Variant report

Variant	nsv1019809
Chromosome Location	chr8:61597918-61624034
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:61590547..61593297-chr8:61607284..61609575,2	MCF-7	breast:
2	chr8:61599708..61602124-chr8:61603749..61606422,3	MCF-7	breast:
3	chr8:61602668..61604287-chr8:61616194..61618289,2	MCF-7	breast:
4	chr8:61596105..61598331-chr8:61606151..61608898,3	MCF-7	breast:
5	chr8:61601943..61604368-chr8:61616321..61619419,3	K562	blood:
6	chr8:61600702..61602522-chr8:61602539..61605188,2	K562	blood:
7	chr8:61601737..61603348-chr8:61606675..61608350,2	MCF-7	breast:
8	chr8:61599708..61602124-chr8:61603749..61606422,3	MCF-7	breast:
9	chr8:61597723..61599279-chr8:61608776..61610801,2	K562	blood:
10	chr8:61623114..61624707-chr8:61626809..61628509,2	MCF-7	breast:
11	chr8:61590866..61593326-chr8:61611712..61615687,3	MCF-7	breast:
12	chr8:61594018..61597231-chr8:61607679..61611092,4	K562	blood:
13	chr8:61614401..61615964-chr8:61617449..61618958,2	MCF-7	breast:
14	chr8:61612592..61618600-chr8:61619190..61622495,7	MCF-7	breast:
15	chr8:61605995..61607571-chr8:61609134..61612024,2	MCF-7	breast:
16	chr8:61604857..61607132-chr8:61609872..61611507,2	MCF-7	breast:
17	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
18	chr8:61590260..61597729-chr8:61611560..61624694,18	MCF-7	breast:
19	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
20	chr8:61602668..61604287-chr8:61616194..61618289,2	MCF-7	breast:
21	chr8:61614401..61615964-chr8:61617449..61618958,2	MCF-7	breast:
22	chr8:61594274..61596445-chr8:61605915..61607443,2	MCF-7	breast:
23	chr8:61564774..61566716-chr8:61606613..61609248,2	MCF-7	breast:
24	chr8:61604857..61607132-chr8:61609872..61611507,2	MCF-7	breast:
25	chr8:61610380..61613389-chr8:61616371..61618193,3	MCF-7	breast:
26	chr8:61612691..61616083-chr8:61619050..61621954,3	K562	blood:
27	chr8:61612592..61618600-chr8:61619190..61622495,7	MCF-7	breast:
28	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:
29	chr8:61600702..61602522-chr8:61602539..61605188,2	K562	blood:
30	chr8:61586135..61588890-chr8:61597344..61600255,2	MCF-7	breast:
31	chr8:61596105..61598331-chr8:61606151..61608898,3	MCF-7	breast:
32	chr8:61612691..61616083-chr8:61619050..61621954,3	K562	blood:
33	chr8:61605995..61607571-chr8:61609134..61612024,2	MCF-7	breast:
34	chr8:61601943..61604368-chr8:61616321..61619419,3	K562	blood:
35	chr8:61597723..61599279-chr8:61608776..61610801,2	K562	blood:
36	chr8:61612804..61613328-chr8:61936184..61936687,2	MCF-7	breast:
37	chr8:61595844..61597847-chr8:61600108..61602179,3	MCF-7	breast:
38	chr8:61610380..61613389-chr8:61616371..61618193,3	MCF-7	breast:
39	chr8:61564632..61566993-chr8:61599888..61601960,2	MCF-7	breast:
40	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:
41	chr8:61599531..61602030-chr8:61683939..61686653,2	MCF-7	breast:
42	chr8:61563289..61565598-chr8:61614731..61616834,3	MCF-7	breast:
43	chr8:61601737..61603348-chr8:61606675..61608350,2	MCF-7	breast:
44	chr8:61619832..61624344-chr8:61624507..61628732,6	MCF-7	breast:
45	chr8:61595659..61597988-chr8:61649091..61651205,2	MCF-7	breast:
46	chr8:61563298..61566288-chr8:61597428..61599462,2	K562	blood:
47	chr8:61603796..61605326-chr8:61626958..61629344,2	MCF-7	breast:
48	chr8:61563492..61565513-chr8:61620455..61623990,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254869	chromatin interactions
ENSG00000171316	chromatin interactions

