Variant report

Variant	esv3406185
Chromosome Location	chr13:96673001-96676499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:96666484..96668467-chr13:96672707..96674381,2	K562	blood:
2	chr13:96672513..96673053-chr13:97619391..97620229,2	K562	blood:
3	chr13:96676019..96678407-chr13:96704479..96707236,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HS6ST3-1	chr13:96675417-96675649	expReg_chr13_3428_+

Variant related genes	Relation type
ENSG00000102595	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545929449	chr13:96673002-96673003	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536616701	chr13:96673118-96673119	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186851188	chr13:96673136-96673137	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116178176	chr13:96673151-96673152	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565097780	chr13:96673179-96673180	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192432433	chr13:96673191-96673192	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572948195	chr13:96673212-96673213	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185700205	chr13:96673248-96673249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552726916	chr13:96673269-96673270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141151431	chr13:96673301-96673302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189832840	chr13:96673346-96673347	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564393553	chr13:96673432-96673433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369192310	chr13:96673452-96673453	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543409328	chr13:96673476-96673477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564052798	chr13:96673584-96673585	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529612021	chr13:96673651-96673652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549629450	chr13:96673693-96673694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559973402	chr13:96673766-96673767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528663166	chr13:96673859-96673860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61973964	chr13:96673867-96673868	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs193106490	chr13:96673932-96673933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374261303	chr13:96673965-96673966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530538615	chr13:96673973-96673974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550301989	chr13:96674011-96674012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368033166	chr13:96674083-96674084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543982849	chr13:96674108-96674109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185361317	chr13:96674116-96674117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116740439	chr13:96674201-96674202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552814043	chr13:96674213-96674214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188469854	chr13:96674246-96674247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6492828	chr13:96674286-96674287	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558239333	chr13:96674287-96674288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150707997	chr13:96674462-96674463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181315530	chr13:96674505-96674506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529905172	chr13:96674590-96674591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557373603	chr13:96674599-96674600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574422426	chr13:96674604-96674605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184958564	chr13:96674607-96674608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138108889	chr13:96674652-96674653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560061845	chr13:96674677-96674678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551457	chr13:96674796-96674797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs11333224	chr13:96674818-96674819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374341711	chr13:96674953-96674954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528274183	chr13:96674964-96674965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545231577	chr13:96674982-96674983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188155746	chr13:96675003-96675004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530499567	chr13:96675036-96675037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7988206	chr13:96675083-96675084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566939433	chr13:96675085-96675086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532245718	chr13:96675092-96675093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96613200-96694200	Weak transcription	A549	lung
2	chr13:96622200-96677200	Weak transcription	NH-A	brain
3	chr13:96657800-96677200	Weak transcription	HSMMtube	muscle
4	chr13:96660200-96682200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr13:96660400-96678600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:96660600-96676600	Weak transcription	Osteobl	bone
7	chr13:96660800-96684800	Weak transcription	Psoas Muscle	Psoas
8	chr13:96663200-96685400	Weak transcription	HMEC	breast
9	chr13:96664000-96677200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:96664200-96677600	Weak transcription	NHDF-Ad	bronchial
11	chr13:96664200-96684800	Weak transcription	NHLF	lung
12	chr13:96668600-96679400	Weak transcription	Fetal Brain Male	brain
13	chr13:96668600-96704400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:96668800-96673600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:96668800-96685400	Weak transcription	Gastric	stomach
16	chr13:96669000-96683200	Weak transcription	Esophagus	oesophagus
17	chr13:96669000-96685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:96669000-96686200	Weak transcription	NHEK	skin
19	chr13:96669200-96686800	Weak transcription	Right Ventricle	heart
20	chr13:96669200-96694000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:96669400-96676600	Weak transcription	Aorta	Aorta
22	chr13:96669400-96677000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:96669400-96677000	Weak transcription	Brain Germinal Matrix	brain
24	chr13:96669400-96677200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:96669400-96677200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr13:96669400-96680000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr13:96669400-96685400	Weak transcription	Fetal Kidney	kidney
28	chr13:96669400-96685600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:96669400-96685600	Weak transcription	Fetal Brain Female	brain
30	chr13:96669400-96694000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:96669400-96704600	Weak transcription	Brain Anterior Caudate	brain
32	chr13:96669600-96674200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:96669600-96677400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:96669600-96686400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:96669600-96686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr13:96669600-96687000	Weak transcription	Adipose Nuclei	Adipose
37	chr13:96669800-96676800	Weak transcription	Lung	lung
38	chr13:96669800-96676800	Weak transcription	Ovary	ovary
39	chr13:96669800-96677400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:96669800-96677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:96669800-96677600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:96669800-96679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:96669800-96685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:96669800-96686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:96669800-96686400	Weak transcription	Fetal Lung	lung
46	chr13:96670400-96680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:96670400-96685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:96670800-96674200	Enhancers	Fetal Intestine Large	intestine
49	chr13:96671200-96674800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr13:96671400-96673200	Strong transcription	Hela-S3	cervix

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