Variant report

Variant	nsv891170
Chromosome Location	chr8:89227970-89298199
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:89278171..89279761-chr8:89284825..89287606,2	MCF-7	breast:
2	chr8:89254721..89256810-chr8:89272471..89275447,2	MCF-7	breast:
3	chr8:89278171..89279761-chr8:89284825..89287606,2	MCF-7	breast:
4	chr8:89251063..89254156-chr8:89255310..89258377,3	MCF-7	breast:
5	chr8:89225567..89226115-chr8:89241468..89242188,2	MCF-7	breast:
6	chr8:89247957..89250912-chr8:89288410..89290191,2	MCF-7	breast:
7	chr8:89247957..89250912-chr8:89288410..89290191,2	MCF-7	breast:
8	chr8:89251063..89254156-chr8:89255310..89258377,3	MCF-7	breast:
9	chr14:106915661..106917953-chr8:89256955..89259785,2	MCF-7	breast:
10	chr8:89215742..89216325-chr8:89296713..89297368,2	MCF-7	breast:
11	chr8:89215336..89216269-chr8:89293539..89294172,2	MCF-7	breast:
12	chr8:89254721..89256810-chr8:89272471..89275447,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228966	chromatin interactions

Extended variants
information (count: 2556 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:2556 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13256568	chr8:89227970-89227971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138768730	chr8:89227985-89227986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531608640	chr8:89228018-89228019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141819130	chr8:89228042-89228043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571757575	chr8:89228046-89228047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532698987	chr8:89228058-89228059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146265558	chr8:89228059-89228060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567787378	chr8:89228065-89228066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138051451	chr8:89228072-89228073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183566260	chr8:89228079-89228080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149506963	chr8:89228175-89228176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185281253	chr8:89228204-89228205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567213053	chr8:89228208-89228209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537434486	chr8:89228221-89228222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556171476	chr8:89228260-89228261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116029496	chr8:89228296-89228297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191068034	chr8:89228306-89228307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556393591	chr8:89228308-89228309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182790368	chr8:89228353-89228354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538947690	chr8:89228403-89228404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143981990	chr8:89228524-89228525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554065804	chr8:89228588-89228589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572327447	chr8:89228602-89228603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188359922	chr8:89228655-89228656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572248670	chr8:89228659-89228660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543258498	chr8:89228685-89228686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561430142	chr8:89228718-89228719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148625640	chr8:89228735-89228736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543447832	chr8:89228741-89228742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565305999	chr8:89228843-89228844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542650486	chr8:89228885-89228886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192838273	chr8:89228936-89228937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547936030	chr8:89229032-89229033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34718423	chr8:89229084-89229085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576099919	chr8:89229128-89229129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560345558	chr8:89229132-89229133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532342220	chr8:89229194-89229195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182841065	chr8:89229218-89229219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567446050	chr8:89229241-89229242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552544603	chr8:89229251-89229252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560683108	chr8:89229309-89229310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575736784	chr8:89229315-89229316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142702854	chr8:89229356-89229357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543086983	chr8:89229441-89229442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538318400	chr8:89229449-89229450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565794080	chr8:89229456-89229457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147343085	chr8:89229482-89229483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536432631	chr8:89229506-89229507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1879200	chr8:89229539-89229540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576637562	chr8:89229543-89229544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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	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
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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89217800-89231400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:89227600-89228200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:89227600-89228200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:89227600-89228200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:89227600-89228400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:89227600-89228400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:89227800-89228000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:89227800-89228200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:89227800-89228800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:89228000-89228200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:89228200-89230000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:89228200-89230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:89228200-89230200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:89228200-89231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:89228400-89230000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:89228400-89230000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:89228800-89231400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:89230000-89230600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:89230000-89231600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:89230000-89231800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:89230200-89230600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:89230200-89230800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:89230600-89231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:89230600-89231600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:89230800-89232000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:89230800-89238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:89231000-89231600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:89231200-89232000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:89231400-89231800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:89231400-89231800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:89231600-89231800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:89231800-89232000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:89231800-89232600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:89232000-89233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:89232600-89232800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:89233400-89233600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:89233600-89239400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:89236200-89237000	Enhancers	NH-A	brain
39	chr8:89236400-89237200	Enhancers	Fetal Lung	lung
40	chr8:89236400-89238800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:89236800-89239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:89237000-89244200	Weak transcription	NH-A	brain
43	chr8:89237200-89239200	Weak transcription	Fetal Lung	lung
44	chr8:89238800-89239000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:89238800-89239000	Enhancers	Aorta	Aorta
46	chr8:89238800-89239400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr8:89238800-89240000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:89238800-89240200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:89238800-89243400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:89239000-89239400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links