Variant report

Variant	esv3382718
Chromosome Location	chr11:64382576-64385774
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64372156..64374370-chr11:64385204..64388133,2	K562	blood:
2	chr11:64382022..64384034-chr11:64386590..64389266,3	K562	blood:
3	chr11:64382637..64384423-chr11:64413492..64416001,2	MCF-7	breast:
4	chr11:64378729..64384620-chr11:64390425..64395491,5	K562	blood:
5	chr11:64359724..64361589-chr11:64382064..64384516,2	K562	blood:
6	chr11:64384619..64387487-chr11:64396791..64398717,2	MCF-7	breast:
7	chr11:64330087..64331610-chr11:64382078..64384339,2	K562	blood:
8	chr11:64380600..64384034-chr11:64384345..64388589,5	K562	blood:
9	chr11:64382824..64385370-chr11:64385772..64388101,2	MCF-7	breast:
10	chr11:64380600..64382415-chr11:64384345..64386104,2	K562	blood:
11	chr11:64382824..64385370-chr11:64385772..64388101,2	MCF-7	breast:
12	chr11:64380600..64384034-chr11:64384345..64388589,5	K562	blood:
13	chr11:64378103..64380693-chr11:64382782..64384432,2	MCF-7	breast:
14	chr11:64381148..64383692-chr11:64398093..64400350,2	K562	blood:
15	chr11:64357096..64359483-chr11:64381226..64383774,2	MCF-7	breast:
16	chr11:64375874..64378120-chr11:64381726..64383256,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197891	chromatin interactions
ENSG00000237410	chromatin interactions
ENSG00000110076	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552568492	chr11:64382606-64382607	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566391546	chr11:64382660-64382661	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562614283	chr11:64382667-64382668	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548805190	chr11:64382668-64382669	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144969499	chr11:64382715-64382716	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs529842096	chr11:64382736-64382737	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536785942	chr11:64382764-64382765	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs138829013	chr11:64382769-64382770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs7947416	chr11:64382806-64382807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142012858	chr11:64382809-64382810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs35022011	chr11:64382833-64382834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558971399	chr11:64382916-64382917	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs572808190	chr11:64382932-64382933	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541575989	chr11:64382959-64382960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs143718440	chr11:64382988-64382989	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs574578565	chr11:64383059-64383060	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543584288	chr11:64383076-64383077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs375821799	chr11:64383122-64383123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs148236054	chr11:64383158-64383159	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532370268	chr11:64383288-64383289	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs138277254	chr11:64383302-64383303	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs560042697	chr11:64383312-64383313	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs66833548	chr11:64383313-64383314	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs201402705	chr11:64383318-64383319	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs58559730	chr11:64383325-64383326	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs60849932	chr11:64383326-64383327	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs56093838	chr11:64383327-64383328	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs112854362	chr11:64383328-64383329	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs199700269	chr11:64383329-64383330	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200500379	chr11:64383330-64383331	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs58790757	chr11:64383338-64383339	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs398016395	chr11:64383340-64383341	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs66816920	chr11:64383341-64383342	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs76504875	chr11:64383342-64383343	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs544447713	chr11:64383359-64383360	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs539337743	chr11:64383392-64383393	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs568703673	chr11:64383405-64383406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs141261661	chr11:64383448-64383449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs560084884	chr11:64383455-64383456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs374263068	chr11:64383456-64383457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs550375589	chr11:64383485-64383486	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs570539757	chr11:64383521-64383522	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs150784753	chr11:64383527-64383528	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs561446912	chr11:64383558-64383559	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs552550500	chr11:64383573-64383574	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs566424843	chr11:64383583-64383584	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs535396894	chr11:64383606-64383607	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs376505294	chr11:64383684-64383685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs575320643	chr11:64383702-64383703	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs540633303	chr11:64383714-64383715	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
2	chr11:64376000-64383200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:64376200-64383000	Enhancers	Fetal Thymus	thymus
4	chr11:64376400-64382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:64376400-64383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:64376600-64382600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:64376600-64382600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:64376600-64382600	Weak transcription	Osteobl	bone
9	chr11:64376600-64383200	Weak transcription	Fetal Kidney	kidney
10	chr11:64376600-64386600	Weak transcription	Right Atrium	heart
11	chr11:64376600-64387000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:64376600-64387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:64376600-64387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:64376800-64382800	Weak transcription	Fetal Brain Male	brain
15	chr11:64376800-64387200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:64377000-64382800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:64377400-64383400	Strong transcription	Fetal Intestine Small	intestine
18	chr11:64377400-64384000	Weak transcription	Ovary	ovary
19	chr11:64377600-64385800	Strong transcription	Fetal Stomach	stomach
20	chr11:64377600-64387000	Strong transcription	Fetal Brain Female	brain
21	chr11:64377800-64382800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:64377800-64386200	Strong transcription	Brain Germinal Matrix	brain
23	chr11:64378000-64386000	Weak transcription	Fetal Intestine Large	intestine
24	chr11:64379600-64382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:64379600-64385600	Weak transcription	Pancreas	Pancrea
26	chr11:64379800-64385800	Weak transcription	Liver	Liver
27	chr11:64380000-64386200	Weak transcription	Spleen	Spleen
28	chr11:64380000-64387000	Weak transcription	Right Ventricle	heart
29	chr11:64380000-64396800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:64380400-64385600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:64380600-64383600	Weak transcription	HSMM	muscle
32	chr11:64380600-64385000	Strong transcription	Aorta	Aorta
33	chr11:64380600-64385400	Strong transcription	Fetal Lung	lung
34	chr11:64380600-64385600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:64380800-64385800	Strong transcription	Fetal Muscle Leg	muscle
36	chr11:64380800-64386400	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:64380800-64387000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64380800-64390800	Weak transcription	Esophagus	oesophagus
39	chr11:64380800-64396600	Weak transcription	NHDF-Ad	bronchial
40	chr11:64381000-64382600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:64381000-64383000	Weak transcription	Brain Angular Gyrus	brain
42	chr11:64381000-64383000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:64381200-64385800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:64381800-64382600	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:64382000-64382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:64382000-64387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:64382200-64385200	Strong transcription	Brain Substantia Nigra	brain
48	chr11:64382400-64383400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:64382400-64385000	Strong transcription	Brain Anterior Caudate	brain
50	chr11:64382400-64386000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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