Variant report

Variant	nsv891326
Chromosome Location	chr8:113777669-114091732
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:0)
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	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:
2	chr8:113812991..113814473-chr8:114449636..114450437,5	MCF-7	breast:
3	chr8:114019427..114021246-chr8:114025016..114027910,2	K562	blood:
4	chr8:113774348..113777140-chr8:114064225..114066718,2	K562	blood:
5	chr8:113813041..113814009-chr8:114183692..114184450,5	MCF-7	breast:
6	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
7	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
8	chr8:114079186..114080710-chr8:114084820..114087800,2	K562	blood:
9	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
10	chr8:114079186..114080710-chr8:114084820..114087800,2	K562	blood:
11	chr8:113812932..113813631-chr8:114183972..114184626,2	MCF-7	breast:
12	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:
13	chr8:114086615..114089579-chr8:114091376..114092962,2	MCF-7	breast:
14	chr8:114086615..114089579-chr8:114091376..114092962,2	MCF-7	breast:
15	chr8:113882423..113884756-chr8:114016772..114018870,2	K562	blood:
16	chr3:185653287..185655288-chr8:113877614..113879705,2	MCF-7	breast:
17	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
18	chr8:113882423..113884756-chr8:114016772..114018870,2	K562	blood:
19	chr8:114019427..114021246-chr8:114025016..114027910,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136527	chromatin interactions

Extended variants
information (count: 3533 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3533 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1159046	chr8:113777669-113777670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546488940	chr8:113777671-113777672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148411704	chr8:113777689-113777690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556896152	chr8:113777699-113777700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554188543	chr8:113777705-113777706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114459146	chr8:113777716-113777717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574043477	chr8:113777733-113777734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542282796	chr8:113777739-113777740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192293768	chr8:113777752-113777753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16884086	chr8:113777778-113777779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541185130	chr8:113777789-113777790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564281357	chr8:113777849-113777850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377364406	chr8:113777856-113777857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532963345	chr8:113777867-113777868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549624471	chr8:113777895-113777896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563285278	chr8:113777909-113777910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116115846	chr8:113777942-113777943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548989733	chr8:113777999-113778000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147973929	chr8:113778028-113778029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534680167	chr8:113778062-113778063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551208710	chr8:113778080-113778081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571007632	chr8:113778151-113778152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540044819	chr8:113778166-113778167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556883857	chr8:113778210-113778211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141638814	chr8:113778215-113778216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150525867	chr8:113778245-113778246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555919893	chr8:113778290-113778291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555700344	chr8:113778310-113778311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572372777	chr8:113778335-113778336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541468432	chr8:113778357-113778358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575845915	chr8:113778407-113778408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564250324	chr8:113778522-113778523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140408116	chr8:113778525-113778526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200447432	chr8:113778532-113778533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184779195	chr8:113778533-113778534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75086886	chr8:113778542-113778543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547295861	chr8:113778613-113778614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12677225	chr8:113778620-113778621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564837645	chr8:113778630-113778631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189641524	chr8:113778654-113778655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192552847	chr8:113778674-113778675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572349560	chr8:113778763-113778764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551109963	chr8:113778776-113778777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367730997	chr8:113778793-113778794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144358472	chr8:113778830-113778831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184358088	chr8:113778839-113778840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189636942	chr8:113778929-113778930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551413343	chr8:113779044-113779045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs147401669	chr8:113779061-113779062	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs540032667	chr8:113779073-113779074	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Cancer	20164919	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
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD
Renal cell carcinoma	21215367	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113773200-113783400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:113773400-113783400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:113773600-113783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:113774200-113783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:113778800-113779200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:113779000-113779200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:113779200-113783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:113783400-113783600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:113783400-113784000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:113783400-113784200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:113783400-113784400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:113783400-113784400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:113783400-113785400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:113783400-113788400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:113783800-113784200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:113783800-113785200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:113784000-113784800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:113784200-113784400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:113784200-113784600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:113784200-113786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:113784400-113784800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:113784400-113784800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:113784400-113784800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:113784600-113785200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:113784800-113785200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:113784800-113785400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:113784800-113787000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:113784800-113787200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:113785200-113785400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:113785200-113785400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:113785200-113785600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:113785400-113785600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:113785400-113785600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:113785400-113787400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:113785600-113786400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:113785600-113788200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:113785600-113789000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:113786400-113786600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:113786400-113787600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:113786600-113787000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:113787000-113787400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:113787000-113788000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:113787600-113788600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:113788000-113788200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:113788000-113788200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:113788200-113788400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:113792800-113793000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:113812400-113812800	Enhancers	Fetal Intestine Small	intestine
49	chr8:113812800-113813400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:113813000-113813600	Enhancers	Brain Cingulate Gyrus	brain

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