Variant report

Variant	nsv1031775
Chromosome Location	chr8:86855165-86877613
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:42)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86863160..86866224-chr8:86868226..86872946,5	K562	blood:
2	chr8:86873909..86875817-chr8:86877327..86879783,3	K562	blood:
3	chr8:86864135..86865739-chr8:86867994..86869726,2	K562	blood:
4	chr8:86866810..86870482-chr8:86870568..86874255,4	K562	blood:
5	chr8:86849937..86852745-chr8:86855936..86857800,2	K562	blood:
6	chr8:86864951..86867156-chr8:86950288..86952196,2	K562	blood:
7	chr8:86854974..86856986-chr8:86861959..86864314,2	MCF-7	breast:
8	chr8:86866810..86870482-chr8:86870568..86874255,4	K562	blood:
9	chr8:86852142..86856180-chr8:86917083..86921619,8	MCF-7	breast:
10	chr8:86853239..86855562-chr8:86941096..86942635,2	MCF-7	breast:
11	chr8:86877063..86879169-chr8:86913425..86915050,2	K562	blood:
12	chr8:86853963..86856746-chr8:86949985..86952408,2	K562	blood:
13	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
14	chr8:86855992..86858469-chr8:86859660..86861283,2	MCF-7	breast:
15	chr8:86855854..86858675-chr8:86858692..86862985,4	K562	blood:
16	chr8:86863160..86866224-chr8:86868226..86872946,5	K562	blood:
17	chr8:86853468..86855962-chr8:86866121..86867816,2	MCF-7	breast:
18	chr8:86849418..86851109-chr8:86874092..86876828,2	MCF-7	breast:
19	chr8:86867877..86870175-chr8:86957602..86960658,3	K562	blood:
20	chr8:86855992..86858469-chr8:86859660..86861283,2	MCF-7	breast:
21	chr8:86865679..86869782-chr8:86870364..86872343,3	MCF-7	breast:
22	chr8:86876992..86879169-chr8:86912945..86915050,2	K562	blood:
23	chr8:86855854..86858107-chr8:86860014..86862808,3	K562	blood:
24	chr8:86868209..86870416-chr8:86917445..86919044,2	K562	blood:
25	chr8:86854256..86855844-chr8:86962935..86965322,2	K562	blood:
26	chr8:86864135..86865739-chr8:86867994..86869726,2	K562	blood:
27	chr8:86854974..86856986-chr8:86861959..86864314,2	MCF-7	breast:
28	chr8:86855854..86858107-chr8:86860014..86862808,3	K562	blood:
29	chr8:86865438..86867152-chr8:86874296..86876870,2	MCF-7	breast:
30	chr8:86847849..86857260-chr8:86866079..86880479,25	MCF-7	breast:
31	chr8:86866655..86868927-chr8:86870590..86874049,3	K562	blood:
32	chr8:86873909..86875817-chr8:86877327..86879783,3	K562	blood:
33	chr8:86853468..86855962-chr8:86866121..86867816,2	MCF-7	breast:
34	chr8:86865679..86869782-chr8:86870364..86872343,3	MCF-7	breast:
35	chr8:86865438..86867152-chr8:86874296..86876870,2	MCF-7	breast:
36	chr8:86853963..86856698-chr8:86950908..86953530,2	K562	blood:
37	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:
38	chr8:86849344..86852342-chr8:86863151..86865379,2	K562	blood:
39	chr8:86866655..86868927-chr8:86870590..86874049,3	K562	blood:
40	chr8:86855854..86858675-chr8:86858692..86862985,4	K562	blood:
41	chr8:86854583..86856864-chr8:86887493..86890271,2	MCF-7	breast:
42	chr8:86850726..86853148-chr8:86853230..86857704,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REXO1L2P-2	chr8:86864119-86865001	XLOC_007141
2	lnc-REXO1L2P-2	chr8:86866739-86866829	XLOC_007141

No data

Variant related genes	Relation type
ENSG00000104267	chromatin interactions
ENSG00000253154	chromatin interactions
ENSG00000253549	chromatin interactions

