Variant report

Variant	nsv891389
Chromosome Location	chr8:115603659-115695166
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:3)
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	chr8:115661718..115664007-chr8:115669126..115671791,3	MCF-7	breast:
2	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
3	chr8:115672072..115674902-chr8:115675428..115678154,2	MCF-7	breast:
4	chr8:115659374..115661698-chr8:115661998..115664960,2	K562	blood:
5	chr8:115659374..115661698-chr8:115661998..115664960,2	K562	blood:
6	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
7	chr8:115672072..115674902-chr8:115675428..115678154,2	MCF-7	breast:
8	chr8:115648075..115653566-chr8:115653938..115656968,8	MCF-7	breast:
9	chr8:115648075..115653566-chr8:115653938..115656968,8	MCF-7	breast:
10	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
11	chr8:115690493..115692779-chr8:115729828..115731998,2	K562	blood:
12	chr8:115661718..115664007-chr8:115669126..115671791,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-67H2.1.1-5	chr8:115660594-115660666	NONHSAT128359
2	lnc-RP11-67H2.1.1-5	chr8:115686107-115686229	NONHSAT128359
3	lnc-RP11-67H2.1.1-5	chr8:115681785-115682907	NONHSAT128359

No data

Extended variants
information (count: 755 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7000026	chr8:115603659-115603660	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs543883435	chr8:115603686-115603687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187145026	chr8:115603698-115603699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372109055	chr8:115603743-115603744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532471905	chr8:115603792-115603793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547545437	chr8:115603812-115603813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11357590	chr8:115603814-115603815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191918381	chr8:115603874-115603875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536637161	chr8:115603902-115603903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370386236	chr8:115603967-115603968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530300110	chr8:115604057-115604058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535321333	chr8:115604079-115604080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548627049	chr8:115604083-115604084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182714981	chr8:115604103-115604104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112499212	chr8:115604125-115604126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556218316	chr8:115604202-115604203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187753909	chr8:115604222-115604223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192378384	chr8:115604223-115604224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111959122	chr8:115604232-115604233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141352974	chr8:115604274-115604275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185622950	chr8:115604288-115604289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150182587	chr8:115604316-115604317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190496449	chr8:115604323-115604324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148629868	chr8:115604324-115604325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373939162	chr8:115604371-115604372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553633724	chr8:115604406-115604407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576375868	chr8:115604469-115604470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73358865	chr8:115604520-115604521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558684388	chr8:115604546-115604547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564946562	chr8:115604575-115604576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138746053	chr8:115604587-115604588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540954982	chr8:115604588-115604589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532433535	chr8:115604595-115604596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541148813	chr8:115604611-115604612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192069734	chr8:115604693-115604694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530262855	chr8:115604721-115604722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548850906	chr8:115604730-115604731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75176493	chr8:115604771-115604772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146342558	chr8:115604790-115604791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76173664	chr8:115604809-115604810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543365824	chr8:115604882-115604883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72688156	chr8:115604906-115604907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538711420	chr8:115604910-115604911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114803481	chr8:115604930-115604931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369547513	chr8:115604962-115604963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372638974	chr8:115605001-115605002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559534647	chr8:115605007-115605008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565866578	chr8:115605025-115605026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536098224	chr8:115605028-115605029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568340927	chr8:115605037-115605038	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
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
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
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
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
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
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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115601800-115604200	Weak transcription	Dnd41	blood
2	chr8:115604200-115606400	Enhancers	Dnd41	blood
3	chr8:115618000-115618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:115619600-115620400	Enhancers	Dnd41	blood
5	chr8:115619800-115620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:115619800-115620200	Enhancers	Colon Smooth Muscle	Colon
7	chr8:115621600-115622000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:115641600-115642000	Enhancers	Fetal Lung	lung
9	chr8:115649000-115649600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:115649000-115649600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:115649000-115649800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:115649000-115649800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr8:115649000-115650000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:115649000-115650000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:115649200-115649600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:115649200-115649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr8:115649200-115649600	Active TSS	Hela-S3	cervix
18	chr8:115649200-115649800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr8:115649200-115649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:115649200-115649800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:115649800-115650200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:115653600-115654000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:115653600-115654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:115656800-115657400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:115657400-115661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:115658800-115659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:115659400-115662200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:115661200-115661800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:115661200-115664200	Enhancers	Dnd41	blood
30	chr8:115661800-115663200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:115663400-115663600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:115664200-115665200	Flanking Active TSS	Dnd41	blood
33	chr8:115670200-115670600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:115670400-115670800	Enhancers	Dnd41	blood
35	chr8:115689600-115692400	Enhancers	Dnd41	blood
36	chr8:115690400-115690800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:115690600-115690800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:115690800-115691000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:115690800-115691400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:115691000-115691400	Enhancers	Colon Smooth Muscle	Colon
41	chr8:115691000-115691600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:115691200-115691600	Enhancers	Adipose Nuclei	Adipose
43	chr8:115691400-115692600	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:115691400-115692600	Enhancers	Fetal Stomach	stomach
45	chr8:115691400-115692800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:115691600-115692000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:115692400-115693000	Flanking Active TSS	Dnd41	blood
48	chr8:115692600-115693600	Enhancers	Colon Smooth Muscle	Colon
49	chr8:115693000-115694400	Enhancers	Dnd41	blood
50	chr8:115693800-115694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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