Variant report

Variant	esv3402532
Chromosome Location	chr14:70721349-70722397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70519745..70521992-chr14:70721079..70723653,2	MCF-7	breast:
2	chr14:70716825..70718477-chr14:70720427..70722449,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10137313	chr14:70721363-70721364	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543482806	chr14:70721370-70721371	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561664407	chr14:70721372-70721373	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182666936	chr14:70721405-70721406	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs113895212	chr14:70721408-70721409	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs143956676	chr14:70721412-70721413	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs533382016	chr14:70721440-70721441	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs111740361	chr14:70721453-70721454	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs139327074	chr14:70721471-70721472	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs570087492	chr14:70721484-70721485	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs188138209	chr14:70721494-70721495	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs549015806	chr14:70721507-70721508	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs372619813	chr14:70721512-70721513	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs11623909	chr14:70721516-70721517	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553667270	chr14:70721551-70721552	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs7156311	chr14:70721661-70721662	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565937215	chr14:70721741-70721742	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539285210	chr14:70721742-70721743	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557923482	chr14:70721787-70721788	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543545921	chr14:70721828-70721829	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7156521	chr14:70721847-70721848	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184457992	chr14:70721899-70721900	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540996373	chr14:70721913-70721914	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564198318	chr14:70721927-70721928	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559822252	chr14:70721937-70721938	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372172079	chr14:70721950-70721951	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533663648	chr14:70721963-70721964	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545319548	chr14:70721980-70721981	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2332275	chr14:70721998-70721999	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563904314	chr14:70722027-70722028	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs114889062	chr14:70722036-70722037	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs376744871	chr14:70722056-70722057	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs112090292	chr14:70722060-70722061	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs531371232	chr14:70722089-70722090	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs567390399	chr14:70722123-70722124	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs549794321	chr14:70722159-70722160	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs528490583	chr14:70722219-70722220	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117751927	chr14:70722233-70722234	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565874165	chr14:70722311-70722312	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148206670	chr14:70722322-70722323	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141153767	chr14:70722323-70722324	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375742494	chr14:70722332-70722333	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189262051	chr14:70722339-70722340	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192494088	chr14:70722341-70722342	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150735072	chr14:70722343-70722344	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185527189	chr14:70722345-70722346	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190400372	chr14:70722352-70722353	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578221792	chr14:70722356-70722357	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115649878	chr14:70722357-70722358	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563788417	chr14:70722359-70722360	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70721000-70721600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:70721000-70722000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:70721000-70722200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:70721000-70722200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:70721000-70722200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:70721000-70722200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr14:70721000-70722200	Active TSS	HepG2	liver
8	chr14:70721000-70722600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:70721000-70722800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:70721000-70722800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr14:70721000-70724000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:70721200-70721400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70721200-70721400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:70721200-70721400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:70721200-70721400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:70721200-70721400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:70721200-70721400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr14:70721200-70721400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr14:70721200-70721400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
22	chr14:70721200-70721400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:70721200-70721400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
32	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr14:70721200-70721400	Bivalent Enhancer	Brain Substantia Nigra	brain
34	chr14:70721200-70721400	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr14:70721200-70721400	Flanking Active TSS	Fetal Kidney	kidney
36	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr14:70721200-70721400	Bivalent/Poised TSS	Left Ventricle	heart
41	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
42	chr14:70721200-70721400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr14:70721200-70721400	Flanking Active TSS	Right Ventricle	heart
44	chr14:70721200-70721400	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
46	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	NH-A	brain
48	chr14:70721200-70721400	Flanking Bivalent TSS/Enh	NHEK	skin
49	chr14:70721200-70721600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:70721200-70721600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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