Variant report

Variant	nsv960927
Chromosome Location	chr19:18808010-18837082
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18793196..18796069-chr19:18810144..18811695,2	K562	blood:
2	chr19:18810589..18812335-chr19:18824171..18827003,2	MCF-7	breast:
3	chr19:18829787..18832671-chr19:18839677..18842158,2	MCF-7	breast:
4	chr19:18818633..18820154-chr19:18823817..18825970,2	MCF-7	breast:
5	chr19:18810589..18812335-chr19:18824171..18827003,2	MCF-7	breast:
6	chr19:18810890..18813557-chr19:18875190..18876829,2	K562	blood:
7	chr19:18826396..18828124-chr19:18830116..18832306,2	MCF-7	breast:
8	chr19:18699980..18701555-chr19:18807031..18809451,2	MCF-7	breast:
9	chr19:18801461..18803955-chr19:18804712..18808133,3	K562	blood:
10	chr19:18805952..18808937-chr19:18819749..18821987,2	MCF-7	breast:
11	chr19:18805994..18808523-chr19:18815766..18818763,2	MCF-7	breast:
12	chr19:18809327..18811934-chr19:18826162..18828018,2	MCF-7	breast:
13	chr19:18809327..18811934-chr19:18826162..18828018,2	MCF-7	breast:
14	chr19:18826396..18828124-chr19:18830116..18832306,2	MCF-7	breast:
15	chr19:18789026..18790711-chr19:18810926..18813520,2	K562	blood:
16	chr19:18836550..18839278-chr19:18885925..18888717,2	K562	blood:
17	chr19:18805952..18808937-chr19:18819749..18821987,2	MCF-7	breast:
18	chr19:18777019..18779428-chr19:18809740..18812402,2	K562	blood:
19	chr19:18818633..18820154-chr19:18823817..18825970,2	MCF-7	breast:
20	chr19:18577994..18580357-chr19:18824446..18826848,2	K562	blood:
21	chr19:18817809..18819429-chr19:18870593..18873534,2	K562	blood:
22	chr19:18805994..18808523-chr19:18815766..18818763,2	MCF-7	breast:
23	chr19:18818727..18820395-chr19:18861333..18863526,2	MCF-7	breast:
24	chr19:18804590..18807206-chr19:18828882..18830470,2	MCF-7	breast:
25	chr19:18653429..18654988-chr19:18810315..18813230,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105701	chromatin interactions
ENSG00000105662	chromatin interactions
ENSG00000006015	chromatin interactions

Extended variants
information (count: 1220 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550350068	chr19:18808017-18808018	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564085997	chr19:18808038-18808039	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184161266	chr19:18808063-18808064	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552322648	chr19:18808065-18808066	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150036376	chr19:18808081-18808082	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534830192	chr19:18808125-18808126	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373097713	chr19:18808138-18808139	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530638259	chr19:18808141-18808142	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376026356	chr19:18808157-18808158	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188413852	chr19:18808168-18808169	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370398693	chr19:18808197-18808198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144323184	chr19:18808201-18808202	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180927632	chr19:18808222-18808223	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185201759	chr19:18808224-18808225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552712877	chr19:18808230-18808231	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572749519	chr19:18808239-18808240	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577581479	chr19:18808244-18808245	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148801380	chr19:18808265-18808266	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190398022	chr19:18808288-18808289	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199510386	chr19:18808326-18808327	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550405521	chr19:18808340-18808341	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550337609	chr19:18808358-18808359	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182218733	chr19:18808368-18808369	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10421240	chr19:18808399-18808400	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10421071	chr19:18808400-18808401	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143878933	chr19:18808411-18808412	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563872467	chr19:18808427-18808428	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540493612	chr19:18808468-18808469	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28379803	chr19:18808481-18808482	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528451672	chr19:18808518-18808519	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186931492	chr19:18808614-18808615	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191817492	chr19:18808680-18808681	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568594473	chr19:18808694-18808695	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531021837	chr19:18808704-18808705	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551234481	chr19:18808756-18808757	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146801536	chr19:18808796-18808797	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs436456	chr19:18808810-18808811	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539768790	chr19:18808811-18808812	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs419646	chr19:18808859-18808860	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559729230	chr19:18808896-18808897	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7258722	chr19:18808915-18808916	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12980791	chr19:18808954-18808955	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555066140	chr19:18808961-18808962	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111462062	chr19:18808974-18808975	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs419896	chr19:18808991-18808992	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543864324	chr19:18808995-18808996	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116669736	chr19:18809017-18809018	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201618841	chr19:18809025-18809026	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577389348	chr19:18809115-18809116	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563349164	chr19:18809116-18809117	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18795400-18809000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:18795400-18810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:18795400-18811400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:18795400-18811400	Weak transcription	NH-A	brain
5	chr19:18795600-18810000	Weak transcription	Thymus	Thymus
6	chr19:18795600-18810800	Weak transcription	Ovary	ovary
7	chr19:18795800-18808400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:18795800-18808800	Weak transcription	Spleen	Spleen
9	chr19:18795800-18809400	Weak transcription	Primary B cells from cord blood	blood
10	chr19:18795800-18809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:18795800-18809800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:18795800-18810600	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:18795800-18810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:18795800-18810800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:18795800-18811000	Weak transcription	Fetal Intestine Large	intestine
16	chr19:18795800-18811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:18795800-18811400	Weak transcription	Fetal Lung	lung
18	chr19:18795800-18811400	Weak transcription	Right Atrium	heart
19	chr19:18796000-18808600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:18796000-18809000	Weak transcription	Primary T cells from cord blood	blood
21	chr19:18796000-18809600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:18796200-18810600	Weak transcription	Brain Anterior Caudate	brain
23	chr19:18796200-18811200	Weak transcription	Fetal Brain Female	brain
24	chr19:18796600-18810800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:18797200-18810600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:18797200-18811200	Weak transcription	NHLF	lung
27	chr19:18797200-18822400	Weak transcription	HepG2	liver
28	chr19:18797600-18808200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:18797800-18809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:18798400-18810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:18798800-18809200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:18799000-18809400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:18799000-18810800	Weak transcription	Brain Germinal Matrix	brain
34	chr19:18799200-18810400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:18799200-18810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:18799600-18809600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:18803200-18809600	Weak transcription	Lung	lung
38	chr19:18803200-18811000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:18806000-18808400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:18806200-18810600	Weak transcription	Fetal Brain Male	brain
41	chr19:18806400-18809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:18806600-18810600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr19:18806800-18808800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:18806800-18810200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr19:18806800-18810400	Enhancers	Primary B cells from peripheral blood	blood
46	chr19:18807000-18808800	Enhancers	Pancreas	Pancrea
47	chr19:18807000-18808800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr19:18807000-18809600	Strong transcription	Fetal Stomach	stomach
49	chr19:18807200-18808200	Enhancers	Esophagus	oesophagus
50	chr19:18807200-18808600	Weak transcription	Fetal Intestine Small	intestine

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