Variant report

Variant	esv3448595
Chromosome Location	chr14:105413007-105419505
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	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185567	chromatin interactions

Extended variants
information (count: 1470 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1470 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372696524	chr14:105413023-105413024	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375802197	chr14:105413034-105413035	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77077255	chr14:105413036-105413037	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369367703	chr14:105413037-105413038	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373405334	chr14:105413041-105413042	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181823595	chr14:105413049-105413050	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534547213	chr14:105413053-105413054	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186180942	chr14:105413056-105413057	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554150808	chr14:105413057-105413058	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577072628	chr14:105413058-105413059	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545979954	chr14:105413066-105413067	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562653782	chr14:105413067-105413068	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149080720	chr14:105413068-105413069	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370995302	chr14:105413076-105413077	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541881175	chr14:105413094-105413095	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562080443	chr14:105413118-105413119	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527669472	chr14:105413130-105413131	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs373989251	chr14:105413132-105413133	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190699492	chr14:105413133-105413134	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371476596	chr14:105413141-105413142	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200865013	chr14:105413142-105413143	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201434975	chr14:105413143-105413144	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373784027	chr14:105413152-105413153	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs367635530	chr14:105413153-105413154	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533202251	chr14:105413154-105413155	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549959692	chr14:105413181-105413182	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569768217	chr14:105413185-105413186	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370122326	chr14:105413187-105413188	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs199525468	chr14:105413190-105413191	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565701275	chr14:105413191-105413192	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374832748	chr14:105413195-105413196	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs367906140	chr14:105413203-105413204	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2582514	chr14:105413204-105413205	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181534063	chr14:105413207-105413208	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372705773	chr14:105413211-105413212	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375771948	chr14:105413219-105413220	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs151173659	chr14:105413220-105413221	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs55797226	chr14:105413223-105413224	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200673144	chr14:105413229-105413230	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201236897	chr14:105413240-105413241	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs140273448	chr14:105413243-105413244	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186320687	chr14:105413245-105413246	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs386781093	chr14:105413248-105413249	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201708343	chr14:105413249-105413250	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182892317	chr14:105413250-105413251	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370970288	chr14:105413253-105413254	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs376883237	chr14:105413255-105413256	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs145247381	chr14:105413256-105413257	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs199922115	chr14:105413261-105413262	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs199533869	chr14:105413269-105413270	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
4	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
8	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
10	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
11	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:105405000-105413400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:105406800-105421600	Weak transcription	NHLF	lung
15	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
16	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
17	chr14:105407200-105414000	Weak transcription	Spleen	Spleen
18	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:105407600-105419800	Weak transcription	HMEC	breast
21	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
24	chr14:105408000-105421000	Weak transcription	HSMM	muscle
25	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
26	chr14:105408400-105415200	Weak transcription	A549	lung
27	chr14:105408400-105423600	Weak transcription	Gastric	stomach
28	chr14:105408800-105414000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
30	chr14:105409400-105413400	Weak transcription	NHEK	skin
31	chr14:105410400-105414000	Strong transcription	Colon Smooth Muscle	Colon
32	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:105410800-105415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:105412400-105413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:105412600-105413800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:105412800-105413800	Weak transcription	Fetal Stomach	stomach
39	chr14:105413000-105416400	Strong transcription	Esophagus	oesophagus
40	chr14:105413400-105413800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:105413400-105416200	Strong transcription	NHEK	skin
42	chr14:105413800-105414800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr14:105413800-105415200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105413800-105417000	Strong transcription	Fetal Stomach	stomach
45	chr14:105413800-105424600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:105414000-105414600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr14:105414000-105420800	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:105414600-105416400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:105414800-105418000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr14:105415000-105421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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