Variant report

Variant	esv3355822
Chromosome Location	chr19:19367577-19370125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19365186..19369263-chr19:19370853..19375419,4	K562	blood:
2	chr19:19367557..19369074-chr19:19377378..19379497,2	K562	blood:
3	chr19:19368299..19370107-chr19:19376612..19378986,2	MCF-7	breast:
4	chr19:19365186..19370293-chr19:19370853..19374199,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCAN-2	chr19:19366316-19367760	NONHSAT063038

Variant related genes	Relation type
ENSG00000187664	chromatin interactions
ENSG00000213996	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551413409	chr19:19367638-19367639	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs115875400	chr19:19367783-19367784	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565561633	chr19:19367787-19367788	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564663902	chr19:19367809-19367810	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527451811	chr19:19367820-19367821	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182899695	chr19:19367828-19367829	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534104372	chr19:19367838-19367839	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188007566	chr19:19367839-19367840	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142410535	chr19:19367894-19367895	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151262541	chr19:19367895-19367896	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535566715	chr19:19367925-19367926	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140498173	chr19:19367952-19367953	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575209372	chr19:19367958-19367959	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150440802	chr19:19367970-19367971	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557745207	chr19:19368023-19368024	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577887844	chr19:19368080-19368081	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112494966	chr19:19368135-19368136	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540923213	chr19:19368159-19368160	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74567942	chr19:19368185-19368186	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572910479	chr19:19368196-19368197	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192283447	chr19:19368212-19368213	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs55765017	chr19:19368264-19368265	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs56144632	chr19:19368310-19368311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs531451902	chr19:19368336-19368337	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs536545021	chr19:19368370-19368371	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551369552	chr19:19368424-19368425	Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75590738	chr19:19368482-19368483	Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527550185	chr19:19368514-19368515	Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200600904	chr19:19368601-19368602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547708120	chr19:19368621-19368622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10425902	chr19:19368761-19368762	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536471857	chr19:19368814-19368815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555564097	chr19:19368895-19368896	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34387762	chr19:19368940-19368941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568975845	chr19:19368941-19368942	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374049916	chr19:19368951-19368952	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537969640	chr19:19368953-19368954	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs367547104	chr19:19368954-19368955	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146542764	chr19:19368990-19368991	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201414204	chr19:19368999-19369000	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540568083	chr19:19369010-19369011	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554477011	chr19:19369158-19369159	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184860421	chr19:19369211-19369212	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs141246392	chr19:19369250-19369251	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs145531491	chr19:19369251-19369252	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569678736	chr19:19369257-19369258	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112339374	chr19:19369269-19369270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541996838	chr19:19369279-19369280	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368786976	chr19:19369321-19369322	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545136731	chr19:19369323-19369324	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19361600-19367800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr19:19361600-19372200	Weak transcription	Brain Angular Gyrus	brain
3	chr19:19363400-19371600	Weak transcription	Brain Germinal Matrix	brain
4	chr19:19366400-19368200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:19366600-19367800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:19366600-19367800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:19366600-19368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:19366600-19368200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr19:19366800-19367600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:19366800-19367600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr19:19366800-19367600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr19:19367000-19367600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
13	chr19:19367000-19367600	Enhancers	Fetal Brain Female	brain
14	chr19:19367000-19368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:19367000-19370400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:19367200-19367600	Active TSS	Brain Anterior Caudate	brain
17	chr19:19367200-19367800	Enhancers	Fetal Brain Male	brain
18	chr19:19367200-19368000	Bivalent Enhancer	HepG2	liver
19	chr19:19367200-19368800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:19367400-19367600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:19367400-19367600	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:19367400-19367800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:19367600-19367800	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr19:19367600-19368000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:19367600-19368400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:19367600-19368400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:19367600-19370000	Strong transcription	Fetal Stomach	stomach
28	chr19:19367600-19370600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:19367600-19371600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:19367600-19371600	Weak transcription	Fetal Brain Female	brain
31	chr19:19367800-19368000	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr19:19367800-19370800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:19367800-19371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:19367800-19371800	Weak transcription	Fetal Brain Male	brain
35	chr19:19368000-19368200	Enhancers	HepG2	liver
36	chr19:19368000-19368400	Enhancers	Pancreas	Pancrea
37	chr19:19368000-19368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:19368200-19369600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:19368200-19371600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:19368400-19368600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:19368400-19370400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:19368400-19371600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:19368800-19369600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:19368800-19370400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:19369000-19369200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:19369000-19369200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:19369600-19371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:19369600-19371600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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