Variant report

Variant	nsv519957
Chromosome Location	chr14:78208294-78211225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:78211225-78211232	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXA2	chr14:78211201-78211481	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:78173262..78175307-chr14:78210761..78212692,2	MCF-7	breast:
2	chr14:78172983..78174870-chr14:78210462..78212867,2	MCF-7	breast:
3	chr14:78208675..78210244-chr14:78222102..78225060,2	K562	blood:
4	chr14:78211090..78212775-chr14:78225725..78227618,2	MCF-7	breast:
5	chr14:78206025..78208358-chr14:78225677..78227652,2	K562	blood:

No data

Variant related genes	Relation type
SNW1	TF binding region
ENSG00000100601	chromatin interactions
ENSG00000119705	chromatin interactions
ENSG00000197734	chromatin interactions
ENSG00000100603	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7155062	chr14:78208294-78208295	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74805936	chr14:78208305-78208306	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552233523	chr14:78208340-78208341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569112979	chr14:78208348-78208349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555219526	chr14:78208372-78208373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35732517	chr14:78208378-78208379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562671623	chr14:78208418-78208419	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369164294	chr14:78208419-78208420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142051467	chr14:78208428-78208429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534395094	chr14:78208435-78208436	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574800945	chr14:78208436-78208437	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76062867	chr14:78208468-78208469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs553121881	chr14:78208536-78208537	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573177020	chr14:78208568-78208569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577724697	chr14:78208598-78208599	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545214927	chr14:78208614-78208615	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565038543	chr14:78208647-78208648	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4899674	chr14:78208756-78208757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139916587	chr14:78208791-78208792	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114668788	chr14:78208883-78208884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10137746	chr14:78208914-78208915	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547249620	chr14:78208937-78208938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151217788	chr14:78208979-78208980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139215219	chr14:78209019-78209020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552347990	chr14:78209035-78209036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542594768	chr14:78209038-78209039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375581561	chr14:78209046-78209047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8022516	chr14:78209066-78209067	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537906756	chr14:78209067-78209068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183554200	chr14:78209081-78209082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568241139	chr14:78209102-78209103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114182496	chr14:78209104-78209105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187856709	chr14:78209136-78209137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117334415	chr14:78209205-78209206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116412505	chr14:78209209-78209210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532585323	chr14:78209241-78209242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558485247	chr14:78209255-78209256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35657726	chr14:78209334-78209335	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544274500	chr14:78209335-78209336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147565756	chr14:78209357-78209358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527727293	chr14:78209406-78209407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199822836	chr14:78209411-78209412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375219496	chr14:78209459-78209460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540612166	chr14:78209485-78209486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560836804	chr14:78209512-78209513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9743465	chr14:78209561-78209562	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552217641	chr14:78209564-78209565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11340395	chr14:78209605-78209606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569557147	chr14:78209634-78209635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192293467	chr14:78209647-78209648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
8	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
13	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:78177200-78223800	Strong transcription	Dnd41	blood
16	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:78190600-78213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:78192200-78215400	Weak transcription	Small Intestine	intestine
19	chr14:78196200-78217800	Strong transcription	Fetal Stomach	stomach
20	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:78199200-78212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:78199200-78215800	Weak transcription	Esophagus	oesophagus
23	chr14:78199400-78211800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
25	chr14:78200800-78212800	Strong transcription	Primary T cells from cord blood	blood
26	chr14:78201200-78212600	Weak transcription	Gastric	stomach
27	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:78203400-78215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:78203400-78217400	Weak transcription	Aorta	Aorta
30	chr14:78203800-78208800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:78203800-78211000	Weak transcription	HMEC	breast
32	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
33	chr14:78204000-78212000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:78204000-78215200	Weak transcription	Hela-S3	cervix
35	chr14:78205000-78211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:78205000-78213800	Weak transcription	Colonic Mucosa	Colon
37	chr14:78205000-78215800	Weak transcription	Right Ventricle	heart
38	chr14:78205000-78216000	Weak transcription	Psoas Muscle	Psoas
39	chr14:78205200-78208600	Weak transcription	Fetal Brain Female	brain
40	chr14:78205200-78209800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:78205200-78209800	Weak transcription	A549	lung
42	chr14:78205200-78210000	Weak transcription	Brain Germinal Matrix	brain
43	chr14:78205200-78211000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:78205200-78211000	Weak transcription	Fetal Kidney	kidney
45	chr14:78205200-78211400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:78205200-78213600	Weak transcription	Ovary	ovary
47	chr14:78205200-78213800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:78205200-78213800	Weak transcription	Pancreas	Pancrea
49	chr14:78205200-78213800	Weak transcription	Spleen	Spleen
50	chr14:78205400-78209200	Weak transcription	H9 Cell Line	embryonic stem cell

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