Variant report

Variant	nsv1019986
Chromosome Location	chr8:90570309-90628648
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:19)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87713968..87715831-chr8:90615267..90617535,2	K562	blood:
2	chr8:90270487..90271274-chr8:90627944..90628605,2	MCF-7	breast:
3	chr8:90613823..90615408-chr8:90662744..90664750,2	MCF-7	breast:
4	chr8:90627324..90629190-chr8:90732562..90735490,2	MCF-7	breast:
5	chr8:90579098..90579926-chr8:90624854..90625740,2	MCF-7	breast:
6	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
7	chr8:90580330..90583016-chr8:90584267..90585810,2	MCF-7	breast:
8	chr8:90580330..90583016-chr8:90584267..90585810,2	MCF-7	breast:
9	chr8:90579098..90579926-chr8:90624854..90625740,2	MCF-7	breast:
10	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
11	chr8:90617470..90619221-chr8:90620152..90623030,2	K562	blood:
12	chr8:90497830..90499463-chr8:90622312..90625050,2	MCF-7	breast:
13	chr8:90576363..90578196-chr8:90582814..90584387,2	MCF-7	breast:
14	chr8:90355900..90357965-chr8:90616064..90618024,2	MCF-7	breast:
15	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
16	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
17	chr1:11967266..11970144-chr8:90594461..90596817,2	K562	blood:
18	chr8:90617470..90619221-chr8:90620152..90623030,2	K562	blood:
19	chr8:90576363..90578196-chr8:90582814..90584387,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBN-1	chr8:90621638-90621723	ENSG00000251136.4
2	lnc-NBN-1	chr8:90608315-90608741	NONHSAT127610
3	lnc-NBN-1	chr8:90627412-90627534	ENSG00000251136
4	lnc-NBN-1	chr8:90623585-90624218	ENSG00000251136
5	lnc-NBN-1	chr8:90627412-90627534	ENSG00000251136
6	lnc-NBN-1	chr8:90624013-90624218	ENSG00000251136
7	lnc-NBN-1	chr8:90621629-90621723	ENSG00000251136
8	lnc-NBN-1	chr8:90623663-90623699	ENSG00000251136
9	lnc-NBN-1	chr8:90627412-90627568	NONHSAT127613
10	lnc-RIPK2-2	chr8:90627189-90627723	NONHSAT127614
11	lnc-NBN-1	chr8:90623631-90624218	NONHSAT127613
12	lnc-NBN-1	chr8:90627412-90627534	ENSG00000251136.4
13	lnc-NBN-1	chr8:90623663-90623699	ENSG00000251136.4
14	lnc-NBN-1	chr8:90624013-90624218	ENSG00000251136.4

No data

Variant related genes	Relation type
ENSG00000199347	chromatin interactions
ENSG00000251136	chromatin interactions
ENSG00000201801	chromatin interactions
NCOA3	miRNA target sites
EIF4G3	miRNA target sites
NAPEPLD	miRNA target sites
MORF4L2	miRNA target sites
MFHAS1	miRNA target sites

Extended variants
information (count: 2174 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2174 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4563939	chr8:90570309-90570310	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564959751	chr8:90570331-90570332	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369148264	chr8:90570361-90570362	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543251218	chr8:90570365-90570366	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532358868	chr8:90570394-90570395	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547243976	chr8:90570396-90570397	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79439962	chr8:90570429-90570430	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372896438	chr8:90570480-90570481	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138064412	chr8:90570506-90570507	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368248392	chr8:90570518-90570519	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181834403	chr8:90570525-90570526	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145946612	chr8:90570536-90570537	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371313681	chr8:90570541-90570542	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs185046719	chr8:90570562-90570563	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537379045	chr8:90570582-90570583	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188247729	chr8:90570585-90570586	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs181053224	chr8:90570604-90570605	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149513769	chr8:90570628-90570629	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186089694	chr8:90570637-90570638	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535235200	chr8:90570669-90570670	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73696348	chr8:90570680-90570681	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148226906	chr8:90570691-90570692	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142745150	chr8:90570701-90570702	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7844045	chr8:90570707-90570708	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575687911	chr8:90570712-90570713	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs367805283	chr8:90570727-90570728	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs398047344	chr8:90570732-90570733	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76816767	chr8:90570733-90570734	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79812151	chr8:90570749-90570750	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs386413314	chr8:90570750-90570751	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs398008697	chr8:90570751-90570752	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371389995	chr8:90570758-90570759	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79914197	chr8:90570771-90570772	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532267461	chr8:90570808-90570809	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540480515	chr8:90570827-90570828	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75264354	chr8:90570887-90570888	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559121911	chr8:90570919-90570920	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115621138	chr8:90570987-90570988	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372616625	chr8:90570998-90570999	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191009595	chr8:90571005-90571006	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569336053	chr8:90571023-90571024	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537070121	chr8:90571030-90571031	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551850953	chr8:90571037-90571038	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs571133206	chr8:90571085-90571086	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181425018	chr8:90571091-90571092	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553578381	chr8:90571095-90571096	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369067516	chr8:90571122-90571123	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185744443	chr8:90571140-90571141	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28636728	chr8:90571148-90571149	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373894099	chr8:90571155-90571156	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90559800-90571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90570200-90570400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:90570200-90570400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:90570200-90570400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:90570200-90570600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:90570200-90570600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr8:90570200-90570600	Enhancers	HepG2	liver
8	chr8:90570200-90571400	Enhancers	Fetal Intestine Large	intestine
9	chr8:90570200-90571400	Enhancers	Fetal Intestine Small	intestine
10	chr8:90570200-90571400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:90570400-90570600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:90570400-90570600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:90570400-90571200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:90570600-90570800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:90570600-90570800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:90570600-90571600	Weak transcription	HepG2	liver
17	chr8:90570600-90571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:90570800-90571000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:90571000-90571200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr8:90571000-90572400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:90571000-90572600	Enhancers	HMEC	breast
22	chr8:90571200-90572400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:90571400-90572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:90571400-90572800	Enhancers	NHEK	skin
25	chr8:90571600-90573000	Enhancers	HepG2	liver
26	chr8:90571800-90572600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:90572400-90572600	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:90572400-90574400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:90572400-90574800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:90572600-90572800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:90572600-90573800	Weak transcription	HMEC	breast
32	chr8:90572600-90574800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:90572800-90574600	Weak transcription	NHEK	skin
34	chr8:90572800-90579800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:90573200-90573800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:90573200-90573800	Enhancers	GM12878-XiMat	blood
37	chr8:90573600-90573800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:90573600-90574200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:90573600-90576600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:90573800-90574800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:90573800-90575800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:90573800-90576400	Enhancers	HMEC	breast
43	chr8:90574200-90574600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:90574400-90576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:90574600-90576200	Enhancers	NHEK	skin
46	chr8:90574600-90576600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:90574800-90575600	Enhancers	Osteobl	bone
48	chr8:90574800-90575800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:90574800-90576200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:90574800-90576200	Enhancers	Muscle Satellite Cultured Cells	--

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