak transcription	HepG2	liver
17	chr3:150919800-150933400	Weak transcription	Primary B cells from cord blood	blood
18	chr3:150920200-150921200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr3:150920400-150921200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr3:150920400-150921600	Enhancers	GM12878-XiMat	blood
21	chr3:150920600-150921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:150920800-150921200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:150920800-150921400	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:150920800-150921400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr3:150921000-150921200	Flanking Active TSS	Dnd41	blood
26	chr3:150921000-150921400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:150921000-150921800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:150921000-150921800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:150921000-150922200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:150921000-150923200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:150921000-150923400	Weak transcription	Fetal Thymus	thymus
32	chr3:150921000-150924200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:150921000-150924800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:150921000-150927400	Weak transcription	Thymus	Thymus
35	chr3:150921200-150921400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:150921200-150921400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:150921200-150921800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:150921200-150922200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:150921200-150922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:150921200-150922200	Enhancers	Dnd41	blood
41	chr3:150921200-150922400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr3:150921200-150924200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr3:150921400-150921600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:150921400-150921800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:150921400-150922000	Enhancers	Primary T cells from cord blood	blood
46	chr3:150921400-150922200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:150921400-150922400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr3:150921400-150927200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:150921400-150929200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:150921600-150922200	Weak transcription	GM12878-XiMat	blood

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