Variant report

Variant	nsv1048063
Chromosome Location	chr14:56401045-56428160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56396115..56397620-chr14:56399759..56401612,2	K562	blood:
2	chr12:9799281..9800002-chr14:56409811..56410509,2	MCF-7	breast:
3	chr14:56399761..56402429-chr14:56440899..56442886,2	K562	blood:
4	chr14:56258843..56261080-chr14:56411606..56413589,2	K562	blood:

Variant related genes	Relation type
ENSG00000258791	chromatin interactions

Extended variants
information (count: 1147 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1147 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181096554	chr14:56401126-56401127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs186153687	chr14:56401127-56401128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190623469	chr14:56401253-56401254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs60529691	chr14:56401293-56401294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184064551	chr14:56401308-56401309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113060005	chr14:56401312-56401313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7152734	chr14:56401314-56401315	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570549723	chr14:56401329-56401330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188772583	chr14:56401338-56401339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371070165	chr14:56401386-56401387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs71448475	chr14:56401398-56401399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113500789	chr14:56401419-56401420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549900626	chr14:56401448-56401449	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571546054	chr14:56401462-56401463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539193133	chr14:56401482-56401483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551373950	chr14:56401512-56401513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566776215	chr14:56401515-56401516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533721149	chr14:56401516-56401517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555606024	chr14:56401526-56401527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567330328	chr14:56401528-56401529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs151072067	chr14:56401538-56401539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556322362	chr14:56401543-56401544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140971440	chr14:56401558-56401559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7153309	chr14:56401577-56401578	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370267983	chr14:56401589-56401590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554140830	chr14:56401601-56401602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201978367	chr14:56401629-56401630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200620982	chr14:56401632-56401633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11381517	chr14:56401633-56401634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6573072	chr14:56401679-56401680	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs550154315	chr14:56401728-56401729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542770404	chr14:56401813-56401814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561133335	chr14:56401829-56401830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144640658	chr14:56401843-56401844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543491559	chr14:56401847-56401848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs565415345	chr14:56401854-56401855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11402764	chr14:56401874-56401875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367839563	chr14:56401890-56401891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77559177	chr14:56401899-56401900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs17090728	chr14:56401927-56401928	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376274593	chr14:56401973-56401974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11624430	chr14:56401990-56401991	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75344845	chr14:56402005-56402006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190808827	chr14:56402018-56402019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549338369	chr14:56402077-56402078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs530598948	chr14:56402108-56402109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536207828	chr14:56402129-56402130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147864295	chr14:56402139-56402140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555951545	chr14:56402145-56402146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11326969	chr14:56402189-56402190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56393600-56405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56396200-56404200	Weak transcription	Gastric	stomach
3	chr14:56397600-56402200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:56400400-56404200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:56400800-56401200	ZNF genes & repeats	Esophagus	oesophagus
6	chr14:56400800-56404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:56401000-56404400	Weak transcription	HSMMtube	muscle
8	chr14:56401200-56404800	Weak transcription	Esophagus	oesophagus
9	chr14:56402200-56402400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:56402400-56405200	Enhancers	Fetal Intestine Small	intestine
11	chr14:56402600-56405000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:56402800-56404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:56403400-56405400	Enhancers	Pancreas	Pancrea
14	chr14:56403400-56405600	Enhancers	Fetal Heart	heart
15	chr14:56403400-56405600	Enhancers	Fetal Muscle Leg	muscle
16	chr14:56403600-56404400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:56403600-56404600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:56403600-56406000	Enhancers	Brain Germinal Matrix	brain
19	chr14:56403800-56404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:56403800-56404600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:56403800-56404600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:56404000-56404200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:56404000-56404600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr14:56404000-56406000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:56404200-56404400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:56404200-56404400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:56404200-56404800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:56404200-56404800	Enhancers	Brain Anterior Caudate	brain
29	chr14:56404200-56404800	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:56404200-56405200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:56404200-56405400	Enhancers	Brain Cingulate Gyrus	brain
32	chr14:56404200-56405400	Enhancers	Fetal Brain Male	brain
33	chr14:56404200-56405400	Enhancers	Gastric	stomach
34	chr14:56404200-56405600	Enhancers	Brain Substantia Nigra	brain
35	chr14:56404200-56405800	Enhancers	Brain Hippocampus Middle	brain
36	chr14:56404200-56406000	Enhancers	Fetal Brain Female	brain
37	chr14:56404200-56411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:56404400-56404600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:56404400-56404800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:56404400-56405200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:56404400-56405200	Enhancers	NHDF-Ad	bronchial
42	chr14:56404400-56405400	Enhancers	Brain Angular Gyrus	brain
43	chr14:56404400-56405600	Enhancers	HSMMtube	muscle
44	chr14:56404400-56405800	Enhancers	HMEC	breast
45	chr14:56404400-56406000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:56404400-56406000	Enhancers	Colon Smooth Muscle	Colon
47	chr14:56404400-56407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:56404600-56405000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:56404600-56405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:56404600-56405200	Enhancers	Adipose Nuclei	Adipose

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