Variant report

Variant	nsv890635
Chromosome Location	chr8:19981304-20004641
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19670534..19671042-chr8:19990928..19991891,2	MCF-7	breast:
2	chr8:19786061..19786740-chr8:19980944..19981679,3	K562	blood:
3	chr8:19991226..19991903-chr8:20233790..20234437,2	MCF-7	breast:
4	chr8:19727572..19728249-chr8:19990904..19991781,3	K562	blood:
5	chr8:19727405..19728444-chr8:19980912..19981476,3	MCF-7	breast:
6	chr8:19786443..19786979-chr8:19980934..19981886,2	MCF-7	breast:
7	chr8:19980514..19983511-chr8:19986584..19989159,2	K562	blood:
8	chr8:19229314..19230191-chr8:19990957..19991686,3	K562	blood:
9	chr8:19674771..19677183-chr8:19988400..19991254,2	K562	blood:
10	chr8:19614946..19615490-chr8:19990822..19991486,2	MCF-7	breast:
11	chr8:19980514..19983511-chr8:19986584..19989159,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147408	chromatin interactions
ENSG00000104613	chromatin interactions

Extended variants
information (count: 1194 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4922130	chr8:19981304-19981305	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536804536	chr8:19981323-19981324	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs112866409	chr8:19981347-19981348	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530769925	chr8:19981353-19981354	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs551068949	chr8:19981356-19981357	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs570827505	chr8:19981358-19981359	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs573593122	chr8:19981359-19981360	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs4921690	chr8:19981363-19981364	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556734257	chr8:19981394-19981395	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs541845575	chr8:19981411-19981412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139405280	chr8:19981416-19981417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560167384	chr8:19981428-19981429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533601606	chr8:19981459-19981460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376007231	chr8:19981460-19981461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577579258	chr8:19981461-19981462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545390591	chr8:19981467-19981468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150051253	chr8:19981476-19981477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60378631	chr8:19981482-19981483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192318720	chr8:19981518-19981519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184875560	chr8:19981564-19981565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59808638	chr8:19981608-19981609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188128583	chr8:19981617-19981618	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs575553765	chr8:19981653-19981654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs551945214	chr8:19981688-19981689	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs180977297	chr8:19981693-19981694	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs186417887	chr8:19981745-19981746	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs189446855	chr8:19981754-19981755	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs546774172	chr8:19981769-19981770	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs369101730	chr8:19981770-19981771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531406117	chr8:19981774-19981775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs569640476	chr8:19981805-19981806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs537197205	chr8:19981819-19981820	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs548742558	chr8:19981842-19981843	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs78957770	chr8:19981868-19981869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs534521872	chr8:19981869-19981870	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs140010223	chr8:19981880-19981881	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs57499165	chr8:19981930-19981931	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557376032	chr8:19981933-19981934	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs535464972	chr8:19981976-19981977	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs181426757	chr8:19981986-19981987	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs143714601	chr8:19981987-19981988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112432431	chr8:19981993-19981994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs573448277	chr8:19982031-19982032	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs533220526	chr8:19982049-19982050	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs146811774	chr8:19982086-19982087	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs141041659	chr8:19982128-19982129	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs186564408	chr8:19982144-19982145	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs547797328	chr8:19982156-19982157	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs563320768	chr8:19982166-19982167	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs566370866	chr8:19982189-19982190	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19978000-19993600	Weak transcription	Right Ventricle	heart
2	chr8:19978200-19987000	Weak transcription	Left Ventricle	heart
3	chr8:19978400-19983000	Weak transcription	Right Atrium	heart
4	chr8:19978600-19982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19979600-19981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19979600-19981400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:19980000-19981400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:19980200-19986000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:19980800-19982200	Enhancers	Adipose Nuclei	Adipose
10	chr8:19980800-19986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:19981000-19981400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:19981000-19981400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:19981000-19981400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:19981000-19981400	Enhancers	Fetal Muscle Leg	muscle
15	chr8:19981000-19981400	Bivalent Enhancer	Placenta	Placenta
16	chr8:19981000-19982200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:19981200-19981400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:19981200-19981400	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:19981200-19981400	Enhancers	HUVEC	blood vessel
20	chr8:19981200-19985800	Weak transcription	HMEC	breast
21	chr8:19981400-19981600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:19981400-19981600	Enhancers	Placenta	Placenta
23	chr8:19981400-19982200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:19981400-19983000	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:19981600-19982000	Bivalent Enhancer	Placenta	Placenta
26	chr8:19981800-19982400	Bivalent Enhancer	A549	lung
27	chr8:19982000-19982800	Enhancers	Placenta	Placenta
28	chr8:19982000-19983000	Enhancers	Fetal Heart	heart
29	chr8:19982000-19983200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:19982000-19983200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:19982000-19984600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:19982200-19982400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:19982200-19982400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:19982200-19983400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:19982800-19984800	Bivalent Enhancer	Placenta	Placenta
36	chr8:19983000-19984200	Enhancers	Fetal Muscle Leg	muscle
37	chr8:19983200-19984200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:19983200-19984600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:19983400-19984000	Enhancers	Brain Germinal Matrix	brain
40	chr8:19984200-19985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:19984400-19984600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:19984600-19984800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:19985800-19987200	Enhancers	HMEC	breast
44	chr8:19985800-19987600	Enhancers	Placenta	Placenta
45	chr8:19985800-19988000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:19986000-19986400	Enhancers	Esophagus	oesophagus
47	chr8:19986000-19987200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:19986000-19987200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:19986000-19987400	Enhancers	NHEK	skin
50	chr8:19986000-19987600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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