Variant report

Variant	esv2588764
Chromosome Location	chr14:105413780-105419762
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: 1365 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1365 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148748842	chr14:105413781-105413782	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371798547	chr14:105413786-105413787	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs11848564	chr14:105413790-105413791	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs57308399	chr14:105413791-105413792	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369787479	chr14:105413795-105413796	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201024842	chr14:105413796-105413797	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374885587	chr14:105413797-105413798	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369539684	chr14:105413805-105413806	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372141829	chr14:105413813-105413814	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs199625858	chr14:105413820-105413821	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372930834	chr14:105413822-105413823	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201756015	chr14:105413833-105413834	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371001110	chr14:105413847-105413848	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373993404	chr14:105413853-105413854	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375464607	chr14:105413862-105413863	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371234619	chr14:105413863-105413864	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540187461	chr14:105413868-105413869	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535560691	chr14:105413869-105413870	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs202164616	chr14:105413876-105413877	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545635842	chr14:105413877-105413878	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565513992	chr14:105413880-105413881	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367650805	chr14:105413895-105413896	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572087329	chr14:105413902-105413903	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545104434	chr14:105413903-105413904	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183423977	chr14:105413904-105413905	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200418445	chr14:105413905-105413906	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567739908	chr14:105413906-105413907	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370273950	chr14:105413911-105413912	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530049579	chr14:105413916-105413917	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377394378	chr14:105413921-105413922	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200868286	chr14:105413925-105413926	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs199877699	chr14:105413936-105413937	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs367869692	chr14:105413954-105413955	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566449715	chr14:105413963-105413964	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372063231	chr14:105413966-105413967	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538510224	chr14:105413970-105413971	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374259207	chr14:105413973-105413974	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368757389	chr14:105413980-105413981	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199812824	chr14:105413985-105413986	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376661887	chr14:105413989-105413990	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201261247	chr14:105413990-105413991	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538038172	chr14:105413992-105413993	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371681161	chr14:105414013-105414014	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554406186	chr14:105414026-105414027	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574429864	chr14:105414027-105414028	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199905726	chr14:105414032-105414033	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200965573	chr14:105414053-105414054	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553770648	chr14:105414056-105414057	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576893354	chr14:105414057-105414058	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369272309	chr14:105414066-105414067	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:74 , 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	chr14:105406800-105421600	Weak transcription	NHLF	lung
14	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
15	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
16	chr14:105407200-105414000	Weak transcription	Spleen	Spleen
17	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:105407600-105419800	Weak transcription	HMEC	breast
20	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
23	chr14:105408000-105421000	Weak transcription	HSMM	muscle
24	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
25	chr14:105408400-105415200	Weak transcription	A549	lung
26	chr14:105408400-105423600	Weak transcription	Gastric	stomach
27	chr14:105408800-105414000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
29	chr14:105410400-105414000	Strong transcription	Colon Smooth Muscle	Colon
30	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:105410800-105415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:105412400-105413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:105412600-105413800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:105412800-105413800	Weak transcription	Fetal Stomach	stomach
37	chr14:105413000-105416400	Strong transcription	Esophagus	oesophagus
38	chr14:105413400-105413800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:105413400-105416200	Strong transcription	NHEK	skin
40	chr14:105413800-105414800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr14:105413800-105415200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:105413800-105417000	Strong transcription	Fetal Stomach	stomach
43	chr14:105413800-105424600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:105414000-105414600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:105414000-105420800	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:105414600-105416400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:105414800-105418000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:105415000-105421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:105415200-105415600	Strong transcription	A549	lung
50	chr14:105415200-105417800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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