Variant report

Variant	esv3329678
Chromosome Location	chr19:18908052-18913350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18906335..18910161-chr19:18910812..18915210,5	K562	blood:
2	chr19:18902716..18906331-chr19:18906905..18909967,3	K562	blood:
3	chr19:18906335..18910161-chr19:18910812..18915210,5	K562	blood:
4	chr19:18905156..18908288-chr19:18911647..18915646,4	K562	blood:
5	chr19:18905156..18908288-chr19:18911647..18915646,4	K562	blood:
6	chr19:18907924..18912216-chr19:18942228..18946300,5	MCF-7	breast:
7	chr19:18907622..18910055-chr19:18916482..18918215,2	MCF-7	breast:
8	chr19:18908432..18910835-chr19:18941570..18944244,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005007	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs113006214	chr19:18908064-18908065	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531612641	chr19:18908106-18908107	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143854493	chr19:18908118-18908119	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146306662	chr19:18908203-18908204	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139177671	chr19:18908307-18908308	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10420291	chr19:18908381-18908382	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74346119	chr19:18908436-18908437	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567539233	chr19:18908470-18908471	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10418989	chr19:18908473-18908474	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568263151	chr19:18908478-18908479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550214363	chr19:18908505-18908506	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143087631	chr19:18908506-18908507	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570281022	chr19:18908538-18908539	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144087349	chr19:18908549-18908550	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112464826	chr19:18908554-18908555	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7255939	chr19:18908598-18908599	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560250497	chr19:18908623-18908624	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61684598	chr19:18908625-18908626	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534731546	chr19:18908626-18908627	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201960054	chr19:18908629-18908630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554672013	chr19:18908630-18908631	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs398079774	chr19:18908635-18908636	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs397804954	chr19:18908636-18908637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201941599	chr19:18908637-18908638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200098994	chr19:18908640-18908641	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200916213	chr19:18908644-18908645	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574695541	chr19:18908647-18908648	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543557527	chr19:18908652-18908653	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375924028	chr19:18908697-18908698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577057283	chr19:18908776-18908777	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7257195	chr19:18908786-18908787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192547200	chr19:18908788-18908789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148662671	chr19:18908813-18908814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183001607	chr19:18908814-18908815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187578388	chr19:18908825-18908826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374958056	chr19:18908880-18908881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530232103	chr19:18908900-18908901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7256366	chr19:18908905-18908906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375955853	chr19:18908907-18908908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570290085	chr19:18908938-18908939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541456793	chr19:18908952-18908953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561677537	chr19:18908973-18908974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531241220	chr19:18908975-18908976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552878912	chr19:18909004-18909005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565695856	chr19:18909006-18909007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150799432	chr19:18909075-18909076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534558976	chr19:18909079-18909080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554709057	chr19:18909080-18909081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574583074	chr19:18909089-18909090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533329697	chr19:18909129-18909130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18902200-18915200	Weak transcription	Right Atrium	heart
2	chr19:18906200-18908800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr19:18906200-18908800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:18906200-18909600	Enhancers	Fetal Intestine Small	intestine
5	chr19:18906400-18908200	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr19:18906800-18908200	Bivalent Enhancer	HepG2	liver
7	chr19:18908200-18909400	Enhancers	HepG2	liver
8	chr19:18908200-18909600	Enhancers	Fetal Intestine Large	intestine
9	chr19:18908800-18909200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:18908800-18909200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:18909200-18909600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:18909200-18909600	Enhancers	Stomach Mucosa	stomach
13	chr19:18909200-18910000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:18909400-18909600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:18909400-18909800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:18909400-18910000	Flanking Active TSS	HepG2	liver
17	chr19:18909400-18910200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr19:18909600-18909800	Flanking Active TSS	Stomach Mucosa	stomach
19	chr19:18909600-18910200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:18909600-18910200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr19:18909600-18910200	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr19:18909600-18910200	Enhancers	Gastric	stomach
23	chr19:18909600-18910400	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr19:18909800-18910000	Bivalent Enhancer	Lung	lung
25	chr19:18909800-18910200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:18909800-18910200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:18909800-18910200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:18909800-18910200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr19:18909800-18910400	Enhancers	Stomach Mucosa	stomach
30	chr19:18910000-18910200	Enhancers	Lung	lung
31	chr19:18910000-18910400	Enhancers	HepG2	liver
32	chr19:18910000-18911600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:18910200-18910400	Enhancers	Fetal Intestine Large	intestine
34	chr19:18910200-18911600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:18910400-18910800	Enhancers	Fetal Intestine Small	intestine
36	chr19:18910800-18914600	Weak transcription	Fetal Intestine Small	intestine
37	chr19:18911400-18911600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:18911600-18911800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:18911600-18912000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr19:18911600-18912000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:18911600-18912200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:18912000-18918400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:18912200-18912600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:18912600-18913200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:18912800-18913200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:18913000-18913200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr19:18913000-18913600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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