Variant report

Variant	nsv465765
Chromosome Location	chr8:112977379-113060632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:112976579..112977386-chr8:113471922..113472710,2	MCF-7	breast:
2	chr8:113057607..113060468-chr8:113062471..113064373,2	MCF-7	breast:
3	chr8:112976391..112977811-chr8:113408288..113409205,6	MCF-7	breast:
4	chr8:113036903..113039112-chr8:113145309..113148146,2	K562	blood:
5	chr8:112976625..112977471-chr8:114449676..114450374,2	MCF-7	breast:
6	chr8:112980405..112982694-chr8:112982938..112985443,2	MCF-7	breast:
7	chr8:112980405..112982694-chr8:112982938..112985443,2	MCF-7	breast:

Extended variants
information (count: 913 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1947675	chr8:112977379-112977380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1947676	chr8:112977387-112977388	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540846776	chr8:112977410-112977411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71528404	chr8:112977414-112977415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142866307	chr8:112977454-112977455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553888819	chr8:112977458-112977459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577040772	chr8:112977472-112977473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545481518	chr8:112977499-112977500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562548040	chr8:112977522-112977523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187118909	chr8:112977524-112977525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567173813	chr8:112977531-112977532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542062337	chr8:112977647-112977648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147624297	chr8:112977782-112977783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527447344	chr8:112977828-112977829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547220832	chr8:112977854-112977855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142147583	chr8:112977865-112977866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532686289	chr8:112977953-112977954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552277673	chr8:112977958-112977959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79139599	chr8:112977973-112977974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537875495	chr8:112977979-112977980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563173102	chr8:112977989-112977990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145908420	chr8:112978024-112978025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568805265	chr8:112978073-112978074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs716313	chr8:112978101-112978102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs716312	chr8:112978128-112978129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577007115	chr8:112978141-112978142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539481847	chr8:112978172-112978173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138718600	chr8:112978197-112978198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557864441	chr8:112978220-112978221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190053454	chr8:112978221-112978222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541474958	chr8:112978232-112978233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10505166	chr8:112978248-112978249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572035109	chr8:112978249-112978250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540823787	chr8:112978311-112978312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10505167	chr8:112978384-112978385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532989543	chr8:112978530-112978531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114777117	chr8:112978636-112978637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562859105	chr8:112978709-112978710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531717087	chr8:112978721-112978722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548630234	chr8:112978734-112978735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568768318	chr8:112978758-112978759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534541634	chr8:112978775-112978776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561502618	chr8:112986493-112986494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527484258	chr8:112986495-112986496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547041653	chr8:112986516-112986517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142204727	chr8:112986534-112986535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532521072	chr8:112986538-112986539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544433832	chr8:112986560-112986561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545325018	chr8:112986612-112986613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181816192	chr8:112986638-112986639	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112976000-112978800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:112976400-112977400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:112977000-112977400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:112977000-112977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:112977000-112978200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:112977000-112978200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:112977000-112978600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:112977200-112977600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:112977600-112978200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:112977800-112978000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:112986400-112987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:112986600-112987200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:112987000-112987400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:112992800-112993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:112993200-112993600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:112993600-112994200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:113003800-113006400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:113004000-113006400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:113005200-113005600	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:113006400-113011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:113006400-113011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:113007800-113009400	Enhancers	Fetal Lung	lung
23	chr8:113011200-113012000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:113011600-113013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:113011800-113013000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:113013000-113013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:113013800-113014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:113021200-113021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:113021400-113021600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:113021600-113024400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:113027600-113030600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:113028600-113029000	Active TSS	Fetal Heart	heart
33	chr8:113035000-113036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:113038600-113039000	Enhancers	HepG2	liver
35	chr8:113040600-113041000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:113044000-113046400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:113049200-113049800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:113049400-113050000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:113049600-113050400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:113049600-113050600	Enhancers	HUES48 Cell Line	embryonic stem cell

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