Variant report

Variant	nsv521998
Chromosome Location	chr8:130921162-130932427
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130927994..130929549-chr8:131028328..131029984,2	K562	blood:
2	chr8:130926539..130930830-chr8:130934319..130938827,6	K562	blood:
3	chr8:130921182..130922896-chr8:130924381..130926057,2	K562	blood:
4	chr8:130921182..130922896-chr8:130924381..130926057,2	K562	blood:
5	chr8:130927319..130929438-chr8:130934732..130937622,2	K562	blood:
6	chr8:130930324..130932060-chr8:130948055..130949647,2	K562	blood:
7	chr8:130908195..130912113-chr8:130924701..130928264,3	K562	blood:
8	chr8:130927294..130929703-chr8:130944717..130947284,2	K562	blood:
9	chr8:130912812..130915436-chr8:130923163..130924883,2	MCF-7	breast:
10	chr8:130924171..130926476-chr8:131049925..131052466,2	K562	blood:
11	chr8:130899351..130900915-chr8:130924645..130927634,2	K562	blood:
12	chr8:130924765..130927470-chr8:131026924..131028748,2	K562	blood:
13	chr8:130930636..130935048-chr8:130935084..130940151,7	K562	blood:
14	chr8:130929142..130931914-chr8:130936634..130939262,2	MCF-7	breast:
15	chr8:130921210..130924992-chr8:130930808..130933056,3	K562	blood:
16	chr8:130921210..130924992-chr8:130930808..130933056,3	K562	blood:
17	chr8:130931267..130935486-chr8:130937892..130940092,5	K562	blood:
18	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:
19	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153310	chromatin interactions

Extended variants
information (count: 412 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2624810	chr8:130921162-130921163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116053699	chr8:130921174-130921175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199876836	chr8:130921193-130921194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35437149	chr8:130921197-130921198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77519872	chr8:130921198-130921199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5895012	chr8:130921204-130921205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554014677	chr8:130921240-130921241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1979477	chr8:130921271-130921272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562787795	chr8:130921279-130921280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545987129	chr8:130921362-130921363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148823579	chr8:130921389-130921390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182129131	chr8:130921422-130921423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143449895	chr8:130921428-130921429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186672714	chr8:130921461-130921462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117797753	chr8:130921561-130921562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540695945	chr8:130921571-130921572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148367344	chr8:130921607-130921608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16904171	chr8:130921625-130921626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564407707	chr8:130921667-130921668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530093549	chr8:130921686-130921687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577904862	chr8:130921729-130921730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542978207	chr8:130921756-130921757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76990838	chr8:130921796-130921797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143336067	chr8:130921804-130921805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190728602	chr8:130921846-130921847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567687250	chr8:130921883-130921884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147120722	chr8:130921919-130921920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150835758	chr8:130921928-130921929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373631597	chr8:130921933-130921934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561132051	chr8:130921950-130921951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553109315	chr8:130921958-130921959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111364479	chr8:130921964-130921965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144035241	chr8:130922003-130922004	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528314998	chr8:130922069-130922070	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181961966	chr8:130922160-130922161	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150639945	chr8:130922167-130922168	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139778416	chr8:130922168-130922169	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555420301	chr8:130922184-130922185	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560394680	chr8:130922210-130922211	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528960263	chr8:130922234-130922235	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71522558	chr8:130922250-130922251	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185106681	chr8:130922316-130922317	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149340139	chr8:130922353-130922354	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75008385	chr8:130922375-130922376	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376320576	chr8:130922384-130922385	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34205411	chr8:130922406-130922407	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546428098	chr8:130922454-130922455	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563678766	chr8:130922472-130922473	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56358869	chr8:130922486-130922487	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2046260	chr8:130922524-130922525	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:159)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:130900000-130922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:130900600-130922000	Weak transcription	Esophagus	oesophagus
7	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:130900800-130922000	Weak transcription	Gastric	stomach
9	chr8:130901000-130922000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:130901000-130922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:130901000-130922800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:130901000-130924600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:130901000-130924600	Weak transcription	K562	blood
14	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:130902600-130921800	Weak transcription	Adipose Nuclei	Adipose
17	chr8:130903800-130922000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
19	chr8:130904000-130950600	Weak transcription	HSMM	muscle
20	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:130904600-130922000	Weak transcription	HMEC	breast
22	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:130909400-130924800	Weak transcription	NHEK	skin
26	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:130912600-130922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:130912600-130924000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:130912800-130924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:130912800-130925800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:130913000-130923200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:130913000-130923400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:130913200-130922800	Weak transcription	Spleen	Spleen
34	chr8:130913200-130924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
36	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
37	chr8:130913800-130922000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:130913800-130925000	Weak transcription	Thymus	Thymus
39	chr8:130914000-130922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:130914000-130926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:130914400-130925600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:130915000-130923000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:130916800-130921200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:130916800-130922000	Weak transcription	Primary B cells from cord blood	blood
45	chr8:130916800-130922800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:130916800-130923000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:130916800-130923200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:130917000-130927400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:130917200-130921800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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