Variant report

Variant	nsv1034798
Chromosome Location	chr8:126179383-126241525
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:95)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:126233946..126236339-chr8:126236823..126239784,3	K562	blood:
2	chr8:125322529..125324874-chr8:126203230..126205002,2	K562	blood:
3	chr8:126222391..126224423-chr8:126237932..126240192,2	MCF-7	breast:
4	chr8:126188966..126191727-chr8:126193252..126196746,4	MCF-7	breast:
5	chr8:126184359..126187803-chr8:126204598..126207522,3	K562	blood:
6	chr8:126192451..126194569-chr8:126196843..126198953,2	MCF-7	breast:
7	chr8:126222075..126223796-chr8:126224521..126227219,2	K562	blood:
8	chr8:126215979..126218498-chr8:126219244..126222199,2	K562	blood:
9	chr8:126225448..126228099-chr8:126228742..126231681,2	K562	blood:
10	chr8:126213738..126215975-chr8:126217898..126220188,2	K562	blood:
11	chr8:126240073..126242542-chr8:126442381..126444046,2	K562	blood:
12	chr8:126216916..126218455-chr8:126221973..126223868,2	K562	blood:
13	chr8:126198688..126200568-chr8:126203635..126206517,2	K562	blood:
14	chr8:126198558..126200941-chr8:126203635..126206340,3	K562	blood:
15	chr8:126183828..126186606-chr8:126190098..126191640,2	MCF-7	breast:
16	chr8:126178763..126181013-chr8:126182364..126184931,3	MCF-7	breast:
17	chr8:126192440..126194521-chr8:126198812..126200912,2	K562	blood:
18	chr8:126191466..126196398-chr8:126202580..126205039,4	K562	blood:
19	chr1:875400..877590-chr8:126185955..126188744,2	K562	blood:
20	chr8:126175201..126177309-chr8:126182431..126184742,3	K562	blood:
21	chr8:126182582..126184381-chr8:126186885..126189550,2	K562	blood:
22	chr8:126213750..126216257-chr8:126224237..126226330,2	MCF-7	breast:
23	chr8:126215979..126218498-chr8:126219244..126222199,2	K562	blood:
24	chr8:126225448..126228099-chr8:126228742..126231681,2	K562	blood:
25	chr8:126241249..126243357-chr8:126435233..126437414,2	MCF-7	breast:
26	chr8:126231336..126233903-chr8:126235720..126238496,3	MCF-7	breast:
27	chr8:126233946..126236339-chr8:126236823..126239784,3	K562	blood:
28	chr8:126196220..126198345-chr8:126215169..126217296,2	K562	blood:
29	chr8:126216916..126218455-chr8:126221973..126223868,2	K562	blood:
30	chr8:126184530..126188708-chr8:126189850..126192758,4	MCF-7	breast:
31	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
32	chr8:126218358..126220845-chr8:126354499..126357060,2	K562	blood:
33	chr8:126240954..126245383-chr8:126440692..126445687,11	MCF-7	breast:
34	chr8:126222075..126223796-chr8:126224521..126227219,2	K562	blood:
35	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
36	chr8:126235461..126238167-chr8:126248077..126250279,2	K562	blood:
37	chr8:126198688..126200568-chr8:126203635..126206517,2	K562	blood:
38	chr8:126204575..126206211-chr8:126217254..126218910,2	K562	blood:
39	chr8:126178763..126181013-chr8:126182364..126184931,3	MCF-7	breast:
40	chr8:126233908..126235977-chr8:126236439..126238651,2	MCF-7	breast:
41	chr8:126101602..126103969-chr8:126231664..126234229,2	K562	blood:
42	chr8:126188966..126191727-chr8:126193252..126196746,4	MCF-7	breast:
43	chr8:126217433..126218974-chr8:126675802..126677421,2	MCF-7	breast:
44	chr8:126238065..126239621-chr8:126240641..126243197,2	MCF-7	breast:
45	chr8:126191655..126193648-chr8:126438129..126439880,2	MCF-7	breast:
46	chr8:126220533..126222567-chr8:126439831..126443470,5	MCF-7	breast:
47	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:
48	chr8:126192451..126194569-chr8:126196843..126198953,2	MCF-7	breast:
49	chr8:126182582..126184381-chr8:126186885..126189550,2	K562	blood:
50	chr8:126233282..126235149-chr8:126318935..126321777,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000187634	chromatin interactions
ENSG00000156831	chromatin interactions

