Variant report

Variant	nsv1034015
Chromosome Location	chr8:117790928-117843979
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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:117823218..117824824-chr8:117826875..117829516,2	K562	blood:
2	chr8:117804606..117806220-chr8:117812796..117814658,2	K562	blood:
3	chr8:117838823..117840466-chr8:117846807..117849980,3	K562	blood:
4	chr8:117810889..117812580-chr8:117813438..117815076,2	MCF-7	breast:
5	chr8:117821087..117823936-chr8:117828583..117831214,3	K562	blood:
6	chr8:117808270..117811367-chr8:117813434..117817059,3	K562	blood:
7	chr8:117817843..117820763-chr8:117886036..117887670,2	K562	blood:
8	chr8:117778464..117780161-chr8:117803069..117805763,2	MCF-7	breast:
9	chr8:117795253..117798191-chr8:117798844..117800835,2	MCF-7	breast:
10	chr8:117800330..117801289-chr8:117847893..117848821,6	MCF-7	breast:
11	chr8:117813053..117814950-chr8:117817591..117820100,2	K562	blood:
12	chr8:117800316..117801323-chr8:117899498..117900404,4	MCF-7	breast:
13	chr8:117810564..117812645-chr8:117885159..117887424,2	MCF-7	breast:
14	chr8:117813605..117816569-chr8:117845773..117847387,2	MCF-7	breast:
15	chr8:117796423..117798926-chr8:117885716..117888098,2	MCF-7	breast:
16	chr8:117777170..117780620-chr8:117796819..117800080,3	K562	blood:
17	chr8:117836448..117838842-chr8:117853404..117855455,2	K562	blood:
18	chr8:117778319..117780023-chr8:117839044..117840900,2	MCF-7	breast:
19	chr8:117784066..117787028-chr8:117794164..117796661,2	MCF-7	breast:
20	chr8:117800316..117801212-chr8:117852987..117854119,8	MCF-7	breast:
21	chr8:117801485..117803736-chr8:117805253..117808179,2	MCF-7	breast:
22	chr8:117827651..117829253-chr8:117830596..117833306,2	K562	blood:
23	chr8:117808270..117811367-chr8:117813434..117817059,3	K562	blood:
24	chr8:117800389..117801053-chr8:118056632..118057180,2	K562	blood:
25	chr8:117823218..117824824-chr8:117826875..117829516,2	K562	blood:
26	chr8:117804720..117807505-chr8:117812796..117815488,2	K562	blood:
27	chr8:117798759..117799449-chr8:118050248..118050771,2	K562	blood:
28	chr8:117778179..117780228-chr8:117839253..117841189,2	K562	blood:
29	chr8:117778457..117780615-chr8:117800486..117802167,2	K562	blood:
30	chr8:117785412..117790239-chr8:117790613..117794443,6	K562	blood:
31	chr8:117800302..117801274-chr8:117854345..117854896,2	MCF-7	breast:
32	chr8:117827651..117829253-chr8:117830596..117833306,2	K562	blood:
33	chr8:117811284..117813139-chr8:117815400..117817574,2	K562	blood:
34	chr8:117826003..117827747-chr8:117921958..117923846,2	K562	blood:
35	chr8:117798017..117801805-chr8:117813902..117817416,4	MCF-7	breast:
36	chr8:117778754..117781084-chr8:117789380..117792038,3	K562	blood:
37	chr8:117800325..117801249-chr8:117852174..117853913,9	MCF-7	breast:
38	chr8:117808270..117810364-chr8:117813434..117815653,2	K562	blood:
39	chr8:117800285..117800916-chr8:117847856..117848755,3	MCF-7	breast:
40	chr8:117804606..117806220-chr8:117812796..117814658,2	K562	blood:
41	chr8:117813053..117814950-chr8:117817591..117820100,2	K562	blood:
42	chr8:117800465..117801656-chr8:117899442..117900372,5	K562	blood:
43	chr8:117795253..117798191-chr8:117798844..117800835,2	MCF-7	breast:
44	chr4:6732595..6734215-chr8:117816067..117817588,2	K562	blood:
45	chr8:117810889..117812580-chr8:117813438..117815076,2	MCF-7	breast:
46	chr8:117808270..117810364-chr8:117813434..117815653,2	K562	blood:
47	chr8:117801485..117803736-chr8:117805253..117808179,2	MCF-7	breast:
48	chr8:117804720..117807505-chr8:117812796..117815488,2	K562	blood:
49	chr8:117821087..117823936-chr8:117828583..117831214,3	K562	blood:
50	chr8:117812604..117814954-chr8:117885470..117887763,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164754	chromatin interactions
ENSG00000147677	chromatin interactions
ENSG00000147679	chromatin interactions
ENSG00000264875	chromatin interactions

Extended variants
information (count: 1842 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181997045	chr8:117790979-117790980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187142744	chr8:117790996-117790997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190510968	chr8:117791007-117791008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140294262	chr8:117791024-117791025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181813671	chr8:117791089-117791090	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557401565	chr8:117791093-117791094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576204041	chr8:117791096-117791097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551630695	chr8:117791139-117791140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567450017	chr8:117791213-117791214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543593919	chr8:117791253-117791254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558426256	chr8:117791255-117791256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186788375	chr8:117791268-117791269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540893624	chr8:117791302-117791303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34283289	chr8:117791325-117791326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144309738	chr8:117791330-117791331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190146599	chr8:117791380-117791381	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35338453	chr8:117791493-117791494	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs979867	chr8:117791502-117791503	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182500627	chr8:117791507-117791508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185258939	chr8:117791525-117791526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs13277714	chr8:117791528-117791529	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528808300	