Variant report

Variant	nsv977470
Chromosome Location	chr14:55858644-55862313
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	CEBPB	chr14:55860780-55860794	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55862301..55864393-chr14:55864806..55866499,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBPL2-2	chr14:55861658-55861951	NONHSAT037008

Variant related genes	Relation type
ATG14	TF binding region
ENSG00000259318	TF binding region

Extended variants
information (count: 140 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549286665	chr14:55858665-55858666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541220742	chr14:55858673-55858674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185542946	chr14:55858699-55858700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147713314	chr14:55858702-55858703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556202324	chr14:55858721-55858722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190007914	chr14:55858790-55858791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538763486	chr14:55858872-55858873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554041910	chr14:55858912-55858913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372879577	chr14:55858938-55858939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542932677	chr14:55859012-55859013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376104094	chr14:55859033-55859034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560890948	chr14:55859042-55859043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561673312	chr14:55859091-55859092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34161585	chr14:55859123-55859124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530017351	chr14:55859187-55859188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377172967	chr14:55859211-55859212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576020095	chr14:55859228-55859229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113584038	chr14:55859281-55859282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370429080	chr14:55859318-55859319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371618851	chr14:55859320-55859321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183193561	chr14:55859328-55859329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541854694	chr14:55859358-55859359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5017342	chr14:55859362-55859363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374136441	chr14:55859386-55859387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532435318	chr14:55859410-55859411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547519158	chr14:55859435-55859436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187722111	chr14:55859461-55859462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537766921	chr14:55859470-55859471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117628317	chr14:55859499-55859500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569300999	chr14:55859503-55859504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4901557	chr14:55859556-55859557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369940987	chr14:55859560-55859561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144265380	chr14:55859786-55859787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566784502	chr14:55859803-55859804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538137341	chr14:55859825-55859826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147773101	chr14:55859827-55859828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571282388	chr14:55859829-55859830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538723975	chr14:55859837-55859838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553862012	chr14:55859866-55859867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376904570	chr14:55859870-55859871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7143817	chr14:55859874-55859875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113762052	chr14:55859875-55859876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143440915	chr14:55859895-55859896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543729004	chr14:55859900-55859901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558511443	chr14:55859906-55859907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576853762	chr14:55859907-55859908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541162585	chr14:55859908-55859909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559838024	chr14:55859910-55859911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530144209	chr14:55859912-55859913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386777724	chr14:55859916-55859917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
7	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
9	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:55848800-55861000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:55848800-55861200	Weak transcription	Small Intestine	intestine
13	chr14:55848800-55861800	Weak transcription	HUVEC	blood vessel
14	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:55849800-55865200	Weak transcription	A549	lung
19	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
20	chr14:55850800-55861400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:55850800-55865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:55850800-55865400	Weak transcription	Aorta	Aorta
23	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
24	chr14:55851600-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:55852000-55859600	Strong transcription	Adipose Nuclei	Adipose
26	chr14:55852000-55861000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:55852400-55859200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:55852400-55865400	Weak transcription	Colonic Mucosa	Colon
30	chr14:55852800-55865200	Weak transcription	NHEK	skin
31	chr14:55853000-55865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:55853400-55861200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:55853600-55865600	Weak transcription	Fetal Kidney	kidney
35	chr14:55853800-55861200	Weak transcription	Thymus	Thymus
36	chr14:55854000-55861200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:55854000-55861200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:55854000-55868400	Weak transcription	Gastric	stomach
39	chr14:55854200-55861200	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:55854200-55861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:55854200-55866400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:55854200-55871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:55854400-55865400	Weak transcription	Brain Substantia Nigra	brain
44	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:55855000-55859000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:55855200-55862200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:55855400-55859400	Strong transcription	Lung	lung
48	chr14:55855400-55865200	Weak transcription	HMEC	breast
49	chr14:55855800-55865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:55855800-55865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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