Variant report

Variant	esv3379326
Chromosome Location	chr14:71701349-71703347
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	chr14:71700024..71702819-chr14:71710024..71711999,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548928732	chr14:71701376-71701377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568181107	chr14:71701449-71701450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562227523	chr14:71701472-71701473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538258240	chr14:71701476-71701477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553894013	chr14:71701500-71701501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115016654	chr14:71701549-71701550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539458047	chr14:71701649-71701650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112989369	chr14:71701658-71701659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190344087	chr14:71701662-71701663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111878302	chr14:71701696-71701697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11158900	chr14:71701710-71701711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs182863786	chr14:71701748-71701749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541127060	chr14:71701770-71701771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187950350	chr14:71701781-71701782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532918178	chr14:71701788-71701789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544682549	chr14:71701823-71701824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192419850	chr14:71701841-71701842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530730524	chr14:71701842-71701843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61989234	chr14:71701858-71701859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566798092	chr14:71701874-71701875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36034587	chr14:71701916-71701917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560746603	chr14:71701935-71701936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528309976	chr14:71702057-71702058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552399749	chr14:71702074-71702075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374640466	chr14:71702077-71702078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113344500	chr14:71702091-71702092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61989235	chr14:71702094-71702095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375886166	chr14:71702096-71702097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373864919	chr14:71702098-71702099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547444155	chr14:71702102-71702103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61989236	chr14:71702105-71702106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61989237	chr14:71702111-71702112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369991789	chr14:71702113-71702114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371735139	chr14:71702129-71702130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368548598	chr14:71702131-71702132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376653329	chr14:71702143-71702144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71305839	chr14:71702144-71702145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370719680	chr14:71702146-71702147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183751913	chr14:71702175-71702176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368767062	chr14:71702195-71702196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187727798	chr14:71702205-71702206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192744569	chr14:71702206-71702207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373955378	chr14:71702214-71702215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28607364	chr14:71702223-71702224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28603175	chr14:71702224-71702225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184685543	chr14:71702241-71702242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190019750	chr14:71702246-71702247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181726923	chr14:71702254-71702255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570064442	chr14:71702280-71702281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28454297	chr14:71702332-71702333	Weak transcription 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	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71680600-71702600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:71695600-71702600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:71695800-71709400	Weak transcription	Pancreas	Pancrea
4	chr14:71699000-71702600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:71699000-71702600	Weak transcription	Esophagus	oesophagus
6	chr14:71699000-71702600	Weak transcription	Right Atrium	heart
7	chr14:71699200-71702600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:71699600-71702600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:71699600-71702600	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:71699600-71707400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:71701000-71701400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:71701000-71701400	Enhancers	Brain Germinal Matrix	brain
13	chr14:71701000-71702800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:71701200-71701400	Enhancers	Fetal Brain Female	brain
15	chr14:71701200-71702600	Weak transcription	Stomach Mucosa	stomach
16	chr14:71701400-71702400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:71701400-71702400	Weak transcription	Brain Germinal Matrix	brain
18	chr14:71701600-71702600	Weak transcription	Fetal Brain Female	brain
19	chr14:71701800-71702600	Weak transcription	Spleen	Spleen
20	chr14:71702400-71702600	Enhancers	Brain Anterior Caudate	brain
21	chr14:71702400-71702800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:71702400-71702800	Enhancers	Brain Germinal Matrix	brain
23	chr14:71702400-71702800	Enhancers	NHDF-Ad	bronchial
24	chr14:71702400-71703200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:71702600-71702800	Enhancers	Aorta	Aorta
26	chr14:71702600-71702800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr14:71702600-71702800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr14:71702600-71702800	Active TSS	Brain Hippocampus Middle	brain
29	chr14:71702600-71702800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr14:71702600-71702800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:71702600-71702800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:71702600-71702800	Enhancers	Spleen	Spleen
33	chr14:71702600-71703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:71702600-71703000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:71702600-71703000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:71702600-71703000	Enhancers	Esophagus	oesophagus
37	chr14:71702600-71703000	Enhancers	Right Atrium	heart
38	chr14:71702600-71703200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:71702600-71703200	Enhancers	Adipose Nuclei	Adipose
40	chr14:71702600-71703200	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:71702600-71703200	Enhancers	Brain Substantia Nigra	brain
42	chr14:71702600-71703400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr14:71702600-71703400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:71702600-71703400	Enhancers	Fetal Lung	lung
45	chr14:71702600-71703600	Enhancers	Fetal Brain Female	brain
46	chr14:71702600-71703600	Enhancers	Fetal Muscle Leg	muscle
47	chr14:71702600-71703600	Enhancers	Stomach Mucosa	stomach
48	chr14:71702600-71703600	Enhancers	NHEK	skin
49	chr14:71702600-71704000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:71702800-71703000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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