Variant report

Variant	esv3377552
Chromosome Location	chr11:76216198-76216680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76210981..76212652-chr11:76215333..76217549,2	K562	blood:
2	chr11:76215740..76218864-chr11:76222952..76226299,3	K562	blood:
3	chr11:76154330..76156315-chr11:76215728..76217827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255135	chromatin interactions
ENSG00000158636	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560389541	chr11:76216200-76216201	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149197588	chr11:76216245-76216246	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117269258	chr11:76216249-76216250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2513510	chr11:76216265-76216266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531447672	chr11:76216266-76216267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548289606	chr11:76216278-76216279	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551387972	chr11:76216288-76216289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533777754	chr11:76216298-76216299	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554207983	chr11:76216299-76216300	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571131565	chr11:76216301-76216302	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12284254	chr11:76216325-76216326	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556360741	chr11:76216365-76216366	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566484426	chr11:76216385-76216386	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576214000	chr11:76216386-76216387	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183065259	chr11:76216387-76216388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370023794	chr11:76216392-76216393	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555438290	chr11:76216396-76216397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572392353	chr11:76216400-76216401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs55665033	chr11:76216404-76216405	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61894536	chr11:76216405-76216406	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372496170	chr11:76216406-76216407	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541427328	chr11:76216422-76216423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564279858	chr11:76216432-76216433	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532460663	chr11:76216446-76216447	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187038504	chr11:76216460-76216461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545743226	chr11:76216488-76216489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192746206	chr11:76216491-76216492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531510868	chr11:76216526-76216527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534447746	chr11:76216573-76216574	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548350313	chr11:76216579-76216580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113567541	chr11:76216620-76216621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527354122	chr11:76216659-76216660	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547373201	chr11:76216672-76216673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555807186	chr11:76216673-76216674	Weak transcription	Chromatin interactive region	2 gene(s)	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
Multiple myeloma	17550852	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
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76166800-76219400	Weak transcription	Small Intestine	intestine
2	chr11:76168800-76234800	Weak transcription	Psoas Muscle	Psoas
3	chr11:76171200-76221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:76184400-76235000	Weak transcription	NHEK	skin
5	chr11:76189000-76231400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:76189400-76223000	Weak transcription	HUVEC	blood vessel
7	chr11:76190800-76234200	Weak transcription	Left Ventricle	heart
8	chr11:76191400-76221200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:76191400-76239000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:76191600-76231600	Weak transcription	NHDF-Ad	bronchial
11	chr11:76192800-76221200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:76192800-76242800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:76204000-76221200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:76205200-76234200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:76205200-76235800	Weak transcription	NHLF	lung
16	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
17	chr11:76205400-76221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:76205400-76227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:76205400-76235800	Weak transcription	Lung	lung
20	chr11:76205400-76240000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
22	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:76205600-76221200	Weak transcription	Pancreas	Pancrea
24	chr11:76205600-76239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:76205800-76221200	Weak transcription	Ovary	ovary
26	chr11:76205800-76235800	Weak transcription	Esophagus	oesophagus
27	chr11:76206000-76249200	Weak transcription	Colonic Mucosa	Colon
28	chr11:76207400-76221400	Weak transcription	Gastric	stomach
29	chr11:76207400-76239400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:76207400-76240000	Weak transcription	Brain Substantia Nigra	brain
31	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:76207600-76219200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:76207600-76239400	Weak transcription	Brain Angular Gyrus	brain
34	chr11:76207800-76221400	Weak transcription	Osteobl	bone
35	chr11:76208000-76234200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:76208000-76234200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:76208000-76235200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:76208200-76234200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:76208400-76234200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:76211200-76232400	Weak transcription	Fetal Stomach	stomach
41	chr11:76212000-76219800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:76212000-76234200	Weak transcription	Thymus	Thymus
43	chr11:76212000-76234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:76212000-76235200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:76212000-76235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:76212200-76216400	Weak transcription	HMEC	breast
47	chr11:76212200-76219600	Weak transcription	Fetal Thymus	thymus
48	chr11:76212200-76224400	Weak transcription	K562	blood
49	chr11:76212200-76229200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:76212200-76234200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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