Variant report

Variant	nsv584708
Chromosome Location	chr2:234701686-234708629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:234704594-234704604	MCF-7	breast:	n/a	n/a
2	MYC	chr2:234704645-234704659	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:234701225-234701849	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr2:234706654-234709179	SK-N-MC	brain:	n/a	n/a
5	RFX5	chr2:234702818-234702829	HepG2	liver:	n/a	n/a
6	USF1	chr2:234702707-234702931	HepG2	liver:	n/a	chr2:234702829-234702840
7	USF1	chr2:234702697-234702938	HepG2	liver:	n/a	chr2:234702829-234702840

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234701836..234703559-chr2:234710558..234712096,2	K562	blood:
2	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
3	2:234572898-234594986..2:234705119-234706824	GM12878	blood:
4	2:234625307-234630376..2:234706824-234710865	H1-hESC	embryonic stem cell:	embryo
5	2:234572898-234594986..2:234706824-234710865	Hela-S3	cervix:
6	chr2:234697940..234699847-chr2:234705586..234707184,2	MCF-7	breast:
7	chr2:234707954..234710332-chr2:234710792..234713677,2	MCF-7	breast:

No data

Variant related genes	Relation type
MROH2A	TF binding region
ENSG00000241119	chromatin interactions
ENSG00000241635	chromatin interactions
ENSG00000224287	chromatin interactions
ENSG00000244474	chromatin interactions
ENSG00000244122	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12622156	chr2:234701686-234701687	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567347999	chr2:234701711-234701712	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373470780	chr2:234701750-234701751	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376881159	chr2:234701755-234701756	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573039652	chr2:234701760-234701761	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545232920	chr2:234701767-234701768	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111314318	chr2:234701778-234701779	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565128406	chr2:234701812-234701813	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6755193	chr2:234701822-234701823	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34330377	chr2:234701833-234701834	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544219474	chr2:234701867-234701868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374592677	chr2:234701870-234701871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143489527	chr2:234701896-234701897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529687228	chr2:234701912-234701913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78301919	chr2:234702000-234702001	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566247300	chr2:234702001-234702002	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532529159	chr2:234702028-234702029	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76400515	chr2:234702060-234702061	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569397685	chr2:234702078-234702079	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538523394	chr2:234702126-234702127	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562177592	chr2:234702141-234702142	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568413093	chr2:234702143-234702144	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534199457	chr2:234702156-234702157	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554267022	chr2:234702181-234702182	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375954529	chr2:234702207-234702208	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535488245	chr2:234702211-234702212	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6738710	chr2:234702212-234702213	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs137898026	chr2:234702216-234702217	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28900425	chr2:234702221-234702222	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs17863808	chr2:234702227-234702228	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561050847	chr2:234702236-234702237	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538269513	chr2:234702259-234702260	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551735223	chr2:234702287-234702288	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529610939	chr2:234702321-234702322	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190909927	chr2:234702346-234702347	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559770121	chr2:234702374-234702375	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532075207	chr2:234702381-234702382	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142321197	chr2:234702384-234702385	ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199607167	chr2:234702415-234702416	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537532834	chr2:234702428-234702429	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531831808	chr2:234702430-234702431	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182906572	chr2:234702450-234702451	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1500481	chr2:234702459-234702460	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568668362	chr2:234702468-234702469	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534135503	chr2:234702484-234702485	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547806331	chr2:234702491-234702492	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570895994	chr2:234702492-234702493	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539922968	chr2:234702496-234702497	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs17868350	chr2:234702520-234702521	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575369314	chr2:234702530-234702531	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive 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
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
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234701600-234702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234701600-234703400	Enhancers	Fetal Intestine Large	intestine
3	chr2:234701800-234703200	Enhancers	Fetal Intestine Small	intestine
4	chr2:234702000-234702400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:234702000-234702400	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:234702200-234702600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:234702200-234703200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:234702200-234703400	Bivalent Enhancer	HepG2	liver
9	chr2:234702600-234704400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:234702800-234703000	ZNF genes & repeats	Spleen	Spleen
11	chr2:234703200-234703400	ZNF genes & repeats	Spleen	Spleen
12	chr2:234703400-234708400	Weak transcription	Spleen	Spleen
13	chr2:234704400-234704800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:234704600-234704800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:234705000-234705200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:234705200-234705400	Enhancers	NHEK	skin
17	chr2:234705600-234706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:234706000-234706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:234707600-234707800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:234707800-234708000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:234708000-234712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:234708400-234709000	Active TSS	Spleen	Spleen

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