Extended variants
information (count: 981 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565566744	chr8:61597918-61597919	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140080145	chr8:61597926-61597927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187130017	chr8:61597958-61597959	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150334405	chr8:61597966-61597967	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527360008	chr8:61597972-61597973	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191950089	chr8:61597981-61597982	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72650447	chr8:61597987-61597988	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113848920	chr8:61597997-61597998	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2128713	chr8:61598007-61598008	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115629129	chr8:61598010-61598011	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556050315	chr8:61598013-61598014	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571163786	chr8:61598229-61598230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs137981287	chr8:61598247-61598248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553517516	chr8:61598274-61598275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571894433	chr8:61598285-61598286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117095732	chr8:61598333-61598334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545232487	chr8:61598414-61598415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75384961	chr8:61598453-61598454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555686927	chr8:61598470-61598471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576398660	chr8:61598476-61598477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543758188	chr8:61598488-61598489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565217347	chr8:61598490-61598491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146109913	chr8:61598526-61598527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4738814	chr8:61598554-61598555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541656904	chr8:61598572-61598573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183211046	chr8:61598573-61598574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530290351	chr8:61598608-61598609	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79118478	chr8:61598664-61598665	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375514752	chr8:61598666-61598667	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541242134	chr8:61598731-61598732	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550550986	chr8:61598735-61598736	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201753670	chr8:61598785-61598786	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139026962	chr8:61598793-61598794	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111432172	chr8:61598819-61598820	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372664251	chr8:61598849-61598850	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376199019	chr8:61598873-61598874	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78241072	chr8:61598898-61598899	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75954486	chr8:61598899-61598900	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10602629	chr8:61598908-61598909	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78778938	chr8:61598912-61598913	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77972032	chr8:61598920-61598921	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71245514	chr8:61598923-61598924	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549340693	chr8:61598934-61598935	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369998651	chr8:61598979-61598980	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187922549	chr8:61598981-61598982	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372972086	chr8:61599003-61599004	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs900503	chr8:61599122-61599123	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538581387	chr8:61599178-61599179	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547268700	chr8:61599211-61599212	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565783855	chr8:61599212-61599213	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61594000-61598000	Enhancers	Fetal Heart	heart
3	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr8:61594000-61610400	Weak transcription	A549	lung
5	chr8:61594200-61598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:61594200-61598800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
8	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
9	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
11	chr8:61594400-61599200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:61594400-61599800	Enhancers	Brain Hippocampus Middle	brain
13	chr8:61594400-61600800	Enhancers	Primary T cells from cord blood	blood
14	chr8:61594800-61598000	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:61594800-61598000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr8:61595000-61598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:61595200-61598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:61595400-61598000	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:61595600-61598000	Enhancers	Liver	Liver
20	chr8:61595600-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:61595800-61598000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:61595800-61598200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:61595800-61599800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:61596000-61598800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:61596000-61599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:61596000-61599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:61596200-61598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:61596200-61598000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:61596200-61598000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:61596200-61598000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:61596200-61598000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:61596200-61598000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:61596200-61598200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:61596200-61598200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:61596200-61598200	Enhancers	Left Ventricle	heart
36	chr8:61596200-61598200	Enhancers	Psoas Muscle	Psoas
37	chr8:61596200-61598400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:61596200-61598400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr8:61596200-61599200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:61596600-61598200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:61596800-61598000	Enhancers	Brain Angular Gyrus	brain
42	chr8:61596800-61598000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:61596800-61598000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:61596800-61598200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:61596800-61598200	Enhancers	Right Atrium	heart
46	chr8:61596800-61598400	Enhancers	Right Ventricle	heart
47	chr8:61596800-61600000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:61597000-61598000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:61597000-61598000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:61597000-61598600	Enhancers	Brain Anterior Caudate	brain

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