Variant report

Variant	nsv517427
Chromosome Location	chr8:125749707-125766271
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125762504..125764135-chr8:125782972..125785027,2	MCF-7	breast:
2	chr8:125750583..125752595-chr8:125760050..125762806,2	K562	blood:
3	chr8:125763897..125765849-chr8:125769752..125772149,2	K562	blood:
4	chr8:125739254..125742365-chr8:125764886..125767870,3	MCF-7	breast:
5	chr8:125751576..125753119-chr8:125754133..125756960,2	MCF-7	breast:
6	chr8:125746869..125748730-chr8:125750300..125752652,2	MCF-7	breast:
7	chr8:125760489..125763327-chr8:125826229..125828714,2	K562	blood:
8	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
9	chr8:125763544..125764471-chr8:125936648..125937472,2	MCF-7	breast:
10	chr8:125764175..125766325-chr8:125793674..125795274,2	MCF-7	breast:
11	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:
12	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
13	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
14	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
15	chr8:125751576..125753119-chr8:125754133..125756960,2	MCF-7	breast:
16	chr8:125739315..125742031-chr8:125763198..125766273,5	MCF-7	breast:
17	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:
18	chr8:125751777..125754549-chr8:125954629..125956948,2	MCF-7	breast:
19	chr8:125549640..125552383-chr8:125762856..125765386,2	MCF-7	breast:
20	chr8:125764622..125767055-chr8:125770955..125773906,2	MCF-7	breast:
21	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
22	chr8:125739372..125742267-chr8:125758626..125761632,3	MCF-7	breast:
23	chr8:125761135..125763441-chr8:126050388..126052207,2	K562	blood:
24	chr8:125763903..125766789-chr8:125789661..125792585,3	MCF-7	breast:
25	chr8:125750583..125752595-chr8:125760050..125762806,2	K562	blood:
26	chr8:125758805..125762963-chr8:125825866..125829295,4	K562	blood:
27	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
28	chr8:125755220..125757743-chr8:125826134..125827699,2	MCF-7	breast:
29	chr8:125739173..125741254-chr8:125752938..125754692,2	MCF-7	breast:
30	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
31	chr8:125603844..125606366-chr8:125762681..125764828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255313	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000249816	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000170873	chromatin interactions
ENSG00000255491	chromatin interactions

Extended variants
information (count: 725 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10956203	chr8:125749707-125749708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145807911	chr8:125749710-125749711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564584600	chr8:125749727-125749728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200772513	chr8:125749744-125749745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142747474	chr8:125749753-125749754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550011373	chr8:125749755-125749756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191950922	chr8:125749757-125749758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184463726	chr8:125749760-125749761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62528795	chr8:125749772-125749773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12682012	chr8:125749775-125749776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549423028	chr8:125749802-125749803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568469257	chr8:125749861-125749862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188524896	chr8:125749900-125749901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566164866	chr8:125749928-125749929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139703088	chr8:125749936-125749937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577352904	chr8:125749952-125749953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533726657	chr8:125750031-125750032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78679967	chr8:125750048-125750049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7000805	chr8:125750063-125750064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12680528	chr8:125750079-125750080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35510185	chr8:125750170-125750171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376679637	chr8:125750171-125750172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376135281	chr8:125750180-125750181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191842208	chr8:125750202-125750203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533510040	chr8:125750296-125750297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7001166	chr8:125750300-125750301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7001314	chr8:125750310-125750311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200305909	chr8:125750347-125750348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60184954	chr8:125750348-125750349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184910048	chr8:125750350-125750351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569226182	chr8:125750357-125750358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35345389	chr8:125750358-125750359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs199531303	chr8:125750366-125750367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188974633	chr8:125750385-125750386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571006907	chr8:125750391-125750392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140497856	chr8:125750404-125750405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553588071	chr8:125750427-125750428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71576749	chr8:125750448-125750449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550372803	chr8:125750449-125750450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59468535	chr8:125750468-125750469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs60477946	chr8:125750470-125750471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567426180	chr8:125750474-125750475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6983655	chr8:125750505-125750506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180987158	chr8:125750509-125750510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10113303	chr8:125750569-125750570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544612174	chr8:125750659-125750660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558225729	chr8:125750665-125750666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150440634	chr8:125750695-125750696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540678790	chr8:125750716-125750717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560407339	chr8:125750831-125750832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	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	17603634	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
Acute myeloid leukemia	20729466	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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125748400-125749800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:125748600-125749800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:125748600-125751600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:125748600-125751600	Weak transcription	Gastric	stomach
5	chr8:125749000-125753400	Weak transcription	K562	blood
6	chr8:125749200-125750400	Weak transcription	Psoas Muscle	Psoas
7	chr8:125749800-125750600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:125749800-125750600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:125750400-125750800	Enhancers	Psoas Muscle	Psoas
10	chr8:125750400-125752400	Enhancers	HepG2	liver
11	chr8:125750600-125750800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:125750600-125750800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:125750600-125753600	Enhancers	Liver	Liver
14	chr8:125751400-125752200	Enhancers	Stomach Mucosa	stomach
15	chr8:125751600-125752000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:125751600-125752000	Enhancers	Gastric	stomach
17	chr8:125752000-125752200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:125752000-125752200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:125752000-125752400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:125752000-125753400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:125752200-125752400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:125752200-125752600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:125752200-125753000	Weak transcription	Stomach Mucosa	stomach
24	chr8:125752400-125753800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:125752400-125753800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:125752400-125754000	Weak transcription	HepG2	liver
27	chr8:125752600-125753400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:125752800-125753200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:125752800-125756200	Enhancers	Fetal Intestine Small	intestine
30	chr8:125753000-125753200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:125753000-125754200	Enhancers	Fetal Stomach	stomach
32	chr8:125753000-125755600	Enhancers	Stomach Mucosa	stomach
33	chr8:125753200-125755200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:125753400-125753800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:125753400-125753800	Enhancers	K562	blood
36	chr8:125753400-125754600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:125753600-125754600	Weak transcription	Liver	Liver
38	chr8:125753800-125754000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:125753800-125754400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:125753800-125754600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:125753800-125754600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:125754000-125754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:125754000-125755200	Enhancers	HepG2	liver
44	chr8:125754000-125756200	Enhancers	Fetal Intestine Large	intestine
45	chr8:125754200-125755400	Weak transcription	Fetal Stomach	stomach
46	chr8:125754600-125755200	Enhancers	Liver	Liver
47	chr8:125754800-125755000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:125755000-125756000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:125755000-125756000	Enhancers	Pancreas	Pancrea
50	chr8:125755200-125755600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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