Variant report

Variant	esv1296512
Chromosome Location	chr14:105350930-105351033
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105348832..105350459-chr14:105350760..105352328,2	K562	blood:
2	chr14:105349215..105352197-chr14:105846638..105849114,2	K562	blood:
3	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
4	chr14:105350985..105352976-chr14:105358068..105360801,2	K562	blood:
5	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
6	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
7	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
8	chr14:105349366..105351471-chr14:105398354..105401032,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179364	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9788596	chr14:105350930-105350931	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75379926	chr14:105350938-105350939	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540595003	chr14:105350946-105350947	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560204137	chr14:105350949-105350950	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12891734	chr14:105350976-105350977	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12892011	chr14:105350977-105350978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs77489837	chr14:105350989-105350990	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552403395	chr14:105351003-105351004	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12891752	chr14:105351014-105351015	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs12891753	chr14:105351015-105351016	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375279602	chr14:105351019-105351020	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Cancer	20164919	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
3	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:105339600-105363000	Weak transcription	NH-A	brain
5	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
7	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
11	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
12	chr14:105343200-105351800	Weak transcription	Hela-S3	cervix
13	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
14	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:105343800-105356200	Strong transcription	Lung	lung
16	chr14:105344200-105356000	Strong transcription	Pancreas	Pancrea
17	chr14:105345000-105353200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:105346600-105356000	Strong transcription	Ovary	ovary
19	chr14:105347200-105351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:105347200-105351800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:105347400-105351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:105347400-105351800	Weak transcription	Brain Angular Gyrus	brain
23	chr14:105347400-105352200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:105347400-105352200	Weak transcription	Fetal Lung	lung
25	chr14:105347400-105362400	Weak transcription	HepG2	liver
26	chr14:105347600-105353400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:105347800-105353600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:105348000-105355800	Strong transcription	Brain Germinal Matrix	brain
29	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:105348200-105356200	Strong transcription	Fetal Stomach	stomach
31	chr14:105348400-105356000	Strong transcription	Aorta	Aorta
32	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:105349000-105356000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:105349000-105356000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:105349200-105352200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:105349200-105352200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:105349200-105354600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr14:105349200-105355000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:105349200-105356000	Strong transcription	Gastric	stomach
40	chr14:105349400-105351000	Strong transcription	Spleen	Spleen
41	chr14:105349400-105351600	Weak transcription	A549	lung
42	chr14:105349400-105355400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:105349400-105356000	Strong transcription	Right Ventricle	heart
44	chr14:105349400-105356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:105349600-105354600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:105349600-105354800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:105349600-105355800	Strong transcription	NHEK	skin
49	chr14:105349800-105351000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr14:105350000-105352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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