Variant report

Variant	esv3433395
Chromosome Location	chr2:231172608-231177006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:231174552-231174828	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:231174563-231174788	IMR90	lung:	n/a	n/a
3	CEBPB	chr2:231174593-231174733	K562	blood:	n/a	n/a
4	CTCF	chr2:231175528-231175579	Medullo	brain:	n/a	n/a
5	CTCF	chr2:231176680-231176745	LNCaP	prostate:	n/a	n/a
6	CTCF	chr2:231176197-231176250	K562	blood:	n/a	n/a
7	GATA2	chr2:231173302-231173580	K562	blood:	n/a	n/a
8	MYC	chr2:231176161-231176228	K562	blood:	n/a	n/a
9	MYC	chr2:231176726-231176761	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:231175452-231175566	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:231176165-231176361	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:231176224-231176299	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:231175427-231175439	GM12878	blood:	n/a	n/a
14	STAT3	chr2:231174406-231174410	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231176097..231178034-chr2:231181270..231184101,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP140L-1	chr2:231175458-231175566	NONHSAT077277
2	lnc-SP140L-1	chr2:231175869-231176238	NONHSAT077277
3	lnc-SP140L-1	chr2:231174639-231175103	NONHSAT077275
4	lnc-SP140L-1	chr2:231174856-231174926	NONHSAT077277
5	lnc-SP110-4	chr2:231174307-231176000	NONHSAT077276

No data

Variant related genes	Relation type
SP140	TF binding region

Extended variants
information (count: 231 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2894708	chr2:231172642-231172643	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545198550	chr2:231172698-231172699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59096070	chr2:231172699-231172700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60233854	chr2:231172703-231172704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12612731	chr2:231172705-231172706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139416979	chr2:231172706-231172707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6759965	chr2:231172707-231172708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs33922249	chr2:231172708-231172709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3086612	chr2:231172709-231172710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59548048	chr2:231172731-231172732	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11901463	chr2:231172733-231172734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201923758	chr2:231172735-231172736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530658877	chr2:231172742-231172743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548744567	chr2:231172780-231172781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147709666	chr2:231172785-231172786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529334732	chr2:231172870-231172871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547791433	chr2:231172943-231172944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563218047	chr2:231172979-231172980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142644398	chr2:231172997-231172998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540144115	chr2:231173002-231173003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146900768	chr2:231173023-231173024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570358235	chr2:231173090-231173091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144589519	chr2:231173091-231173092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548575699	chr2:231173131-231173132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537672107	chr2:231173135-231173136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375613555	chr2:231173138-231173139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144909909	chr2:231173140-231173141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573698706	chr2:231173142-231173143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374181775	chr2:231173183-231173184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534395021	chr2:231173198-231173199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79199544	chr2:231173208-231173209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577526065	chr2:231173211-231173212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116335852	chr2:231173257-231173258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565273406	chr2:231173285-231173286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149026798	chr2:231173286-231173287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575176762	chr2:231173299-231173300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143011197	chr2:231173307-231173308	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs367847933	chr2:231173324-231173325	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs376686374	chr2:231173345-231173346	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373095428	chr2:231173357-231173358	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529390987	chr2:231173376-231173377	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547529994	chr2:231173377-231173378	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181555845	chr2:231173394-231173395	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs551376107	chr2:231173404-231173405	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs559787036	chr2:231173439-231173440	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533411175	chr2:231173454-231173455	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551779908	chr2:231173462-231173463	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570398737	chr2:231173471-231173472	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112985429	chr2:231173490-231173491	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111581471	chr2:231173497-231173498	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:231153800-231183400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:231161600-231173800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:231162600-231180800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:231164400-231174400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:231165200-231174200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:231165400-231180200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:231165400-231181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:231165800-231181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:231166200-231174400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:231169000-231174800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:231170000-231175400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:231170200-231175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:231171000-231174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:231171800-231174600	Weak transcription	GM12878-XiMat	blood
16	chr2:231172000-231174600	Weak transcription	Spleen	Spleen
17	chr2:231172400-231174000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:231172400-231174000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:231172400-231174400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:231172400-231180800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:231172600-231174000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:231173800-231175400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:231174000-231175400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:231174000-231175400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:231174000-231175600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:231174200-231179600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:231174400-231175000	Strong transcription	Primary B cells from cord blood	blood
28	chr2:231174400-231175000	Enhancers	HMEC	breast
29	chr2:231174400-231175400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:231174400-231182000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:231174600-231175000	Enhancers	Thymus	Thymus
32	chr2:231174600-231175000	Strong transcription	Spleen	Spleen
33	chr2:231174600-231175200	Strong transcription	GM12878-XiMat	blood
34	chr2:231174600-231175400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:231174800-231175200	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr2:231174800-231175400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:231174800-231175400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:231174800-231175400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:231174800-231175400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:231175000-231175200	Bivalent Enhancer	HepG2	liver
41	chr2:231175000-231175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:231175000-231175400	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:231175000-231177400	Weak transcription	Primary B cells from cord blood	blood
44	chr2:231175000-231177400	Weak transcription	Spleen	Spleen
45	chr2:231175000-231183800	Weak transcription	HMEC	breast
46	chr2:231175200-231175400	Enhancers	Lung	lung
47	chr2:231175200-231175600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:231175200-231177200	Weak transcription	GM12878-XiMat	blood
49	chr2:231175400-231176800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:231175400-231177200	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links