Variant report

Variant	esv3347415
Chromosome Location	chr2:233761608-233765906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233755071..233758000-chr2:233760102..233763754,5	MCF-7	breast:
2	chr2:233755320..233757977-chr2:233759184..233761690,2	K562	blood:
3	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:
4	chr2:233754168..233758647-chr2:233758964..233761620,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066248	chromatin interactions

Extended variants
information (count: 298 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567780551	chr2:233761673-233761674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9752833	chr2:233761705-233761706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544961456	chr2:233761749-233761750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565075685	chr2:233761751-233761752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530907374	chr2:233761764-233761765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544504930	chr2:233761767-233761768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377234784	chr2:233761839-233761840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561519299	chr2:233761895-233761896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114947555	chr2:233761907-233761908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547296347	chr2:233761910-233761911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144265094	chr2:233761917-233761918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4973566	chr2:233761951-233761952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs551387842	chr2:233761993-233761994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571415804	chr2:233762002-233762003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537122413	chr2:233762029-233762030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4973567	chr2:233762043-233762044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs375192041	chr2:233762099-233762100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112813227	chr2:233762144-233762145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536013163	chr2:233762168-233762169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553241345	chr2:233762194-233762195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192380465	chr2:233762195-233762196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545044840	chr2:233762221-233762222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11885360	chr2:233762225-233762226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575366172	chr2:233762238-233762239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184760616	chr2:233762274-233762275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561199993	chr2:233762310-233762311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530321486	chr2:233762332-233762333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190523332	chr2:233762342-233762343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537971189	chr2:233762351-233762352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560808408	chr2:233762379-233762380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147389247	chr2:233762380-233762381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139451834	chr2:233762409-233762410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180883151	chr2:233762440-233762441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530396785	chr2:233762441-233762442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550652219	chr2:233762445-233762446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112522280	chr2:233762454-233762455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62191781	chr2:233762457-233762458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113779835	chr2:233762498-233762499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200075425	chr2:233762503-233762504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567209332	chr2:233762571-233762572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145075895	chr2:233762585-233762586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7349454	chr2:233762587-233762588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546472822	chr2:233762610-233762611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111627129	chr2:233762624-233762625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538528422	chr2:233762627-233762628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12622812	chr2:233762629-233762630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558398228	chr2:233762631-233762632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75537837	chr2:233762645-233762646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553538300	chr2:233762745-233762746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77788624	chr2:233762747-233762748	Weak transcription Enhancers	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233749400-233766000	Weak transcription	A549	lung
2	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:233756200-233763600	Weak transcription	NHLF	lung
4	chr2:233756400-233763800	Weak transcription	Right Atrium	heart
5	chr2:233756600-233763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:233756800-233765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:233757000-233765400	Weak transcription	Pancreas	Pancrea
9	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
11	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:233757200-233763400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:233757600-233763400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:233757800-233763400	Weak transcription	Gastric	stomach
16	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:233759000-233763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:233759400-233763400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:233759400-233765800	Weak transcription	Esophagus	oesophagus
21	chr2:233759600-233762800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:233759800-233763200	Weak transcription	Liver	Liver
23	chr2:233759800-233763400	Weak transcription	Spleen	Spleen
24	chr2:233759800-233766000	Weak transcription	Colonic Mucosa	Colon
25	chr2:233759800-233766400	Weak transcription	HepG2	liver
26	chr2:233760600-233762600	Weak transcription	Fetal Brain Male	brain
27	chr2:233761000-233765800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:233761400-233761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:233761800-233763600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:233762800-233764000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:233763200-233764000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:233763200-233764200	Strong transcription	Liver	Liver
33	chr2:233763200-233766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:233763400-233763600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:233763400-233763600	Strong transcription	Fetal Intestine Small	intestine
36	chr2:233763400-233763600	Genic enhancers	Gastric	stomach
37	chr2:233763400-233763600	Enhancers	Stomach Mucosa	stomach
38	chr2:233763400-233764000	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr2:233763400-233764000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:233763400-233764200	Genic enhancers	Spleen	Spleen
41	chr2:233763600-233763800	Bivalent Enhancer	Fetal Heart	heart
42	chr2:233763600-233763800	Enhancers	Fetal Kidney	kidney
43	chr2:233763600-233763800	Active TSS	Fetal Lung	lung
44	chr2:233763600-233763800	Flanking Active TSS	Right Ventricle	heart
45	chr2:233763600-233764000	Strong transcription	Gastric	stomach
46	chr2:233763600-233764200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:233763600-233764200	Enhancers	NHLF	lung
48	chr2:233763600-233764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:233763600-233765600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:233763600-233766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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