Variant report

Variant	esv3351035
Chromosome Location	chr14:69410021-69410397
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69407443..69410998-chr14:69427616..69430586,3	MCF-7	breast:
2	chr14:69403151..69404894-chr14:69408526..69410384,2	K562	blood:
3	chr14:69408156..69410097-chr14:69416142..69418245,3	MCF-7	breast:
4	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:
5	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
6	chr14:69378410..69381040-chr14:69408422..69410281,2	K562	blood:
7	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
8	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
9	chr14:69398641..69402402-chr14:69406063..69410861,5	MCF-7	breast:
10	chr14:69403394..69405825-chr14:69407424..69410384,2	K562	blood:
11	chr14:69404468..69406535-chr14:69406823..69410783,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259062	chromatin interactions
ENSG00000072110	chromatin interactions
ENSG00000258531	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188507555	chr14:69410029-69410030	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs142954995	chr14:69410059-69410060	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs571659836	chr14:69410061-69410062	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529504887	chr14:69410063-69410064	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539045645	chr14:69410163-69410164	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs75124823	chr14:69410179-69410180	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192913670	chr14:69410191-69410192	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565987457	chr14:69410209-69410210	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs539753137	chr14:69410229-69410230	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551327934	chr14:69410235-69410236	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72733540	chr14:69410255-69410256	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537529219	chr14:69410256-69410257	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369336567	chr14:69410261-69410262	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs113363660	chr14:69410278-69410279	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs574563400	chr14:69410279-69410280	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535693301	chr14:69410295-69410296	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs185585335	chr14:69410311-69410312	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs554009892	chr14:69410345-69410346	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs75750314	chr14:69410346-69410347	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs17757952	chr14:69410373-69410374	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69397800-69415200	Enhancers	Esophagus	oesophagus
4	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
6	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
7	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
8	chr14:69401800-69412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr14:69402200-69425200	Enhancers	Right Atrium	heart
11	chr14:69402400-69414400	Enhancers	Adipose Nuclei	Adipose
12	chr14:69402400-69416400	Enhancers	Left Ventricle	heart
13	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
14	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:69402600-69410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:69402600-69416600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:69403800-69411400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr14:69404200-69410400	Flanking Active TSS	A549	lung
20	chr14:69404200-69412600	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:69404200-69417000	Enhancers	Right Ventricle	heart
22	chr14:69404400-69411000	Enhancers	Placenta	Placenta
23	chr14:69404400-69411800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:69404600-69410800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:69404600-69412200	Weak transcription	K562	blood
26	chr14:69405000-69415400	Weak transcription	Psoas Muscle	Psoas
27	chr14:69405200-69412400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:69405400-69412600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:69405400-69413600	Enhancers	Liver	Liver
30	chr14:69405800-69412000	Weak transcription	Primary B cells from cord blood	blood
31	chr14:69405800-69412000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:69406000-69413000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:69406400-69412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:69406400-69417800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:69406800-69412200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:69406800-69414400	Genic enhancers	Fetal Intestine Small	intestine
37	chr14:69407000-69411200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:69407000-69414600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:69407000-69414600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:69407000-69419600	Weak transcription	Fetal Brain Male	brain
41	chr14:69407200-69414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:69407400-69416400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:69407800-69410200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:69408000-69410400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:69408000-69410600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69408000-69413800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:69408200-69410200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
48	chr14:69408200-69410600	Genic enhancers	Primary T cells from cord blood	blood
49	chr14:69408200-69411000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:69408200-69411000	Enhancers	HUES48 Cell Line	embryonic stem cell

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