Extended variants
information (count: 2309 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:2309 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542597610	chr8:126179386-126179387	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562799611	chr8:126179406-126179407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576358741	chr8:126179463-126179464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544628136	chr8:126179466-126179467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564438803	chr8:126179484-126179485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533487033	chr8:126179601-126179602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139880511	chr8:126179605-126179606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186640720	chr8:126179631-126179632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191479920	chr8:126179633-126179634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549457119	chr8:126179635-126179636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576289132	chr8:126179640-126179641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540516506	chr8:126179679-126179680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569533565	chr8:126179759-126179760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181122100	chr8:126179761-126179762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372132000	chr8:126179770-126179771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550986285	chr8:126179790-126179791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570892035	chr8:126179809-126179810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13263406	chr8:126179870-126179871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs118097749	chr8:126179880-126179881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185089808	chr8:126179887-126179888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149827041	chr8:126179919-126179920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556045414	chr8:126179929-126179930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116440547	chr8:126179939-126179940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551285529	chr8:126179962-126179963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545294407	chr8:126179969-126179970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113680431	chr8:126180006-126180007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558211253	chr8:126180013-126180014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117807542	chr8:126180044-126180045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189896455	chr8:126180061-126180062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550327367	chr8:126180062-126180063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560630758	chr8:126180080-126180081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529320713	chr8:126180252-126180253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17401283	chr8:126180331-126180332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144820305	chr8:126180339-126180340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73348195	chr8:126180361-126180362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577001374	chr8:126180363-126180364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187879946	chr8:126180369-126180370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527288620	chr8:126180374-126180375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148590752	chr8:126180404-126180405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191885721	chr8:126180446-126180447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145689589	chr8:126180476-126180477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556345383	chr8:126180496-126180497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72720553	chr8:126180581-126180582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538967916	chr8:126180588-126180589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183750810	chr8:126180645-126180646	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147663277	chr8:126180662-126180663	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73348196	chr8:126180685-126180686	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74570397	chr8:126180769-126180770	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574093061	chr8:126180784-126180785	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566851083	chr8:126180825-126180826	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

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
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
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD
Glioma	20126413	CNVD

Chromatin state (count:1940 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126156600-126185400	Weak transcription	Lung	lung
13	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:126158600-126180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:126158600-126185400	Weak transcription	Placenta	Placenta
18	chr8:126160600-126180400	Weak transcription	HUVEC	blood vessel
19	chr8:126160600-126181800	Weak transcription	Right Atrium	heart
20	chr8:126160600-126185400	Weak transcription	Aorta	Aorta
21	chr8:126160600-126187400	Weak transcription	Gastric	stomach
22	chr8:126162200-126186600	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:126162600-126183000	Weak transcription	Psoas Muscle	Psoas
24	chr8:126163200-126180600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:126163200-126193200	Weak transcription	Ovary	ovary
26	chr8:126163600-126180600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:126164000-126181800	Weak transcription	Fetal Lung	lung
28	chr8:126164200-126185200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:126164200-126185400	Weak transcription	HSMMtube	muscle
30	chr8:126164400-126179400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:126164400-126180400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:126164400-126181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:126164400-126186000	Weak transcription	NH-A	brain
34	chr8:126164600-126180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:126164600-126186000	Weak transcription	HSMM	muscle
36	chr8:126164800-126186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:126165000-126180400	Weak transcription	NHEK	skin
38	chr8:126165000-126180600	Weak transcription	HMEC	breast
39	chr8:126166000-126200200	Weak transcription	Dnd41	blood
40	chr8:126167000-126187000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:126169800-126187200	Weak transcription	Colonic Mucosa	Colon
43	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:126171200-126183600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:126171800-126180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:126171800-126181800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:126172000-126187000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
50	chr8:126172800-126180400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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