Variant report

Variant	nsv977501
Chromosome Location	chr14:97031702-97032985
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:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:97032756..97036569-chr14:97036806..97040099,4	K562	blood:
2	chr14:97030602..97033303-chr14:97033642..97035609,3	K562	blood:
3	chr14:95522595..95523324-chr14:97032688..97033240,2	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PAPOLA	hsa-miR-93-5p	chr14:97031753-97031759
2	PAPOLA	hsa-miR-93-5p	chr14:97031736-97031760
3	PAPOLA	hsa-miR-320a	chr14:97031785-97031808

Extended variants
information (count: 60 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528633636	chr14:97031765-97031766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374418175	chr14:97031777-97031778	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189750990	chr14:97031797-97031798	Weak transcription Strong transcription Genic enhancers Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
4	rs551208037	chr14:97031856-97031857	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144198084	chr14:97031878-97031879	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536971001	chr14:97031901-97031902	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548152130	chr14:97031915-97031916	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566308396	chr14:97031924-97031925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376169699	chr14:97031930-97031931	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572928393	chr14:97031934-97031935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545093490	chr14:97031935-97031936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192768749	chr14:97031961-97031962	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115504079	chr14:97031973-97031974	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565275755	chr14:97031976-97031977	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555987441	chr14:97031977-97031978	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7492490	chr14:97031999-97032000	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371598117	chr14:97032024-97032025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541757253	chr14:97032027-97032028	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560413987	chr14:97032128-97032129	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146649353	chr14:97032131-97032132	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540627509	chr14:97032155-97032156	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548473882	chr14:97032162-97032163	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565196687	chr14:97032177-97032178	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80077155	chr14:97032182-97032183	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398057423	chr14:97032187-97032188	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74086723	chr14:97032190-97032191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543255654	chr14:97032203-97032204	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544795753	chr14:97032230-97032231	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529581590	chr14:97032245-97032246	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77502443	chr14:97032247-97032248	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563569710	chr14:97032255-97032256	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188029262	chr14:97032273-97032274	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529220529	chr14:97032302-97032303	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143862749	chr14:97032362-97032363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567155698	chr14:97032373-97032374	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180886070	chr14:97032389-97032390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552190713	chr14:97032392-97032393	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570210391	chr14:97032394-97032395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184680822	chr14:97032397-97032398	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555925899	chr14:97032411-97032412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559370684	chr14:97032415-97032416	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568672116	chr14:97032451-97032452	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367736414	chr14:97032453-97032454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567882203	chr14:97032454-97032455	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190583549	chr14:97032456-97032457	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535662449	chr14:97032462-97032463	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181753175	chr14:97032553-97032554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146853052	chr14:97032636-97032637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374436161	chr14:97032656-97032657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140537464	chr14:97032661-97032662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:97002600-97033800	Weak transcription	Fetal Brain Male	brain
4	chr14:97006400-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:97007600-97035200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr14:97007600-97036000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:97007800-97034800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:97008000-97036000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:97008200-97033800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:97008200-97035800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:97008200-97039400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:97008400-97033400	Strong transcription	Placenta	Placenta
13	chr14:97008400-97033600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:97008400-97035200	Strong transcription	Dnd41	blood
15	chr14:97008400-97038400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:97008600-97033200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:97008600-97033800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:97008600-97037000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:97008600-97040200	Strong transcription	Fetal Thymus	thymus
20	chr14:97008800-97033000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:97009600-97034200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr14:97009600-97037200	Strong transcription	HSMM	muscle
23	chr14:97010200-97040200	Strong transcription	Primary B cells from cord blood	blood
24	chr14:97011400-97034200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:97016800-97039200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:97017400-97032600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:97017400-97035400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:97018400-97034400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:97018600-97032000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:97018600-97032600	Strong transcription	Adipose Nuclei	Adipose
31	chr14:97019600-97042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:97019800-97038800	Weak transcription	Small Intestine	intestine
33	chr14:97020200-97039400	Weak transcription	Psoas Muscle	Psoas
34	chr14:97020200-97039600	Weak transcription	Gastric	stomach
35	chr14:97020200-97042600	Weak transcription	Esophagus	oesophagus
36	chr14:97020400-97040400	Weak transcription	Aorta	Aorta
37	chr14:97020400-97042800	Weak transcription	Spleen	Spleen
38	chr14:97020800-97040800	Weak transcription	Colonic Mucosa	Colon
39	chr14:97021000-97034200	Weak transcription	Stomach Mucosa	stomach
40	chr14:97022400-97032000	Strong transcription	GM12878-XiMat	blood
41	chr14:97022800-97036600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:97023200-97039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:97023200-97040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:97023200-97046400	Weak transcription	K562	blood
45	chr14:97023400-97036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:97023600-97031800	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:97023600-97041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:97023600-97043200	Weak transcription	Right Ventricle	heart

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