Extended variants
information (count: 719 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7836638	chr8:86855165-86855166	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375683965	chr8:86855170-86855171	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185230441	chr8:86855208-86855209	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577553490	chr8:86855346-86855347	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537656107	chr8:86855398-86855399	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369579551	chr8:86855501-86855502	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532436254	chr8:86855509-86855510	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567809372	chr8:86855530-86855531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs533675662	chr8:86855533-86855534	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs191216001	chr8:86855624-86855625	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553710872	chr8:86855636-86855637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs145821945	chr8:86855646-86855647	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs56894065	chr8:86855651-86855652	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183246918	chr8:86855661-86855662	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370717908	chr8:86855781-86855782	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs16899237	chr8:86855797-86855798	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187522553	chr8:86855803-86855804	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561513644	chr8:86855815-86855816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs113924331	chr8:86855823-86855824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574854635	chr8:86855887-86855888	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs540406721	chr8:86855928-86855929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113718181	chr8:86855962-86855963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs11281068	chr8:86855967-86855968	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377756239	chr8:86855975-86855976	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559672552	chr8:86856061-86856062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs560505594	chr8:86856062-86856063	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs527600746	chr8:86856077-86856078	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs545648031	chr8:86856117-86856118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562454297	chr8:86856160-86856161	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs140573313	chr8:86856180-86856181	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs112246029	chr8:86856244-86856245	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs193051741	chr8:86856252-86856253	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs527344234	chr8:86856299-86856300	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs547196410	chr8:86856312-86856313	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs144298577	chr8:86856332-86856333	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs371202293	chr8:86856353-86856354	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183059933	chr8:86856552-86856553	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs556229240	chr8:86856574-86856575	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375036225	chr8:86856578-86856579	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538585616	chr8:86856579-86856580	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548827473	chr8:86856740-86856741	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs555191631	chr8:86856767-86856768	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs146546279	chr8:86856786-86856787	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs540674572	chr8:86856796-86856797	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs3912427	chr8:86856799-86856800	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577132554	chr8:86856826-86856827	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs545774415	chr8:86856868-86856869	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550838444	chr8:86856925-86856926	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs141257859	chr8:86856940-86856941	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531495629	chr8:86856941-86856942	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86849600-86855400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:86849800-86855200	Weak transcription	NH-A	brain
3	chr8:86850000-86855200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:86850000-86859000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:86850000-86861000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:86850200-86859000	Weak transcription	Brain Anterior Caudate	brain
7	chr8:86852000-86856000	Enhancers	HMEC	breast
8	chr8:86852200-86856000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:86852400-86855800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:86852600-86855800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:86852800-86856000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:86852800-86856000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:86852800-86856200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:86853000-86855600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:86853200-86855800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:86853400-86855800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:86853400-86860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:86853600-86856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:86853600-86864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:86854200-86855800	Enhancers	K562	blood
21	chr8:86854200-86859000	Weak transcription	Stomach Mucosa	stomach
22	chr8:86854400-86860800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:86854400-86861000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:86854800-86855600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:86854800-86856000	Enhancers	Psoas Muscle	Psoas
26	chr8:86854800-86856000	Enhancers	NHEK	skin
27	chr8:86854800-86856000	Enhancers	Osteobl	bone
28	chr8:86855000-86855200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:86855000-86855200	Enhancers	Brain Hippocampus Middle	brain
30	chr8:86855000-86855600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:86855000-86855600	Enhancers	Fetal Lung	lung
32	chr8:86855000-86855600	Enhancers	Placenta	Placenta
33	chr8:86855000-86856000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:86855000-86856000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:86855000-86856000	Enhancers	Hela-S3	cervix
36	chr8:86855200-86855800	Enhancers	NH-A	brain
37	chr8:86855200-86856000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:86855200-86860800	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:86855400-86856200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:86855600-86856600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:86855600-86858600	Weak transcription	Fetal Lung	lung
42	chr8:86855600-86875600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:86855800-86856000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:86855800-86856200	Flanking Active TSS	K562	blood
45	chr8:86855800-86857000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:86855800-86857600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:86855800-86860800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:86856000-86858000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:86856000-86860800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:86856000-86861000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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