Variant report

Variant	nsv524618
Chromosome Location	chr8:108456805-108458582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108457328..108458028-chr8:108544558..108545071,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4114169	chr8:108456805-108456806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558101609	chr8:108456809-108456810	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112255184	chr8:108456824-108456825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574872482	chr8:108456857-108456858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559863269	chr8:108456903-108456904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543842323	chr8:108456951-108456952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185007438	chr8:108456965-108456966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77811769	chr8:108456970-108456971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189388987	chr8:108456978-108456979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181713643	chr8:108456990-108456991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560096456	chr8:108457063-108457064	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532398271	chr8:108457104-108457105	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4100190	chr8:108457115-108457116	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs59873067	chr8:108457116-108457117	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114916314	chr8:108457119-108457120	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531721370	chr8:108457208-108457209	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545388485	chr8:108457241-108457242	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186707532	chr8:108457244-108457245	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191602993	chr8:108457264-108457265	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150368801	chr8:108457282-108457283	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547936942	chr8:108457289-108457290	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs117443851	chr8:108457299-108457300	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539673443	chr8:108457347-108457348	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1654680	chr8:108457353-108457354	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570057063	chr8:108457384-108457385	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537448239	chr8:108457412-108457413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145108059	chr8:108457419-108457420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574431737	chr8:108457443-108457444	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527799179	chr8:108457529-108457530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539964197	chr8:108457551-108457552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553902498	chr8:108457553-108457554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576938381	chr8:108457562-108457563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546054367	chr8:108457573-108457574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373456291	chr8:108457646-108457647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531684233	chr8:108457648-108457649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542197582	chr8:108457683-108457684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149120712	chr8:108457735-108457736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527758996	chr8:108457744-108457745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547552458	chr8:108457751-108457752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17301273	chr8:108457792-108457793	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533343179	chr8:108457833-108457834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550010559	chr8:108457851-108457852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144753007	chr8:108457863-108457864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546413866	chr8:108457922-108457923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181280768	chr8:108457959-108457960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545616967	chr8:108458001-108458002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561039745	chr8:108458012-108458013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201779659	chr8:108458017-108458018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566639641	chr8:108458046-108458047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535334459	chr8:108458083-108458084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108450400-108457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:108450400-108469600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:108450400-108469800	Weak transcription	Psoas Muscle	Psoas
4	chr8:108452400-108459400	Weak transcription	Ovary	ovary
5	chr8:108452400-108467200	Weak transcription	Fetal Lung	lung
6	chr8:108452400-108468000	Weak transcription	Aorta	Aorta
7	chr8:108452800-108459800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:108454800-108458000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:108455000-108457600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:108455200-108458000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:108455400-108457400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:108455400-108457800	Enhancers	Osteobl	bone
13	chr8:108455400-108458000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:108455400-108458400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:108456000-108457000	Enhancers	HSMM	muscle
16	chr8:108456000-108457400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108456000-108457400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:108456000-108457600	Enhancers	NHDF-Ad	bronchial
19	chr8:108456000-108458000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:108456200-108457400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:108456200-108457400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:108456200-108457600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:108456200-108457600	Enhancers	NHLF	lung
24	chr8:108456200-108457800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:108456200-108458400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:108456400-108457600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:108456400-108457600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:108456400-108458000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:108456600-108457000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:108456600-108457000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:108456600-108457400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:108456600-108457400	Enhancers	Adipose Nuclei	Adipose
33	chr8:108456600-108457600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:108456600-108457600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:108456800-108457200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:108456800-108458200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:108456800-108459000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:108456800-108459400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:108456800-108459600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:108456800-108462400	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:108457000-108457400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:108457000-108457600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:108457000-108461200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:108457200-108457400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:108457400-108457600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr8:108457400-108457600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:108457400-108459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:108457400-108461000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:108457400-108461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:108457400-108467200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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