Variant report

Variant	nsv1018991
Chromosome Location	chr8:91336887-91374274
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:34)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91363829..91366367-chr8:91367698..91369540,2	MCF-7	breast:
2	chr8:91354031..91355867-chr8:91359338..91361042,2	MCF-7	breast:
3	chr8:91367578..91369191-chr8:91369720..91371767,2	MCF-7	breast:
4	chr8:91362666..91366096-chr8:91366206..91370463,4	K562	blood:
5	chr8:91354031..91355867-chr8:91359338..91361042,2	MCF-7	breast:
6	chr8:91337268..91339876-chr8:91344635..91346425,2	K562	blood:
7	chr8:91366748..91369892-chr8:91373800..91376139,3	MCF-7	breast:
8	chr8:91360431..91363123-chr8:91366443..91367986,2	K562	blood:
9	chr1:149222769..149224989-chr8:91368552..91370176,2	MCF-7	breast:
10	chr8:91367578..91369191-chr8:91369720..91371767,2	MCF-7	breast:
11	chr8:91363829..91366367-chr8:91367698..91369540,2	MCF-7	breast:
12	chr8:91356198..91358109-chr8:91358342..91361071,2	MCF-7	breast:
13	chr8:91335243..91337256-chr8:91340396..91342422,2	K562	blood:
14	chr8:91012062..91014770-chr8:91335047..91337250,3	MCF-7	breast:
15	chr8:91335243..91337256-chr8:91340396..91342422,2	K562	blood:
16	chr8:91013482..91015040-chr8:91365554..91368066,2	MCF-7	breast:
17	chr8:91366748..91369892-chr8:91373800..91376139,3	MCF-7	breast:
18	chr8:91356198..91358109-chr8:91358342..91361071,2	MCF-7	breast:
19	chr8:91360431..91363123-chr8:91366443..91367986,2	K562	blood:
20	chr8:91355349..91357838-chr8:91359194..91361170,2	K562	blood:
21	chr8:91358569..91361084-chr8:91362782..91364560,2	MCF-7	breast:
22	chr8:91319545..91321179-chr8:91338128..91339720,2	K562	blood:
23	chr8:91340563..91342702-chr8:91356361..91357965,2	K562	blood:
24	chr8:91340563..91342702-chr8:91356361..91357965,2	K562	blood:
25	chr8:91013056..91013871-chr8:91340697..91341827,5	MCF-7	breast:
26	chr8:91362666..91366096-chr8:91366206..91370463,4	K562	blood:
27	chr8:91355349..91357838-chr8:91359194..91361170,2	K562	blood:
28	chr8:91337567..91339378-chr8:91340943..91343132,2	K562	blood:
29	chr8:91337567..91339378-chr8:91340943..91343132,2	K562	blood:
30	chr8:91364247..91365968-chr8:91366433..91369668,3	K562	blood:
31	chr8:91364247..91365968-chr8:91366433..91369668,3	K562	blood:
32	chr8:91365455..91367802-chr8:91429981..91431804,2	MCF-7	breast:
33	chr8:91358569..91361084-chr8:91362782..91364560,2	MCF-7	breast:
34	chr8:91337268..91339876-chr8:91344635..91346425,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DECR1-1	chr8:91363769-91363894	ENSG00000253394
2	lnc-CALB1-5	chr8:91372967-91373373	NONHSAT127647
3	lnc-DECR1-1	chr8:91363769-91363894	NONHSAT127644

