Variant report

Variant	esv3434010
Chromosome Location	chr11:76440388-76440828
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	chr11:76437584..76440434-chr11:76494257..76496211,2	K562	blood:
2	chr11:76430934..76434920-chr11:76435609..76442633,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182704	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78955335	chr11:76440389-76440390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191535378	chr11:76440397-76440398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs17812296	chr11:76440427-76440428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551860740	chr11:76440432-76440433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367829614	chr11:76440445-76440446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568852825	chr11:76440446-76440447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537479720	chr11:76440461-76440462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554630194	chr11:76440483-76440484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531563800	chr11:76440486-76440487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567852374	chr11:76440487-76440488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144530999	chr11:76440500-76440501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115866158	chr11:76440509-76440510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548603294	chr11:76440518-76440519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145924700	chr11:76440576-76440577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183401165	chr11:76440603-76440604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139818500	chr11:76440625-76440626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544326994	chr11:76440631-76440632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56203693	chr11:76440642-76440643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11236913	chr11:76440667-76440668	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs11236914	chr11:76440707-76440708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541877388	chr11:76440713-76440714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553392070	chr11:76440731-76440732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560690769	chr11:76440732-76440733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532662746	chr11:76440735-76440736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374167811	chr11:76440755-76440756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552822601	chr11:76440789-76440790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143264696	chr11:76440801-76440802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:9 , 50 per page) page: 1

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	chr11:76439800-76440600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:76439800-76441200	Enhancers	Fetal Intestine Small	intestine
5	chr11:76440000-76441400	Enhancers	Liver	Liver
6	chr11:76440000-76442800	Enhancers	K562	blood
7	chr11:76440400-76443400	Enhancers	Placenta	Placenta
8	chr11:76440600-76441600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:76440600-76441600	Enhancers	Fetal Intestine Large	intestine

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