Variant report

Variant	esv3510700
Chromosome Location	chr11:120072742-120075790
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	chr11:120067951..120070508-chr11:120073184..120075612,2	K562	blood:
2	chr11:120072351..120075754-chr11:120106041..120109136,3	K562	blood:

Variant related genes	Relation type
ENSG00000137709	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs185998612	chr11:120072755-120072756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190856925	chr11:120072764-120072765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565803885	chr11:120072836-120072837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539550510	chr11:120072837-120072838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115160719	chr11:120072849-120072850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570273080	chr11:120072900-120072901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572830615	chr11:120072925-120072926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111359468	chr11:120072935-120072936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555643593	chr11:120072941-120072942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114441936	chr11:120073026-120073027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376466152	chr11:120073031-120073032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575572546	chr11:120073046-120073047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183057760	chr11:120073099-120073100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116431390	chr11:120073108-120073109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28378353	chr11:120073109-120073110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564116385	chr11:120073135-120073136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78804081	chr11:120073138-120073139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543302688	chr11:120073170-120073171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373085412	chr11:120073191-120073192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148725102	chr11:120073229-120073230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61898268	chr11:120073236-120073237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34502707	chr11:120073243-120073244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113846684	chr11:120073283-120073284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547396564	chr11:120073288-120073289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573356635	chr11:120073300-120073301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73584865	chr11:120073324-120073325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532880031	chr11:120073326-120073327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551503395	chr11:120073334-120073335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570104690	chr11:120073337-120073338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188394407	chr11:120073398-120073399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34762314	chr11:120073400-120073401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555608512	chr11:120073411-120073412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201044632	chr11:120073414-120073415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540782635	chr11:120073430-120073431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567641353	chr11:120073441-120073442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535012457	chr11:120073442-120073443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370817356	chr11:120073446-120073447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559448260	chr11:120073447-120073448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11601903	chr11:120073458-120073459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs578001616	chr11:120073461-120073462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11599976	chr11:120073469-120073470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11606167	chr11:120073479-120073480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545168023	chr11:120073504-120073505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532958058	chr11:120073520-120073521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34172399	chr11:120073521-120073522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543655969	chr11:120073563-120073564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61898269	chr11:120073606-120073607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529188544	chr11:120073629-120073630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112830615	chr11:120073630-120073631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111791232	chr11:120073634-120073635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
2	chr11:120065800-120074600	Enhancers	Fetal Intestine Large	intestine
3	chr11:120066600-120073200	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:120068800-120078400	Weak transcription	Small Intestine	intestine
5	chr11:120069800-120074400	Weak transcription	Fetal Lung	lung
6	chr11:120069800-120076000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:120069800-120078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:120070000-120075200	Weak transcription	Pancreas	Pancrea
9	chr11:120070200-120077200	Weak transcription	Spleen	Spleen
10	chr11:120070400-120073800	Enhancers	HepG2	liver
11	chr11:120070800-120075800	Weak transcription	Liver	Liver
12	chr11:120071000-120074400	Weak transcription	Placenta	Placenta
13	chr11:120071400-120078400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:120072000-120073000	Enhancers	Fetal Kidney	kidney
15	chr11:120072200-120072800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:120072400-120074400	Weak transcription	Fetal Stomach	stomach
17	chr11:120072400-120075200	Weak transcription	Esophagus	oesophagus
18	chr11:120072800-120074200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:120073000-120073200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:120073000-120075400	Weak transcription	Fetal Kidney	kidney
21	chr11:120073600-120074000	Weak transcription	Fetal Intestine Small	intestine
22	chr11:120073800-120075600	Weak transcription	HepG2	liver
23	chr11:120074000-120074800	Enhancers	Fetal Intestine Small	intestine
24	chr11:120074200-120076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:120074400-120074800	Enhancers	Fetal Lung	lung
26	chr11:120074400-120075400	Enhancers	Fetal Stomach	stomach
27	chr11:120074400-120075800	Enhancers	Placenta	Placenta
28	chr11:120074400-120076800	Enhancers	NHDF-Ad	bronchial
29	chr11:120074400-120077200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:120074600-120074800	Enhancers	Fetal Muscle Leg	muscle
31	chr11:120074600-120079400	Weak transcription	Fetal Intestine Large	intestine
32	chr11:120074800-120075000	Weak transcription	Fetal Lung	lung
33	chr11:120074800-120078400	Weak transcription	Fetal Intestine Small	intestine
34	chr11:120074800-120078600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:120075000-120075600	Enhancers	Fetal Lung	lung
36	chr11:120075200-120075400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr11:120075200-120076200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:120075200-120076200	Enhancers	Esophagus	oesophagus
39	chr11:120075200-120076400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:120075200-120076800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:120075200-120076800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:120075200-120077000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:120075200-120077200	Enhancers	HMEC	breast
44	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
45	chr11:120075400-120075600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:120075400-120075600	Enhancers	Fetal Kidney	kidney
47	chr11:120075400-120077000	Weak transcription	Fetal Stomach	stomach
48	chr11:120075600-120076800	Enhancers	NHEK	skin
49	chr11:120075600-120078000	Weak transcription	Fetal Kidney	kidney
50	chr11:120075600-120078200	Weak transcription	Fetal Lung	lung

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