Variant report

Variant	nsv1022357
Chromosome Location	chr8:116162223-116198759
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:116190725..116192914-chr8:116198284..116200263,2	MCF-7	breast:
2	chr8:116189123..116190832-chr8:116191292..116193728,2	K562	blood:
3	chr8:116197204..116199535-chr8:116202002..116204083,2	MCF-7	breast:
4	chr8:116174286..116176011-chr8:116178568..116180525,2	MCF-7	breast:
5	chr8:116174286..116176011-chr8:116178568..116180525,2	MCF-7	breast:
6	chr8:116197006..116199326-chr8:116204502..116206471,3	MCF-7	breast:
7	chr8:116189123..116190832-chr8:116191292..116193728,2	K562	blood:
8	chr8:116197091..116200038-chr8:116201920..116204912,2	MCF-7	breast:
9	chr8:116190725..116192914-chr8:116198284..116200263,2	MCF-7	breast:

No data

Extended variants
information (count: 1256 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139924278	chr8:116166050-116166051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534830851	chr8:116166092-116166093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16887028	chr8:116166199-116166200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182634854	chr8:116166200-116166201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368240527	chr8:116166210-116166211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186920450	chr8:116166219-116166220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190691842	chr8:116166225-116166226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573544799	chr8:116166302-116166303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557383043	chr8:116166304-116166305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149851051	chr8:116166340-116166341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542378307	chr8:116166378-116166379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546394846	chr8:116166396-116166397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558433087	chr8:116166402-116166403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16887033	chr8:116166404-116166405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541133107	chr8:116166435-116166436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146863953	chr8:116166442-116166443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531136590	chr8:116166500-116166501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140722351	chr8:116166535-116166536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551185734	chr8:116166542-116166543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541845348	chr8:116166556-116166557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563415046	chr8:116166560-116166561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140811798	chr8:116166569-116166570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567155786	chr8:116166572-116166573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184127800	chr8:116166595-116166596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551943359	chr8:116166611-116166612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570321826	chr8:116166691-116166692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373885786	chr8:116166724-116166725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528517949	chr8:116166846-116166847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546709280	chr8:116166847-116166848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28366679	chr8:116166863-116166864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188638771	chr8:116166864-116166865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557349852	chr8:116166911-116166912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112393152	chr8:116166940-116166941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540148494	chr8:116166953-116166954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146429437	chr8:116166999-116167000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534183628	chr8:116167020-116167021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564817262	chr8:116167062-116167063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573500816	chr8:116167124-116167125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534672702	chr8:116167152-116167153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552778293	chr8:116167155-116167156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369359712	chr8:116167175-116167176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574503903	chr8:116167214-116167215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541456820	chr8:116167242-116167243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7839664	chr8:116167282-116167283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7821291	chr8:116167301-116167302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs7839687	chr8:116167318-116167319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563909886	chr8:116167337-116167338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149052804	chr8:116167341-116167342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193157831	chr8:116167343-116167344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368629877	chr8:116167363-116167364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116166000-116167200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:116166400-116167200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:116166600-116167200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr8:116166600-116167200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:116166600-116167400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:116166600-116167400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:116166600-116167400	Enhancers	HMEC	breast
8	chr8:116166600-116167600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:116166800-116167200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:116166800-116167200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:116166800-116167200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:116166800-116167200	Enhancers	Gastric	stomach
13	chr8:116166800-116167400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:116166800-116167400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:116166800-116167600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:116167000-116167200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:116167000-116167200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:116167200-116168200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:116167200-116168400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:116167200-116168600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:116167200-116169200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:116167200-116169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:116167200-116170200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:116167200-116171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:116167200-116172000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:116167400-116168600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:116167400-116168800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:116167600-116179600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:116168200-116169600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:116168400-116170600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:116168600-116169600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:116168600-116170600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:116168800-116169200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:116169200-116169400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:116169200-116169600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:116169200-116170000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:116169200-116171000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:116169400-116169600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:116169400-116170000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:116169400-116170600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:116169600-116169800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:116169600-116170000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:116169600-116170000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr8:116169600-116170200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:116169800-116170600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:116170000-116170400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:116170000-116170600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:116170000-116170600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:116170000-116170600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr8:116170200-116170400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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