Variant report

Variant	esv1507347
Chromosome Location	chr14:21548396-21548408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21548365-21548543	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:21548244-21548782	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:21548332-21548598	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21543597..21548802-chr14:21549999..21554096,6	MCF-7	breast:
2	chr14:21544049..21545715-chr14:21546531..21548520,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF40	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71112543	chr14:21548397-21548398	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537945727	chr14:21548399-21548400	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs570521467	chr14:21548401-21548402	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559476409	chr14:21548403-21548404	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs3221995	chr14:21548406-21548407	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs28370407	chr14:21548407-21548408	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21540600-21550200	Weak transcription	A549	lung
2	chr14:21540800-21552400	Weak transcription	Fetal Heart	heart
3	chr14:21540800-21554000	Weak transcription	Primary B cells from cord blood	blood
4	chr14:21540800-21554800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:21541000-21552200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:21541000-21552600	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr14:21541000-21554000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21541000-21554400	Strong transcription	Lung	lung
9	chr14:21541000-21555000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:21541000-21555200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:21541000-21555200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:21541000-21555600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:21541200-21548600	Strong transcription	HSMM	muscle
15	chr14:21541200-21552000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:21541200-21552600	Strong transcription	Left Ventricle	heart
17	chr14:21541200-21553000	Strong transcription	HSMMtube	muscle
18	chr14:21541200-21553600	Weak transcription	Small Intestine	intestine
19	chr14:21541200-21554600	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr14:21541200-21555000	Strong transcription	Aorta	Aorta
21	chr14:21541200-21555200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:21541200-21557000	Weak transcription	Hela-S3	cervix
23	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:21541400-21551200	Strong transcription	Rectal Smooth Muscle	rectum
25	chr14:21541400-21551800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:21541400-21552600	Strong transcription	Right Ventricle	heart
27	chr14:21541400-21552800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:21541400-21554400	Strong transcription	NHLF	lung
29	chr14:21541400-21554800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:21541400-21554800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:21541400-21555000	Strong transcription	Brain Germinal Matrix	brain
32	chr14:21541400-21555200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr14:21541400-21555200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr14:21541400-21555200	Strong transcription	Colonic Mucosa	Colon
35	chr14:21541400-21555600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:21541400-21558000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:21541400-21560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:21541400-21560200	Strong transcription	Placenta	Placenta
39	chr14:21541600-21550000	Strong transcription	Liver	Liver
40	chr14:21541600-21551800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:21541600-21552000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:21541600-21552000	Strong transcription	Adipose Nuclei	Adipose
43	chr14:21541600-21552200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:21541600-21552400	Strong transcription	Fetal Intestine Small	intestine
45	chr14:21541600-21552600	Strong transcription	NH-A	brain
46	chr14:21541600-21553400	Strong transcription	Colon Smooth Muscle	Colon
47	chr14:21541600-21553800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:21541600-21555000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr14:21541600-21555200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:21541600-21555200	Strong transcription	Brain Inferior Temporal Lobe	brain

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