No data

Variant related genes	Relation type
ENSG00000104325	chromatin interactions
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1336 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1336 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10956590	chr8:91336887-91336888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533286883	chr8:91336890-91336891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12546505	chr8:91336903-91336904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117543322	chr8:91336916-91336917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150908003	chr8:91336972-91336973	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187239674	chr8:91336973-91336974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139432077	chr8:91336982-91336983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528459948	chr8:91336999-91337000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192526683	chr8:91337092-91337093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372998645	chr8:91337095-91337096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149244231	chr8:91337149-91337150	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144457537	chr8:91337195-91337196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545171782	chr8:91337230-91337231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553896722	chr8:91337252-91337253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572280385	chr8:91337275-91337276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185314384	chr8:91337302-91337303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139543096	chr8:91337316-91337317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567994992	chr8:91337319-91337320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531474612	chr8:91337330-91337331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145152490	chr8:91337398-91337399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562772084	chr8:91337404-91337405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558160245	chr8:91337435-91337436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551498345	chr8:91337453-91337454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573310444	chr8:91337463-91337464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147602193	chr8:91337464-91337465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190137777	chr8:91337465-91337466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567964517	chr8:91337479-91337480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538188987	chr8:91337487-91337488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535714983	chr8:91337515-91337516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193122462	chr8:91337520-91337521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114541037	chr8:91337523-91337524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556982272	chr8:91337528-91337529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568984491	chr8:91337545-91337546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140515389	chr8:91337593-91337594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572143232	chr8:91337733-91337734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144453873	chr8:91337806-91337807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184798752	chr8:91337817-91337818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539299741	chr8:91337851-91337852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35922068	chr8:91337867-91337868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377163364	chr8:91337916-91337917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4735609	chr8:91337988-91337989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543401046	chr8:91338021-91338022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529837597	chr8:91338065-91338066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577622158	chr8:91338067-91338068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544951489	chr8:91338077-91338078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151220574	chr8:91338085-91338086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527744969	chr8:91338086-91338087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549440182	chr8:91338149-91338150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189261745	chr8:91338160-91338161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531928997	chr8:91338204-91338205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91314800-91341200	Weak transcription	K562	blood
2	chr8:91330600-91343800	Weak transcription	Ovary	ovary
3	chr8:91336200-91337400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:91336400-91337000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:91336400-91337000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:91336400-91337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:91336400-91337200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:91336400-91337400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:91336400-91337400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:91336400-91337400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:91336400-91337400	Enhancers	HUVEC	blood vessel
12	chr8:91336400-91337400	Enhancers	NH-A	brain
13	chr8:91336400-91337600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:91336400-91337600	Enhancers	Hela-S3	cervix
15	chr8:91336400-91337800	Enhancers	Dnd41	blood
16	chr8:91336600-91337000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:91336600-91337000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:91336600-91337200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:91336600-91337400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:91336600-91337400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:91336600-91337400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:91336600-91337600	Enhancers	Pancreas	Pancrea
23	chr8:91336800-91337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:91336800-91337400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:91337000-91337400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr8:91337000-91353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:91337400-91338400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:91337600-91338000	Weak transcription	Pancreas	Pancrea
29	chr8:91337800-91342600	Weak transcription	Dnd41	blood
30	chr8:91338000-91338400	Enhancers	Pancreas	Pancrea
31	chr8:91338400-91338600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:91341200-91341400	Enhancers	K562	blood
33	chr8:91341400-91341800	Weak transcription	K562	blood
34	chr8:91341800-91342000	Enhancers	K562	blood
35	chr8:91342000-91342600	Weak transcription	K562	blood
36	chr8:91342600-91343000	Enhancers	Dnd41	blood
37	chr8:91342600-91343600	Strong transcription	K562	blood
38	chr8:91343600-91344200	Weak transcription	K562	blood
39	chr8:91344200-91344400	ZNF genes & repeats	K562	blood
40	chr8:91344200-91345600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:91344400-91345000	Strong transcription	K562	blood
42	chr8:91345000-91345600	ZNF genes & repeats	K562	blood
43	chr8:91345600-91346000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:91345600-91350600	Weak transcription	K562	blood
45	chr8:91345800-91346000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:91350600-91352000	Strong transcription	K562	blood
47	chr8:91352000-91364400	Weak transcription	K562	blood
48	chr8:91353200-91353400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:91353400-91357800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:91354400-91354600	Enhancers	HMEC	breast

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