Variant report

Variant	esv993570
Chromosome Location	chr2:231244699-231245915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:231245774-231245824	Fibrobl	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:231235932..231237817-chr2:231243056..231245722,2	K562	blood:
2	chr2:231245270..231247001-chr2:231250596..231253585,2	K562	blood:
3	chr2:231232811..231234963-chr2:231243502..231245395,2	K562	blood:

Variant related genes	Relation type
SP140L	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567072271	chr2:231244701-231244702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534164223	chr2:231244721-231244722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559088121	chr2:231244724-231244725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182929306	chr2:231244739-231244740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527815458	chr2:231244749-231244750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148503570	chr2:231244757-231244758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79273114	chr2:231244771-231244772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574063279	chr2:231244812-231244813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67844687	chr2:231244888-231244889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35608948	chr2:231244889-231244890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398061165	chr2:231244890-231244891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533386940	chr2:231244902-231244903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541744964	chr2:231244919-231244920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6709797	chr2:231244937-231244938	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs550995013	chr2:231244980-231244981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371151108	chr2:231244986-231244987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545720843	chr2:231245006-231245007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564303695	chr2:231245019-231245020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6710190	chr2:231245025-231245026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs544675578	chr2:231245027-231245028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535762104	chr2:231245078-231245079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1820550	chr2:231245110-231245111	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs548539125	chr2:231245125-231245126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80246504	chr2:231245132-231245133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567083747	chr2:231245142-231245143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527974418	chr2:231245155-231245156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552539957	chr2:231245163-231245164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191899291	chr2:231245164-231245165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1820549	chr2:231245206-231245207	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs184091499	chr2:231245208-231245209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567795135	chr2:231245217-231245218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535115963	chr2:231245282-231245283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12694855	chr2:231245283-231245284	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs34104666	chr2:231245297-231245298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1582830	chr2:231245336-231245337	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79760619	chr2:231245352-231245353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12694856	chr2:231245365-231245366	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537051919	chr2:231245374-231245375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113202463	chr2:231245397-231245398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544738734	chr2:231245432-231245433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562998071	chr2:231245450-231245451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574968883	chr2:231245451-231245452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541897350	chr2:231245464-231245465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11679026	chr2:231245476-231245477	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs527989164	chr2:231245482-231245483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573925745	chr2:231245507-231245508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12694857	chr2:231245533-231245534	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187774029	chr2:231245550-231245551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192692263	chr2:231245595-231245596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185595732	chr2:231245602-231245603	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231212800-231253600	Weak transcription	Gastric	stomach
2	chr2:231212800-231253600	Weak transcription	HMEC	breast
3	chr2:231212800-231259200	Weak transcription	Small Intestine	intestine
4	chr2:231212800-231262400	Weak transcription	K562	blood
5	chr2:231220000-231275800	Weak transcription	Stomach Mucosa	stomach
6	chr2:231222200-231253400	Weak transcription	Colonic Mucosa	Colon
7	chr2:231222200-231273200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:231223200-231253600	Weak transcription	NHLF	lung
9	chr2:231223400-231257800	Weak transcription	NH-A	brain
10	chr2:231223600-231263600	Weak transcription	Fetal Kidney	kidney
11	chr2:231224200-231254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:231225200-231268000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:231226600-231245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:231226600-231253800	Weak transcription	Fetal Stomach	stomach
15	chr2:231226800-231249800	Weak transcription	Lung	lung
16	chr2:231226800-231253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:231226800-231253600	Weak transcription	Pancreas	Pancrea
18	chr2:231227000-231251400	Weak transcription	HSMMtube	muscle
19	chr2:231228800-231260000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:231228800-231275600	Weak transcription	Psoas Muscle	Psoas
21	chr2:231231600-231246600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:231232200-231260400	Weak transcription	Fetal Lung	lung
23	chr2:231234200-231249600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:231234200-231253600	Weak transcription	Esophagus	oesophagus
25	chr2:231234200-231274400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:231234400-231259400	Weak transcription	Fetal Intestine Small	intestine
27	chr2:231235800-231245800	Weak transcription	Spleen	Spleen
28	chr2:231236000-231251600	Weak transcription	NHDF-Ad	bronchial
29	chr2:231236800-231249400	Weak transcription	Aorta	Aorta
30	chr2:231236800-231250200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:231236800-231251600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:231236800-231260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:231237000-231245600	Weak transcription	Placenta	Placenta
34	chr2:231237000-231249200	Weak transcription	Fetal Intestine Large	intestine
35	chr2:231237000-231249800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:231237000-231249800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:231237000-231251800	Weak transcription	HUVEC	blood vessel
38	chr2:231237000-231253600	Weak transcription	GM12878-XiMat	blood
39	chr2:231237000-231264800	Weak transcription	HepG2	liver
40	chr2:231237200-231246000	Weak transcription	Thymus	Thymus
41	chr2:231237200-231249400	Weak transcription	Fetal Thymus	thymus
42	chr2:231237200-231264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:231238000-231253800	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:231238200-231245600	Weak transcription	Adipose Nuclei	Adipose
45	chr2:231238200-231249400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:231238200-231253600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:231238200-231253600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:231238200-231257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:231238400-231245800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:231238400-231246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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