Variant report

Variant	esv3341862
Chromosome Location	chr11:65067654-65068100
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65067115..65069965-chr11:65073669..65075619,2	MCF-7	breast:
2	chr11:65066474..65068959-chr11:65073431..65075830,2	MCF-7	breast:
3	chr11:65053971..65055888-chr11:65068050..65070262,2	MCF-7	breast:
4	chr11:65067128..65069997-chr11:65080803..65083874,3	K562	blood:
5	chr11:65062994..65065598-chr11:65067029..65069145,2	MCF-7	breast:
6	chr11:65067238..65069227-chr11:65082339..65083846,2	MCF-7	breast:
7	chr11:65047637..65049685-chr11:65066933..65069852,2	MCF-7	breast:
8	chr11:65066072..65068359-chr11:65068503..65070591,2	MCF-7	breast:
9	chr11:65066136..65068628-chr11:65080677..65082303,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149798	chromatin interactions
ENSG00000014138	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549774393	chr11:65067682-65067683	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139581185	chr11:65067727-65067728	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538602978	chr11:65067749-65067750	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11824827	chr11:65067803-65067804	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145606515	chr11:65067898-65067899	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534683347	chr11:65067942-65067943	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554725171	chr11:65067943-65067944	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186661723	chr11:65067976-65067977	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536859761	chr11:65068013-65068014	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373497101	chr11:65068016-65068017	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs150662982	chr11:65068043-65068044	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375361800	chr11:65068054-65068055	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201940258	chr11:65068058-65068059	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148914867	chr11:65068066-65068067	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	18641027	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
2	chr11:65042800-65072800	Strong transcription	Dnd41	blood
3	chr11:65047800-65075800	Weak transcription	Small Intestine	intestine
4	chr11:65048400-65069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:65056000-65068800	Genic enhancers	Fetal Stomach	stomach
6	chr11:65060000-65068600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:65060000-65069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:65060400-65068400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:65060600-65069000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:65062800-65069600	Weak transcription	Stomach Mucosa	stomach
11	chr11:65062800-65077200	Weak transcription	Fetal Brain Male	brain
12	chr11:65063000-65068600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:65063800-65069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:65063800-65081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:65064000-65067800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:65064000-65069200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:65064000-65069400	Weak transcription	HUVEC	blood vessel
18	chr11:65064000-65070000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:65064000-65071200	Weak transcription	GM12878-XiMat	blood
20	chr11:65064600-65069000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:65064800-65067800	Enhancers	NHLF	lung
22	chr11:65065000-65068800	Weak transcription	HepG2	liver
23	chr11:65065000-65069000	Weak transcription	K562	blood
24	chr11:65065000-65081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:65065000-65081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:65066000-65069000	Weak transcription	Esophagus	oesophagus
27	chr11:65066000-65069000	Weak transcription	Gastric	stomach
28	chr11:65066000-65069000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:65066000-65069200	Weak transcription	Fetal Kidney	kidney
30	chr11:65066000-65073400	Strong transcription	Thymus	Thymus
31	chr11:65066000-65081800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:65066200-65068800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:65066200-65071000	Enhancers	Placenta	Placenta
34	chr11:65066200-65071200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:65066200-65076200	Weak transcription	Primary T cells from cord blood	blood
36	chr11:65066200-65078000	Weak transcription	HMEC	breast
37	chr11:65066400-65069200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:65066400-65069200	Weak transcription	A549	lung
39	chr11:65066400-65071200	Weak transcription	NHEK	skin
40	chr11:65066400-65080800	Weak transcription	Brain Germinal Matrix	brain
41	chr11:65066600-65068400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:65066600-65068400	Weak transcription	Hela-S3	cervix
43	chr11:65066600-65068600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:65066600-65069000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:65066600-65071600	Weak transcription	Pancreas	Pancrea
46	chr11:65066600-65072800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:65066600-65076000	Weak transcription	Osteobl	bone
48	chr11:65066600-65081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:65066600-65081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:65066800-65069200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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