Variant report

Variant	nsv520900
Chromosome Location	chr14:35019174-35021890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr14:35019466-35019706	GM12878	blood:	n/a	n/a
2	BCL3	chr14:35019520-35019728	GM12878	blood:	n/a	n/a
3	E2F4	chr14:35020741-35020795	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:35021720-35024608	IMR90	lung:	n/a	n/a
5	POLR2A	chr14:35016922-35021427	IMR90	lung:	n/a	n/a
6	ZNF384	chr14:35020068-35020290	GM12878	blood:	n/a	n/a
7	ZNF384	chr14:35020149-35020361	K562	blood:	n/a	n/a

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:35018077..35020171-chr14:35160382..35163154,2	MCF-7	breast:
2	chr14:35015687..35019377-chr17:57914775..57917596,3	MCF-7	breast:
3	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
4	chr14:34791536..34796639-chr14:35020421..35025152,7	MCF-7	breast:
5	chr14:35017489..35019232-chr14:35116363..35118749,2	MCF-7	breast:
6	chr14:35021679..35023694-chr16:1828982..1831447,2	MCF-7	breast:
7	chr14:34851992..34854848-chr14:35021871..35024869,2	MCF-7	breast:
8	chr14:35018167..35021076-chr14:35903929..35905498,2	MCF-7	breast:
9	chr14:34817224..34820374-chr14:35020993..35024037,3	K562	blood:
10	chr14:35020668..35023611-chr14:36084752..36086874,2	MCF-7	breast:
11	chr14:34929752..34932911-chr14:35018706..35021563,3	K562	blood:
12	chr14:35019137..35020709-chr14:35232783..35235542,2	MCF-7	breast:
13	chr14:34971305..34972902-chr14:35021634..35023858,2	MCF-7	breast:
14	chr14:35018037..35019853-chr6:146055203..146057690,2	MCF-7	breast:
15	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
16	chr14:34882267..34884337-chr14:35018117..35021042,2	K562	blood:
17	chr12:116990998..116993125-chr14:35021867..35023994,2	MCF-7	breast:
18	chr14:35016252..35019435-chr14:35175626..35179365,3	MCF-7	breast:
19	chr14:35021812..35023626-chr17:47169376..47171228,2	MCF-7	breast:
20	chr14:34815903..34818513-chr14:35017360..35019871,2	K562	blood:
21	chr14:34994005..34996039-chr14:35018273..35019787,2	MCF-7	breast:
22	chr14:35016499..35019288-chr14:35182699..35184219,2	MCF-7	breast:
23	chr14:34930890..34932911-chr14:35017228..35020206,2	K562	blood:
24	chr14:35020548..35024386-chr17:56708043..56710466,4	MCF-7	breast:
25	chr14:34640612..34643413-chr14:35021769..35023501,2	MCF-7	breast:
26	chr14:35002309..35005186-chr14:35018776..35021150,2	MCF-7	breast:
27	chr14:35009037..35010904-chr14:35021766..35024411,2	K562	blood:
28	chr10:37086414..37088281-chr14:35019709..35021701,2	MCF-7	breast:
29	chr14:34846670..34848998-chr14:35021037..35023983,2	MCF-7	breast:
30	chr14:34777776..34779599-chr14:35021334..35023953,2	MCF-7	breast:
31	chr14:35020945..35023593-chr2:24018372..24020896,2	MCF-7	breast:
32	chr14:35006425..35010904-chr14:35021704..35025428,9	K562	blood:
33	chr14:35021191..35023610-chr14:35210750..35213558,2	MCF-7	breast:
34	chr14:35021873..35025554-chr14:36138960..36142649,3	MCF-7	breast:
35	chr14:35017271..35020208-chr14:35082278..35083991,2	MCF-7	breast:
36	chr14:34800052..34803596-chr14:35017115..35019908,4	MCF-7	breast:
37	chr14:34940069..34942604-chr14:35019168..35021775,2	MCF-7	breast:
38	chr14:34963976..34965714-chr14:35019570..35022197,2	MCF-7	breast:
39	chr14:35020979..35022953-chr3:119781359..119783022,2	MCF-7	breast:
40	chr14:34801000..34803505-chr14:35018421..35020509,2	K562	blood:
41	chr14:34836739..34838554-chr14:35017235..35019391,2	MCF-7	breast:
42	chr14:35021731..35025689-chr14:35181986..35186273,4	MCF-7	breast:
43	chr10:102756163..102758434-chr14:35017700..35019689,2	MCF-7	breast:
44	chr14:35005506..35011243-chr14:35020994..35025666,12	MCF-7	breast:
45	chr14:34920582..34922864-chr14:35018787..35021782,2	K562	blood:
46	chr14:35020399..35022403-chr17:56735599..56738155,2	MCF-7	breast:
47	chr14:35019582..35021170-chr14:35048871..35051067,2	MCF-7	breast:
48	chr14:34851488..34853508-chr14:35021790..35024186,2	MCF-7	breast:
49	chr14:35005592..35010362-chr14:35016916..35020262,4	K562	blood:
50	chr14:35018094..35020789-chr14:36208643..36210468,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259135	TF binding region
ENSG00000258612	TF binding region
ENSG00000112425	chromatin interactions
ENSG00000165410	chromatin interactions
ENSG00000107816	chromatin interactions
ENSG00000129521	chromatin interactions
ENSG00000270638	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000165389	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4304943	chr14:35019174-35019175	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563578378	chr14:35019200-35019201	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs532515219	chr14:35019204-35019205	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs552424441	chr14:35019240-35019241	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs145827361	chr14:35019354-35019355	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs559811384	chr14:35019361-35019362	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs528549649	chr14:35019362-35019363	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs539827897	chr14:35019378-35019379	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs568660885	chr14:35019399-35019400	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs537789069	chr14:35019410-35019411	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs551237453	chr14:35019411-35019412	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs564678807	chr14:35019468-35019469	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs528736607	chr14:35019471-35019472	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs538645648	chr14:35019502-35019503	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs190416542	chr14:35019536-35019537	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs565438310	chr14:35019539-35019540	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs146165150	chr14:35019555-35019556	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs373595649	chr14:35019569-35019570	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs554380524	chr14:35019593-35019594	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs8018056	chr14:35019594-35019595	