Variant report

Variant	esv3529799
Chromosome Location	chr14:105273873-105274825
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	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:
2	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
3	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
4	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
5	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
6	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
7	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
8	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
9	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184990	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000185100	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569985901	chr14:105273875-105273876	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs535119042	chr14:105273901-105273902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs148833706	chr14:105273910-105273911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555208532	chr14:105273915-105273916	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572043596	chr14:105273923-105273924	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143435579	chr14:105273927-105273928	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368981013	chr14:105273947-105273948	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557981152	chr14:105273948-105273949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs577656932	chr14:105273951-105273952	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs111311762	chr14:105273953-105273954	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs56380769	chr14:105273968-105273969	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543466072	chr14:105273978-105273979	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs563244533	chr14:105273991-105273992	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs28534942	chr14:105274029-105274030	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12883512	chr14:105274041-105274042	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113443754	chr14:105274067-105274068	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs56140226	chr14:105274093-105274094	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs112633574	chr14:105274105-105274106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113688457	chr14:105274257-105274258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs55983264	chr14:105274314-105274315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372936860	chr14:105274447-105274448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35636289	chr14:105274561-105274562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376200993	chr14:105274675-105274676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12888828	chr14:105274713-105274714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12888969	chr14:105274751-105274752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141584190	chr14:105274763-105274764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528036614	chr14:105274769-105274770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547663899	chr14:105274770-105274771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28690313	chr14:105274789-105274790	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74090040	chr14:105274801-105274802	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570067019	chr14:105274804-105274805	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535441766	chr14:105274812-105274813	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	19587683	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105268000-105280400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:105268000-105281000	Weak transcription	Brain Substantia Nigra	brain
3	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
4	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:105268800-105281000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:105269000-105279800	Weak transcription	Brain Germinal Matrix	brain
9	chr14:105269000-105280400	Weak transcription	GM12878-XiMat	blood
10	chr14:105269200-105280800	Weak transcription	Fetal Intestine Large	intestine
11	chr14:105269800-105281400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:105270000-105280600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:105270000-105281400	Weak transcription	Colonic Mucosa	Colon
14	chr14:105270400-105280200	Weak transcription	Fetal Brain Female	brain
15	chr14:105271000-105280800	Weak transcription	Fetal Intestine Small	intestine
16	chr14:105272000-105280000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:105272200-105277000	Weak transcription	Fetal Stomach	stomach
18	chr14:105272200-105280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:105272200-105281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:105272200-105281400	Weak transcription	Esophagus	oesophagus
21	chr14:105272200-105281400	Weak transcription	Fetal Lung	lung
22	chr14:105272400-105280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:105272400-105280400	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:105272400-105281400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:105272400-105281400	Weak transcription	NHLF	lung
26	chr14:105272600-105276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:105272600-105277000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:105272600-105280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:105272600-105280600	Weak transcription	Fetal Heart	heart
30	chr14:105272600-105281000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:105272600-105281400	Weak transcription	A549	lung
32	chr14:105272600-105281600	Weak transcription	Ovary	ovary
33	chr14:105272800-105280000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:105272800-105280000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:105272800-105281000	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:105273000-105281000	Weak transcription	Lung	lung
37	chr14:105273200-105274800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:105273200-105274800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:105273200-105274800	Weak transcription	Pancreas	Pancrea
40	chr14:105273400-105275000	Weak transcription	Stomach Mucosa	stomach
41	chr14:105273600-105274000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:105273800-105274000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr14:105273800-105274000	Enhancers	Brain Anterior Caudate	brain
44	chr14:105273800-105279800	Weak transcription	Spleen	Spleen
45	chr14:105273800-105280400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:105274000-105280400	Weak transcription	Brain Anterior Caudate	brain
47	chr14:105274000-105280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:105274800-105275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:105274800-105275200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:105274800-105275200	Enhancers	Pancreas	Pancrea

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