Variant report

Variant	esv3367581
Chromosome Location	chr19:18817415-18818481
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	chr19:18817809..18819429-chr19:18870593..18873534,2	K562	blood:
2	chr19:18805994..18808523-chr19:18815766..18818763,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545634600	chr19:18817426-18817427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74474391	chr19:18817450-18817451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564745752	chr19:18817494-18817495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75186747	chr19:18817642-18817643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141474753	chr19:18817648-18817649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561015927	chr19:18817660-18817661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529805212	chr19:18817697-18817698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7259216	chr19:18817728-18817729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563451567	chr19:18817766-18817767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532327270	chr19:18817770-18817771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552412017	chr19:18817788-18817789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190732320	chr19:18817871-18817872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181738324	chr19:18817892-18817893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10423674	chr19:18817903-18817904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
15	rs547383369	chr19:18818016-18818017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184379293	chr19:18818025-18818026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536303662	chr19:18818033-18818034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556481870	chr19:18818068-18818069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576187362	chr19:18818085-18818086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188903132	chr19:18818087-18818088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377462625	chr19:18818097-18818098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374711311	chr19:18818102-18818103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541071634	chr19:18818104-18818105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181355886	chr19:18818108-18818109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150941931	chr19:18818179-18818180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140716466	chr19:18818180-18818181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563352782	chr19:18818224-18818225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113528851	chr19:18818293-18818294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11670024	chr19:18818335-18818336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186428686	chr19:18818381-18818382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190922046	chr19:18818406-18818407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36035346	chr19:18818425-18818426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528357259	chr19:18818469-18818470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18797200-18822400	Weak transcription	HepG2	liver
2	chr19:18812000-18844200	Weak transcription	Fetal Kidney	kidney
3	chr19:18812200-18823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:18812400-18818600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:18812400-18818600	Weak transcription	Colon Smooth Muscle	Colon
6	chr19:18812400-18818800	Weak transcription	Fetal Stomach	stomach
7	chr19:18812400-18818800	Weak transcription	Gastric	stomach
8	chr19:18812400-18819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:18812400-18819400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:18812400-18819400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:18812400-18819600	Weak transcription	Brain Anterior Caudate	brain
12	chr19:18812400-18820000	Weak transcription	Right Ventricle	heart
13	chr19:18812400-18820400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:18812400-18821000	Weak transcription	Fetal Lung	lung
15	chr19:18812400-18821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:18812400-18821800	Weak transcription	Fetal Intestine Small	intestine
17	chr19:18812400-18824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:18812400-18824000	Weak transcription	Fetal Brain Female	brain
19	chr19:18812400-18827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:18812400-18827800	Weak transcription	Brain Germinal Matrix	brain
21	chr19:18812600-18818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:18812600-18819000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:18812600-18820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:18812600-18821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:18812600-18825800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:18812600-18828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:18813400-18820800	Weak transcription	Primary B cells from cord blood	blood
28	chr19:18813600-18819800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:18813800-18819600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr19:18815800-18818800	Weak transcription	Lung	lung
31	chr19:18817400-18817600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr19:18817400-18817800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr19:18818000-18819600	Weak transcription	Colonic Mucosa	Colon
34	chr19:18818000-18836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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