Variant report

Variant	nsv891127
Chromosome Location	chr8:86470188-86528774
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86475952..86478807-chr8:86480492..86482472,2	MCF-7	breast:
2	chr8:86468837..86470919-chr8:86472571..86475543,2	MCF-7	breast:
3	chr8:86482210..86485611-chr8:86487040..86489200,3	MCF-7	breast:
4	chr8:86494376..86498242-chr8:86499635..86502661,3	MCF-7	breast:
5	chr8:86375239..86377397-chr8:86481535..86484020,2	MCF-7	breast:
6	chr8:86494376..86498242-chr8:86499635..86502661,3	MCF-7	breast:
7	chr8:86475952..86478807-chr8:86480492..86482472,2	MCF-7	breast:
8	chr8:86525634..86527923-chr8:86533854..86535632,2	MCF-7	breast:
9	chr8:43092411..43092911-chr8:86471290..86472121,2	MCF-7	breast:
10	chr8:86468837..86470919-chr8:86472571..86475543,2	MCF-7	breast:
11	chr8:86439507..86442336-chr8:86514176..86515935,2	MCF-7	breast:
12	chr8:86466130..86468882-chr8:86474529..86476271,2	MCF-7	breast:
13	chr8:86482210..86485611-chr8:86487040..86489200,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REXO1L1-3	chr8:86509528-86509569	NONHSAT127537
2	lnc-REXO1L1-3	chr8:86508349-86508606	NONHSAT127537

No data

Variant related genes	Relation type
ENSG00000253549	chromatin interactions
ENSG00000104267	chromatin interactions

Extended variants
information (count: 1817 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1817 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs359528	chr8:86470188-86470189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7014618	chr8:86470231-86470232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193173793	chr8:86470234-86470235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185023647	chr8:86470282-86470283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188590408	chr8:86470293-86470294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73265413	chr8:86470313-86470314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192756771	chr8:86470323-86470324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183963785	chr8:86470378-86470379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374193863	chr8:86470415-86470416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112770001	chr8:86470484-86470485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188200759	chr8:86470495-86470496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539331635	chr8:86470525-86470526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556158837	chr8:86470559-86470560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575938086	chr8:86470571-86470572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541993187	chr8:86470596-86470597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7010491	chr8:86470645-86470646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544913838	chr8:86470724-86470725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144266476	chr8:86470728-86470729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180693093	chr8:86470744-86470745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140834903	chr8:86470746-86470747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184788793	chr8:86470759-86470760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546167021	chr8:86470761-86470762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112494980	chr8:86470776-86470777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147872074	chr8:86470783-86470784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115831858	chr8:86470785-86470786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568229350	chr8:86470813-86470814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566173086	chr8:86470842-86470843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189195899	chr8:86470958-86470959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78071210	chr8:86470977-86470978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182323534	chr8:86471009-86471010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186894809	chr8:86471032-86471033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539761690	chr8:86471038-86471039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191840582	chr8:86471057-86471058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75163613	chr8:86471184-86471185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141584569	chr8:86471195-86471196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535454219	chr8:86471202-86471203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555369520	chr8:86471244-86471245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs401245	chr8:86471245-86471246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201549206	chr8:86471252-86471253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572196058	chr8:86471300-86471301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181430881	chr8:86471343-86471344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554382615	chr8:86471345-86471346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577360719	chr8:86471384-86471385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546328523	chr8:86471388-86471389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185539217	chr8:86471397-86471398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576292448	chr8:86471475-86471476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142684853	chr8:86471495-86471496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561724730	chr8:86471586-86471587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546149959	chr8:86471592-86471593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559161027	chr8:86471601-86471602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Colorectal cancer	21645411	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86468000-86470200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:86468600-86470200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:86469200-86470200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:86469200-86472000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:86469400-86471600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:86469400-86471600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:86469400-86474600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:86469400-86475000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:86469400-86475000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:86469600-86472600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:86469800-86474800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:86470000-86475400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:86470200-86471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:86470200-86471800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:86470200-86474800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:86471600-86472200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:86471600-86472200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:86471600-86472200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:86471800-86472200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:86472000-86472200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:86472200-86474600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:86472200-86474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:86472200-86474800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:86473800-86474600	Weak transcription	Brain Substantia Nigra	brain
25	chr8:86474400-86475400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:86474600-86475200	Enhancers	Psoas Muscle	Psoas
27	chr8:86474600-86475400	Enhancers	Fetal Intestine Large	intestine
28	chr8:86474600-86475400	Enhancers	Fetal Intestine Small	intestine
29	chr8:86474600-86475400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:86474600-86476000	Enhancers	Brain Substantia Nigra	brain
31	chr8:86474600-86476600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:86474800-86475000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:86474800-86475000	Enhancers	Left Ventricle	heart
34	chr8:86474800-86475200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:86474800-86475200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:86474800-86475200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:86475000-86475200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:86475000-86475200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:86475000-86475400	Enhancers	Brain Anterior Caudate	brain
40	chr8:86475400-86476200	Enhancers	Brain Hippocampus Middle	brain
41	chr8:86475400-86480600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:86475400-86480800	Weak transcription	Fetal Intestine Large	intestine
43	chr8:86475400-86481000	Weak transcription	Brain Anterior Caudate	brain
44	chr8:86475800-86476000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:86476000-86477200	Enhancers	HMEC	breast
46	chr8:86476000-86480600	Weak transcription	Brain Substantia Nigra	brain
47	chr8:86476200-86480600	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:86476600-86481200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:86476800-86477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:86477000-86477400	Enhancers	Esophagus	oesophagus

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