Variant report

Variant	esv1823469
Chromosome Location	chr2:40764167-40768902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40763799..40765386-chr2:40772496..40774595,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-6	chr2:40767486-40767578	NONHSAT070281

Extended variants
information (count: 203 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs116423173	chr2:40764229-40764230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561028647	chr2:40764300-40764301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189523227	chr2:40764303-40764304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370614248	chr2:40764304-40764305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546312637	chr2:40764339-40764340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2373888	chr2:40764357-40764358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs538257279	chr2:40764362-40764363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552004241	chr2:40764393-40764394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570302658	chr2:40764408-40764409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551717445	chr2:40764409-40764410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537645030	chr2:40764419-40764420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10594062	chr2:40764425-40764426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376409162	chr2:40764427-40764428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182225963	chr2:40764452-40764453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80141989	chr2:40764504-40764505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574162479	chr2:40764545-40764546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535091021	chr2:40764574-40764575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191806257	chr2:40764580-40764581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138228072	chr2:40764656-40764657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545075727	chr2:40764672-40764673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557217473	chr2:40764705-40764706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534251003	chr2:40764722-40764723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377319679	chr2:40764742-40764743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201861957	chr2:40764759-40764760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183607942	chr2:40764763-40764764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560722398	chr2:40764776-40764777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188248924	chr2:40764780-40764781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539900648	chr2:40764800-40764801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546679658	chr2:40764851-40764852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115854213	chr2:40764873-40764874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550348898	chr2:40764886-40764887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568400261	chr2:40764895-40764896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377348808	chr2:40764915-40764916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202207867	chr2:40764917-40764918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79879826	chr2:40764931-40764932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74411868	chr2:40764933-40764934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531139607	chr2:40764939-40764940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549670868	chr2:40764949-40764950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567823323	chr2:40764958-40764959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370522069	chr2:40764963-40764964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77937556	chr2:40765026-40765027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536181235	chr2:40765032-40765033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571816445	chr2:40765047-40765048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554439667	chr2:40765066-40765067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539013971	chr2:40765081-40765082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193179289	chr2:40765084-40765085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144805181	chr2:40765108-40765109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542523638	chr2:40765122-40765123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185378892	chr2:40765133-40765134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572654756	chr2:40765136-40765137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40757800-40774800	Weak transcription	Small Intestine	intestine
2	chr2:40758800-40767600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:40759600-40765400	Enhancers	Fetal Heart	heart
4	chr2:40762200-40766600	Weak transcription	Primary T cells from cord blood	blood
5	chr2:40762200-40767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:40762800-40764400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:40762800-40766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:40764000-40764200	Enhancers	Left Ventricle	heart
9	chr2:40764000-40767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:40764200-40764800	Weak transcription	Left Ventricle	heart
11	chr2:40764800-40765000	Enhancers	Left Ventricle	heart
12	chr2:40765400-40766400	Weak transcription	Fetal Heart	heart
13	chr2:40766400-40768400	Enhancers	Fetal Heart	heart
14	chr2:40766600-40767400	Enhancers	Primary T cells from cord blood	blood
15	chr2:40766800-40767800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:40767200-40767400	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:40767200-40767800	Enhancers	Fetal Intestine Small	intestine
18	chr2:40767200-40768200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:40767400-40767800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr2:40767600-40768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:40767600-40768800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:40767800-40768000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:40767800-40774200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:40768000-40768400	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr2:40768200-40770400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:40768200-40770400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:40768400-40768600	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:40768400-40770200	Weak transcription	Fetal Heart	heart
29	chr2:40768600-40771000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:40768800-40778800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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