Variant report

Variant	nsv430404
Chromosome Location	chr11:76436952-76462852
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:76457514..76460124-chr11:76468465..76470695,2	MCF-7	breast:
2	chr11:76455249..76457100-chr11:76493512..76497788,3	K562	blood:
3	chr11:76456730..76465168-chr11:76492668..76497012,7	K562	blood:
4	chr11:76437584..76440434-chr11:76494257..76496211,2	K562	blood:
5	chr11:76444817..76447367-chr11:76477489..76481018,3	MCF-7	breast:
6	chr11:76458614..76461290-chr11:76467564..76470157,3	K562	blood:
7	chr11:76444662..76445640-chr11:76629853..76630608,2	MCF-7	breast:
8	chr11:76410635..76412831-chr11:76434613..76437612,2	K562	blood:
9	chr11:76460759..76461909-chr11:76483572..76484293,6	MCF-7	breast:
10	chr11:76449564..76451543-chr11:76496131..76497754,2	MCF-7	breast:
11	chr11:76444256..76445576-chr11:76630135..76631218,4	K562	blood:
12	chr11:76444941..76447137-chr11:76494986..76497317,3	K562	blood:
13	chr11:76445344..76446073-chr11:76801899..76802836,2	K562	blood:
14	chr11:76448469..76450791-chr11:76488926..76490777,2	K562	blood:
15	chr11:76457361..76460008-chr11:76475009..76477808,2	MCF-7	breast:
16	chr11:76444600..76445268-chr11:76549508..76550407,4	MCF-7	breast:
17	chr11:76444642..76445671-chr11:76509955..76510846,7	K562	blood:
18	chr11:76443910..76444586-chr11:76756854..76757358,2	MCF-7	breast:
19	chr11:76444797..76445605-chr11:76756797..76757751,2	K562	blood:
20	chr11:76443783..76447678-chr11:76493146..76497317,7	MCF-7	breast:
21	chr11:76446403..76452318-chr11:76452779..76457589,9	K562	blood:
22	chr11:76459617..76462522-chr11:76481019..76482707,2	K562	blood:
23	chr11:76443601..76445826-chr11:76571953..76574772,2	K562	blood:
24	chr11:76446515..76448277-chr11:76483918..76485534,2	MCF-7	breast:
25	chr11:76430934..76434920-chr11:76435609..76442633,7	MCF-7	breast:
26	chr11:76451295..76455303-chr11:76456358..76459104,3	K562	blood:
27	chr11:76455720..76457823-chr11:76458498..76460199,2	MCF-7	breast:
28	chr11:76461183..76461954-chr11:76483369..76484046,4	MCF-7	breast:
29	chr11:76446403..76452318-chr11:76452779..76457589,9	K562	blood:
30	chr11:76445248..76448071-chr11:76628717..76631883,4	MCF-7	breast:
31	chr11:76461036..76461954-chr11:76483369..76484180,6	MCF-7	breast:
32	chr11:76444677..76445883-chr11:76549434..76550433,4	K562	blood:
33	chr11:76446132..76447728-chr11:76448521..76450951,2	K562	blood:
34	chr11:76444941..76446826-chr11:76495647..76497317,2	K562	blood:
35	chr11:76448672..76451202-chr11:76476087..76478426,2	MCF-7	breast:
36	chr11:76444616..76445153-chr11:76518177..76519095,2	MCF-7	breast:
37	chr11:76450173..76453012-chr11:76491965..76494864,2	K562	blood:
38	chr11:76458389..76460958-chr11:76461404..76463823,3	K562	blood:
39	chr11:76445009..76450493-chr11:76452594..76458852,7	K562	blood:
40	chr11:76432736..76434565-chr11:76442976..76445333,2	MCF-7	breast:
41	chr11:76458389..76460958-chr11:76461404..76463823,3	K562	blood:
42	chr11:76447864..76450852-chr11:76476429..76482016,6	MCF-7	breast:
43	chr11:76454654..76458636-chr11:76475295..76479345,4	MCF-7	breast:
44	chr11:76446441..76446993-chr11:76509968..76510808,2	K562	blood:
45	chr11:76444583..76446069-chr11:76756756..76757887,9	MCF-7	breast:
46	chr11:76445665..76448359-chr11:76459229..76461438,2	K562	blood:
47	chr11:76444677..76445621-chr11:76756756..76757566,3	MCF-7	breast:
48	chr11:76433483..76435648-chr11:76441734..76444276,2	K562	blood:
49	chr11:76446132..76447728-chr11:76448521..76450951,2	K562	blood:
50	chr11:76459642..76462413-chr11:76595448..76597077,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254632	chromatin interactions
ENSG00000182704	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000255100	chromatin interactions

