Variant report

Variant	esv16348
Chromosome Location	chr2:231180932-231183261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231177190..231178996-chr2:231181299..231183714,2	K562	blood:
2	chr2:231176097..231178034-chr2:231181270..231184101,2	MCF-7	breast:
3	chr2:231182687..231184963-chr2:231663131..231665649,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372966500	chr2:231180946-231180947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577412217	chr2:231180947-231180948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544455870	chr2:231180961-231180962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4973311	chr2:231180966-231180967	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530911949	chr2:231180996-231180997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76449069	chr2:231181024-231181025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541868575	chr2:231181028-231181029	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2396744	chr2:231181082-231181083	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs527595732	chr2:231181096-231181097	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552548847	chr2:231181112-231181113	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570759111	chr2:231181264-231181265	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4973312	chr2:231181285-231181286	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs115026942	chr2:231181290-231181291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180834496	chr2:231181295-231181296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7565520	chr2:231181298-231181299	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567051986	chr2:231181302-231181303	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566567033	chr2:231181353-231181354	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371011973	chr2:231181354-231181355	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533929884	chr2:231181366-231181367	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558849859	chr2:231181389-231181390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12464193	chr2:231181428-231181429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544807178	chr2:231181530-231181531	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12464229	chr2:231181554-231181555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574479244	chr2:231181609-231181610	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74937300	chr2:231181768-231181769	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55778512	chr2:231181804-231181805	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111885336	chr2:231181848-231181849	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151153837	chr2:231181853-231181854	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199819965	chr2:231181880-231181881	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187201858	chr2:231181887-231181888	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200777716	chr2:231181888-231181889	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574796718	chr2:231181891-231181892	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561688661	chr2:231181936-231181937	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61627995	chr2:231181946-231181947	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372658531	chr2:231181979-231181980	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548321921	chr2:231181985-231181986	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190458161	chr2:231181993-231181994	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560427228	chr2:231181998-231181999	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566603764	chr2:231182000-231182001	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533965181	chr2:231182018-231182019	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181816458	chr2:231182019-231182020	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572934343	chr2:231182098-231182099	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538109070	chr2:231182107-231182108	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556727583	chr2:231182108-231182109	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542033367	chr2:231182166-231182167	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35401153	chr2:231182167-231182168	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574976260	chr2:231182181-231182182	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186844115	chr2:231182196-231182197	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553938458	chr2:231182243-231182244	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561565392	chr2:231182246-231182247	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	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:84 , 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	chr2:231165400-231181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:231165800-231181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:231174400-231182000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:231175000-231183800	Weak transcription	HMEC	breast
7	chr2:231175400-231182000	Weak transcription	Lung	lung
8	chr2:231176000-231181000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:231177400-231182000	Strong transcription	Primary B cells from cord blood	blood
10	chr2:231177800-231181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:231177800-231182000	Weak transcription	Spleen	Spleen
12	chr2:231178800-231181600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:231178800-231182000	Weak transcription	GM12878-XiMat	blood
14	chr2:231179000-231181800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:231179800-231182400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:231180200-231182200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:231180200-231183000	Enhancers	Primary T cells from cord blood	blood
18	chr2:231180400-231181400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:231180600-231182800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:231180800-231182200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:231180800-231182600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:231180800-231182600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:231180800-231183600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:231181000-231182600	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr2:231181000-231183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:231181400-231181800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:231181600-231183200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:231181600-231183200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:231181800-231182600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:231181800-231182600	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr2:231181800-231183400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:231182000-231182200	Enhancers	Right Atrium	heart
33	chr2:231182000-231182400	Genic enhancers	Primary B cells from cord blood	blood
34	chr2:231182000-231182400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:231182000-231182400	Enhancers	Lung	lung
36	chr2:231182000-231182400	Enhancers	Spleen	Spleen
37	chr2:231182000-231182800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:231182000-231183000	Enhancers	GM12878-XiMat	blood
39	chr2:231182000-231183400	Enhancers	Thymus	Thymus
40	chr2:231182000-231184400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:231182200-231182400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr2:231182200-231182600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:231182200-231183200	Enhancers	Dnd41	blood
44	chr2:231182200-231183800	Weak transcription	Right Atrium	heart
45	chr2:231182200-231185200	Enhancers	Fetal Thymus	thymus
46	chr2:231182400-231182600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:231182400-231182600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:231182400-231182600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:231182400-231183200	Enhancers	Primary B cells from cord blood	blood
50	chr2:231182400-231183400	Enhancers	Monocytes-CD14+_RO01746	blood

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