chr8:117791532-117791533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558628516	chr8:117791589-117791590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547297668	chr8:117791650-117791651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567206637	chr8:117791657-117791658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs80023072	chr8:117791663-117791664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116874839	chr8:117791701-117791702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs979866	chr8:117791733-117791734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189631891	chr8:117791757-117791758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569342923	chr8:117791787-117791788	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375327729	chr8:117791796-117791797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539500915	chr8:117791804-117791805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558350856	chr8:117791829-117791830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374960301	chr8:117791834-117791835	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368986689	chr8:117791860-117791861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs534631977	chr8:117791871-117791872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552844915	chr8:117791922-117791923	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574135731	chr8:117791979-117791980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs147787189	chr8:117792016-117792017	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534955084	chr8:117792092-117792093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141352158	chr8:117792199-117792200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200744770	chr8:117792204-117792205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs921066	chr8:117792216-117792217	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572251286	chr8:117792247-117792248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528673157	chr8:117792262-117792263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182667491	chr8:117792288-117792289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562358255	chr8:117792341-117792342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529520376	chr8:117792436-117792437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188864077	chr8:117792490-117792491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569128350	chr8:117792496-117792497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117779800-117794600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:117780000-117795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:117780400-117796000	Weak transcription	Lung	lung
6	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
7	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
8	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
9	chr8:117780600-117793400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:117780600-117796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:117780600-117800600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:117780600-117800600	Weak transcription	Psoas Muscle	Psoas
13	chr8:117780600-117800800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:117780600-117800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:117780600-117800800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:117780600-117802200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:117781600-117792600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:117781800-117793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:117782000-117791600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:117782000-117814000	Weak transcription	Ovary	ovary
21	chr8:117782200-117791200	Weak transcription	NHEK	skin
22	chr8:117783400-117793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:117783400-117796800	Weak transcription	HMEC	breast
24	chr8:117783800-117793200	Weak transcription	Fetal Brain Female	brain
25	chr8:117784000-117795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:117784000-117796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:117784000-117800600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:117784200-117795000	Weak transcription	HepG2	liver
29	chr8:117784400-117791800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:117784400-117800800	Weak transcription	Fetal Lung	lung
31	chr8:117784600-117800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:117784600-117804800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:117784800-117794800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:117784800-117798800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:117785400-117792000	Weak transcription	Osteobl	bone
36	chr8:117785400-117794600	Weak transcription	Fetal Kidney	kidney
37	chr8:117785400-117795200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:117785400-117795600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:117785400-117795800	Weak transcription	Fetal Brain Male	brain
40	chr8:117785400-117800600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:117785400-117800800	Weak transcription	Liver	Liver
42	chr8:117785400-117800800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:117785400-117801200	Weak transcription	Left Ventricle	heart
44	chr8:117785600-117792000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:117785600-117795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:117785600-117796600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:117785600-117797200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:117785600-117798400	Weak transcription	GM12878-XiMat	blood
49	chr8:117785800-117792200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:117785800-117795400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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