Variant report

Variant	esv3380652
Chromosome Location	chr14:68835869-68836400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68834932..68837443-chr14:69252432..69254129,2	MCF-7	breast:
2	chr14:68834296..68836299-chr14:69281257..69283573,2	MCF-7	breast:
3	chr14:68830049..68833032-chr14:68833353..68836919,3	MCF-7	breast:
4	chr14:68762186..68763785-chr14:68835933..68838627,2	K562	blood:
5	chr14:68834081..68836635-chr14:68840807..68842526,2	MCF-7	breast:
6	chr14:68833824..68836435-chr14:69255771..69258211,2	MCF-7	breast:
7	chr14:68833173..68835923-chr14:68849243..68851394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545810652	chr14:68835946-68835947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190160309	chr14:68835947-68835948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs57193434	chr14:68835999-68836000	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181385976	chr14:68836087-68836088	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185963846	chr14:68836117-68836118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544774424	chr14:68836204-68836205	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551849579	chr14:68836242-68836243	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563372369	chr14:68836257-68836258	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530623659	chr14:68836310-68836311	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548740924	chr14:68836322-68836323	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567233526	chr14:68836368-68836369	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10483809	chr14:68836369-68836370	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7154430	chr14:68836372-68836373	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68829600-68837400	Enhancers	Primary hematopoietic stem cells	blood
2	chr14:68829600-68837400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68829800-68837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:68830200-68836200	Enhancers	Fetal Lung	lung
5	chr14:68830600-68836800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:68831600-68836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:68831800-68838400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:68831800-68841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:68832000-68836200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:68832000-68836600	Weak transcription	HSMMtube	muscle
12	chr14:68832000-68843200	Weak transcription	Placenta	Placenta
13	chr14:68832000-68843800	Weak transcription	Ovary	ovary
14	chr14:68832000-68844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:68832000-68851600	Weak transcription	Lung	lung
16	chr14:68832200-68836000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:68832200-68836400	Weak transcription	Stomach Mucosa	stomach
18	chr14:68832200-68836600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:68832200-68836600	Weak transcription	Fetal Intestine Small	intestine
20	chr14:68832200-68837000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:68832200-68838600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:68832200-68841600	Weak transcription	Pancreas	Pancrea
23	chr14:68832200-68844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:68832200-68844200	Weak transcription	Brain Germinal Matrix	brain
25	chr14:68832600-68836400	Weak transcription	HUVEC	blood vessel
26	chr14:68833000-68845200	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:68833200-68836200	Enhancers	Primary B cells from cord blood	blood
28	chr14:68833200-68837000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:68833400-68838600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:68833600-68836800	Weak transcription	HepG2	liver
31	chr14:68833600-68837000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:68833600-68837000	Weak transcription	Esophagus	oesophagus
33	chr14:68833600-68842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:68833800-68836800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:68833800-68838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:68833800-68838800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:68834000-68836000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:68834000-68836800	Enhancers	Primary T cells from cord blood	blood
39	chr14:68834000-68838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:68834000-68843400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:68834200-68837400	Enhancers	Fetal Thymus	thymus
42	chr14:68834400-68836400	Weak transcription	Fetal Stomach	stomach
43	chr14:68834400-68837400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:68834400-68837400	Enhancers	Adipose Nuclei	Adipose
45	chr14:68834400-68841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:68834400-68846400	Weak transcription	Fetal Heart	heart
47	chr14:68834600-68836400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:68834600-68837000	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:68834600-68838400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:68834600-68838600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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