Variant report

Variant	nsv555700
Chromosome Location	chr11:86305393-86306097
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	chr11:86302794..86305608-chr11:86317191..86320162,2	K562	blood:
2	chr11:86299094..86301752-chr11:86305764..86307312,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544391209	chr11:86305485-86305486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566060589	chr11:86305580-86305581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563957073	chr11:86305598-86305599	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115593955	chr11:86305602-86305603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551395044	chr11:86305624-86305625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564869145	chr11:86305631-86305632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147182741	chr11:86305634-86305635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571947326	chr11:86305661-86305662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140509895	chr11:86305671-86305672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144514870	chr11:86305702-86305703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542506206	chr11:86305741-86305742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557127294	chr11:86305751-86305752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546427	chr11:86305758-86305759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17149197	chr11:86305817-86305818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538554692	chr11:86306042-86306043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576258674	chr11:86306071-86306072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7124121	chr11:86306097-86306098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:86298000-86307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:86300200-86305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
6	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
7	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:86301600-86307000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:86302200-86309000	Enhancers	HUVEC	blood vessel
10	chr11:86302400-86306600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:86302400-86306800	Enhancers	HMEC	breast
12	chr11:86302600-86307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:86303000-86306000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:86303000-86306800	Enhancers	NHDF-Ad	bronchial
15	chr11:86303000-86307000	Enhancers	NHEK	skin
16	chr11:86303200-86306600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:86303200-86306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:86303600-86307200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr11:86304000-86305400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:86304000-86306600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:86304000-86306600	Weak transcription	Fetal Intestine Large	intestine
22	chr11:86304000-86306600	Weak transcription	Fetal Intestine Small	intestine
23	chr11:86304200-86305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:86304200-86305800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:86304200-86306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:86304200-86306600	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:86304200-86306600	Weak transcription	Pancreas	Pancrea
28	chr11:86304200-86306600	Weak transcription	Psoas Muscle	Psoas
29	chr11:86304200-86308000	Weak transcription	Aorta	Aorta
30	chr11:86304200-86308000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:86304200-86308200	Weak transcription	Fetal Stomach	stomach
32	chr11:86304400-86305400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:86304400-86305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:86304400-86305400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:86304400-86305400	Weak transcription	Left Ventricle	heart
36	chr11:86304400-86305600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:86304400-86305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:86304400-86305600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:86304400-86305600	Weak transcription	NH-A	brain
40	chr11:86304400-86305800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:86304400-86305800	Weak transcription	HSMM	muscle
42	chr11:86304400-86305800	Weak transcription	HSMMtube	muscle
43	chr11:86304400-86306000	Enhancers	Hela-S3	cervix
44	chr11:86304400-86306400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:86304400-86306600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:86304400-86306600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:86304400-86306600	Weak transcription	Lung	lung
48	chr11:86304400-86306600	Weak transcription	Right Atrium	heart
49	chr11:86304400-86306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:86304400-86306600	Weak transcription	Stomach Smooth Muscle	stomach

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