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138961502	chr14:35019632-35019633	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs557205255	chr14:35019648-35019649	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs577027930	chr14:35019729-35019730	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs79276664	chr14:35019739-35019740	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs181508527	chr14:35019754-35019755	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs4268668	chr14:35019767-35019768	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs542340187	chr14:35019812-35019813	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs186573985	chr14:35019819-35019820	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs142146524	chr14:35019857-35019858	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs529270802	chr14:35019884-35019885	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs550975228	chr14:35019888-35019889	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs190009715	chr14:35019890-35019891	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs369045743	chr14:35019894-35019895	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs552158022	chr14:35019914-35019915	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs565325182	chr14:35019934-35019935	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs534455530	chr14:35019937-35019938	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs34535159	chr14:35019946-35019947	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs55695625	chr14:35019948-35019949	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567947922	chr14:35019950-35019951	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs185210026	chr14:35019992-35019993	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs537265666	chr14:35020012-35020013	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs11845895	chr14:35020016-35020017	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs150525323	chr14:35020023-35020024	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs559730080	chr14:35020041-35020042	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs370936521	chr14:35020044-35020045	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112676256	chr14:35020058-35020059	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs375771398	chr14:35020070-35020071	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs553380342	chr14:35020117-35020118	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs28440908	chr14:35020120-35020121	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370686729	chr14:35020152-35020153	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35009000-35033000	Weak transcription	Gastric	stomach
2	chr14:35009600-35022200	Weak transcription	Fetal Intestine Large	intestine
3	chr14:35009600-35023800	Weak transcription	Right Atrium	heart
4	chr14:35017000-35020400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:35017000-35020400	Enhancers	Dnd41	blood
6	chr14:35017200-35019200	Enhancers	Liver	Liver
7	chr14:35017400-35023200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:35017400-35023400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:35017400-35023400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:35017400-35023400	Weak transcription	Pancreas	Pancrea
11	chr14:35017400-35023400	Weak transcription	A549	lung
12	chr14:35017400-35023400	Weak transcription	K562	blood
13	chr14:35017400-35023600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:35017400-35023800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:35017400-35023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:35017400-35023800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:35017400-35036000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:35017800-35023400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:35017800-35023400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:35017800-35023400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:35017800-35023800	Weak transcription	Thymus	Thymus
22	chr14:35018000-35019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:35018000-35019600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:35018000-35023200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:35018000-35023200	Weak transcription	HepG2	liver
26	chr14:35018000-35023600	Weak transcription	Primary T cells from cord blood	blood
27	chr14:35018000-35023600	Weak transcription	Spleen	Spleen
28	chr14:35018000-35023800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:35018200-35023400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:35018200-35023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:35018400-35019200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:35018400-35023200	Weak transcription	Hela-S3	cervix
33	chr14:35018400-35023400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:35018400-35023600	Weak transcription	HSMM	muscle
35	chr14:35018400-35023800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:35018600-35019400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:35019000-35019200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr14:35019000-35019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:35019000-35019200	Enhancers	Fetal Brain Male	brain
40	chr14:35019000-35019200	Enhancers	Fetal Thymus	thymus
41	chr14:35019000-35023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:35019200-35019800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:35019200-35020200	Weak transcription	Liver	Liver
44	chr14:35019200-35023200	Weak transcription	Fetal Thymus	thymus
45	chr14:35019200-35023600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:35019400-35023200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:35019600-35020000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:35019600-35020400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr14:35019800-35021800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:35020000-35023600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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