Extended variants
information (count: 1106 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4944121	chr11:76436972-76436973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541468305	chr11:76437031-76437032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577013344	chr11:76437042-76437043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528325638	chr11:76437106-76437107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112500531	chr11:76437144-76437145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182992808	chr11:76437169-76437170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569840353	chr11:76437182-76437183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199773794	chr11:76437183-76437184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556290875	chr11:76437184-76437185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111346044	chr11:76437198-76437199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535597800	chr11:76437256-76437257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555506214	chr11:76437258-76437259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555902329	chr11:76437267-76437268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201708100	chr11:76437289-76437290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67450753	chr11:76437290-76437291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145200187	chr11:76437292-76437293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72521556	chr11:76437293-76437294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57424064	chr11:76437294-76437295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188023992	chr11:76437310-76437311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537179970	chr11:76437342-76437343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541257173	chr11:76437358-76437359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10899269	chr11:76437365-76437366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs577960048	chr11:76437366-76437367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191362922	chr11:76437367-76437368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543367536	chr11:76437380-76437381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563143468	chr11:76437423-76437424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528957065	chr11:76437450-76437451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185021848	chr11:76437453-76437454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145544989	chr11:76437462-76437463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148888959	chr11:76437486-76437487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187782917	chr11:76437509-76437510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563368693	chr11:76437579-76437580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531495434	chr11:76437607-76437608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530717094	chr11:76437608-76437609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192207221	chr11:76437667-76437668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117251327	chr11:76437733-76437734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34472158	chr11:76437737-76437738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185109617	chr11:76437742-76437743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374884916	chr11:76437748-76437749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115473950	chr11:76437767-76437768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565883054	chr11:76437817-76437818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77046034	chr11:76437863-76437864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7118639	chr11:76437870-76437871	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs578163234	chr11:76437872-76437873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543784114	chr11:76437876-76437877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557666645	chr11:76437881-76437882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573531765	chr11:76437927-76437928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113975122	chr11:76437977-76437978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559479115	chr11:76437992-76437993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189575679	chr11:76438023-76438024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76433400-76456400	Weak transcription	Right Atrium	heart
2	chr11:76433600-76440600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:76434400-76440000	Weak transcription	K562	blood
4	chr11:76439800-76440600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:76439800-76441200	Enhancers	Fetal Intestine Small	intestine
6	chr11:76440000-76441400	Enhancers	Liver	Liver
7	chr11:76440000-76442800	Enhancers	K562	blood
8	chr11:76440400-76443400	Enhancers	Placenta	Placenta
9	chr11:76440600-76441600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:76440600-76441600	Enhancers	Fetal Intestine Large	intestine
11	chr11:76441200-76445200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:76441400-76450200	Weak transcription	Liver	Liver
13	chr11:76441600-76445200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:76441600-76445600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:76442800-76445000	Weak transcription	K562	blood
16	chr11:76444000-76444200	Enhancers	Colonic Mucosa	Colon
17	chr11:76445000-76446800	Enhancers	K562	blood
18	chr11:76445200-76445400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:76445200-76445400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr11:76445200-76445400	Enhancers	Left Ventricle	heart
21	chr11:76445200-76445600	Enhancers	Fetal Thymus	thymus
22	chr11:76445200-76446200	Enhancers	Fetal Intestine Small	intestine
23	chr11:76445200-76446400	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:76445200-76446600	Enhancers	Colon Smooth Muscle	Colon
25	chr11:76445200-76446800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:76445200-76446800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:76445200-76448000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:76445200-76448800	Enhancers	A549	lung
29	chr11:76445400-76445800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:76445400-76448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:76445600-76446000	Weak transcription	Fetal Thymus	thymus
32	chr11:76445600-76446200	Enhancers	Fetal Intestine Large	intestine
33	chr11:76445600-76446800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:76445600-76446800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:76445600-76447200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:76445600-76447200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:76445600-76447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:76445600-76447800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:76445600-76448200	Enhancers	Placenta	Placenta
40	chr11:76445600-76450600	Enhancers	Fetal Heart	heart
41	chr11:76445800-76446400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:76445800-76446600	Enhancers	Fetal Stomach	stomach
43	chr11:76445800-76447200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:76445800-76448000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:76445800-76449200	Enhancers	Fetal Brain Male	brain
46	chr11:76446000-76446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:76446000-76446200	Enhancers	Fetal Thymus	thymus
48	chr11:76446000-76446400	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:76446000-76446400	Enhancers	Fetal Lung	lung
50	chr11:76446000-76446400	Enhancers	Stomach Smooth Muscle	stomach

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