Variant report

Variant	esv3508598
Chromosome Location	chr11:76671304-76676202
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	chr11:76666896..76668570-chr11:76671083..76673989,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540168030	chr11:76671336-76671337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188263868	chr11:76671410-76671411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566434196	chr11:76671515-76671516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6592686	chr11:76671517-76671518	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6592687	chr11:76671519-76671520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531049961	chr11:76671552-76671553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200787738	chr11:76671571-76671572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192944581	chr11:76671637-76671638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184008285	chr11:76671656-76671657	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574287162	chr11:76671683-76671684	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188302124	chr11:76671718-76671719	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567157782	chr11:76671744-76671745	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531971972	chr11:76671823-76671824	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552168412	chr11:76671864-76671865	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73491408	chr11:76671893-76671894	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144110236	chr11:76671923-76671924	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554329282	chr11:76671949-76671950	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567953734	chr11:76671950-76671951	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533830883	chr11:76671961-76671962	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544771415	chr11:76671981-76671982	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553734221	chr11:76672007-76672008	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577076000	chr11:76672016-76672017	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146508618	chr11:76672052-76672053	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141151251	chr11:76672060-76672061	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551481415	chr11:76672062-76672063	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386755186	chr11:76672084-76672085	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575785131	chr11:76672095-76672096	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367983497	chr11:76672180-76672181	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145625652	chr11:76672264-76672265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561465190	chr11:76672282-76672283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563373575	chr11:76672283-76672284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146182143	chr11:76672319-76672320	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367794841	chr11:76672352-76672353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138262914	chr11:76672421-76672422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577834055	chr11:76672445-76672446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560591182	chr11:76672516-76672517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532865539	chr11:76672586-76672587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545061317	chr11:76672591-76672592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140205342	chr11:76672601-76672602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371267622	chr11:76672638-76672639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376578344	chr11:76672669-76672670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372493050	chr11:76672828-76672829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551868488	chr11:76672852-76672853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149161563	chr11:76672865-76672866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560218927	chr11:76672893-76672894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531294402	chr11:76672959-76672960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547926505	chr11:76672964-76672965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567815569	chr11:76672981-76672982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55798841	chr11:76673122-76673123	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35358307	chr11:76673188-76673189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76631400-76688400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76631600-76671600	Weak transcription	Ovary	ovary
3	chr11:76645800-76683800	Weak transcription	Esophagus	oesophagus
4	chr11:76646600-76688000	Weak transcription	HMEC	breast
5	chr11:76647200-76671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:76647200-76673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:76647200-76674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:76648400-76671600	Weak transcription	Spleen	Spleen
9	chr11:76649600-76672000	Weak transcription	Aorta	Aorta
10	chr11:76650600-76681200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:76655800-76671600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:76655800-76674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:76655800-76681800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:76656200-76677000	Weak transcription	Brain Anterior Caudate	brain
15	chr11:76657000-76674600	Weak transcription	Fetal Stomach	stomach
16	chr11:76657000-76676600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:76657200-76688400	Weak transcription	Gastric	stomach
18	chr11:76657600-76671600	Weak transcription	Lung	lung
19	chr11:76657600-76672600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:76659600-76673600	Weak transcription	Small Intestine	intestine
21	chr11:76659800-76673400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:76659800-76673600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:76660200-76672800	Weak transcription	Fetal Intestine Small	intestine
25	chr11:76661200-76673800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:76661200-76674600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:76661800-76673400	Weak transcription	Pancreas	Pancrea
28	chr11:76662000-76671400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:76662800-76673600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:76663000-76671600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:76663000-76674600	Weak transcription	Liver	Liver
32	chr11:76664200-76673200	Weak transcription	Fetal Intestine Large	intestine
33	chr11:76665200-76673400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:76665800-76688400	Weak transcription	Right Ventricle	heart
35	chr11:76666800-76671600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:76666800-76671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:76666800-76673600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:76666800-76677600	Weak transcription	Hela-S3	cervix
39	chr11:76666800-76695400	Weak transcription	NHEK	skin
40	chr11:76667400-76673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:76667600-76673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:76667800-76673800	Weak transcription	Brain Angular Gyrus	brain
43	chr11:76667800-76674400	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:76668400-76673400	Weak transcription	Dnd41	blood
45	chr11:76668600-76673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:76668600-76673600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:76668800-76671600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:76668800-76671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:76668800-76673600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:76668800-76674000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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