Variant report

Variant	nsv977417
Chromosome Location	chr14:68279123-68279846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68268943..68273622-chr14:68274476..68281746,8	K562	blood:
2	chr14:68269014..68270587-chr14:68276368..68279364,2	MCF-7	breast:
3	chr14:68278353..68281168-chr14:68281587..68284605,5	K562	blood:

Variant related genes	Relation type
ENSG00000072121	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554155117	chr14:68279158-68279159	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140274743	chr14:68279235-68279236	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540028283	chr14:68279296-68279297	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558392460	chr14:68279301-68279302	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576966266	chr14:68279321-68279322	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181564	chr14:68279356-68279357	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571644707	chr14:68279377-68279378	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574332890	chr14:68279417-68279418	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541835408	chr14:68279463-68279464	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560181844	chr14:68279548-68279549	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527622306	chr14:68279587-68279588	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545555609	chr14:68279621-68279622	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113172609	chr14:68279638-68279639	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74751963	chr14:68279662-68279663	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189621572	chr14:68279681-68279682	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532681933	chr14:68279715-68279716	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550022172	chr14:68279764-68279765	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568574574	chr14:68279770-68279771	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529251059	chr14:68279788-68279789	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs117262915	chr14:68279793-68279794	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566334342	chr14:68279805-68279806	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540140249	chr14:68279814-68279815	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68213800-68280600	Strong transcription	Liver	Liver
6	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
8	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:68226800-68280800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:68229200-68281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:68229800-68281000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:68230800-68280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:68231600-68280800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:68232200-68279600	Strong transcription	Fetal Intestine Large	intestine
22	chr14:68232600-68280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:68232800-68280800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:68233800-68280800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:68233800-68280800	Strong transcription	Placenta	Placenta
26	chr14:68234200-68280200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:68234600-68280200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:68252200-68280400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:68254600-68281000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:68259000-68280600	Strong transcription	Adipose Nuclei	Adipose
31	chr14:68259000-68280800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:68259200-68280800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:68259200-68281000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:68259800-68280400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr14:68260000-68280200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:68260000-68280800	Strong transcription	Dnd41	blood
37	chr14:68265800-68282200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:68267800-68279600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:68268400-68280800	Strong transcription	NH-A	brain
40	chr14:68270400-68280800	Strong transcription	HUVEC	blood vessel
41	chr14:68271400-68282000	Weak transcription	Stomach Mucosa	stomach
42	chr14:68271800-68281600	Weak transcription	Fetal Heart	heart
43	chr14:68271800-68282200	Weak transcription	K562	blood
44	chr14:68272400-68281600	Weak transcription	HMEC	breast
45	chr14:68272400-68282200	Weak transcription	Small Intestine	intestine
46	chr14:68273200-68281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:68273600-68280800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:68273800-68280800	Strong transcription	Osteobl	bone
49	chr14:68274000-68281000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:68274400-68279600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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