Variant report

Variant	nsv902043
Chromosome Location	chr14:67217091-67271241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67224984-67225061	HepG2	liver:	n/a	n/a
2	ATF2	chr14:67218740-67219290	GM12878	blood:	n/a	n/a
3	ATF2	chr14:67218758-67219207	GM12878	blood:	n/a	n/a
4	BATF	chr14:67218719-67219305	GM12878	blood:	n/a	n/a
5	BATF	chr14:67218778-67219263	GM12878	blood:	n/a	n/a
6	BCL11A	chr14:67219021-67219287	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:67218813-67219271	GM12878	blood:	n/a	n/a
8	BHLHE40	chr14:67218905-67219220	GM12878	blood:	n/a	n/a
9	CEBPB	chr14:67237118-67237434	Hela-S3	cervix:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
10	CEBPB	chr14:67250490-67250759	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:67237139-67237466	IMR90	lung:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
12	CEBPB	chr14:67250550-67250614	K562	blood:	n/a	n/a
13	CEBPB	chr14:67237138-67237439	A549	lung:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
14	CEBPB	chr14:67237135-67237372	H1-hESC	embryonic stem cell:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
15	CEBPB	chr14:67237108-67237444	HepG2	liver:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
16	CEBPB	chr14:67237101-67237436	K562	blood:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
17	CEBPB	chr14:67258805-67259057	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:67250483-67250759	A549	lung:	n/a	n/a
19	CTCF	chr14:67225000-67225150	SAEC	small airway:	n/a	n/a
20	CTCF	chr14:67249700-67249850	HMF	breast:	n/a	n/a
21	CTCF	chr14:67225220-67225370	GM12872	blood:	n/a	n/a
22	CTCF	chr14:67225075-67225187	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr14:67249680-67249830	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr14:67224992-67225265	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:67249720-67249870	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr14:67225060-67225210	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr14:67225000-67225150	HCFaa	heart:	n/a	n/a
28	CTCF	chr14:67249700-67249850	BE2_C	brain:	n/a	n/a
29	CTCF	chr14:67225010-67225181	HepG2	liver:	n/a	n/a
30	CTCF	chr14:67249570-67249935	HepG2	liver:	n/a	n/a
31	CTCF	chr14:67224925-67225338	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:67225017-67225228	MCF-7	breast:	n/a	n/a
33	CTCF	chr14:67225080-67225230	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr14:67225040-67225190	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr14:67249600-67249750	HCT-116	colon:	n/a	n/a
36	CTCF	chr14:67225080-67225230	HCM	heart:	n/a	n/a
37	CTCF	chr14:67225080-67225230	HepG2	liver:	n/a	n/a
38	CTCF	chr14:67225014-67225258	K562	blood:	n/a	n/a
39	CTCF	chr14:67225046-67225114	GM20000	blood:	n/a	n/a
40	CTCF	chr14:67249720-67249870	A549	lung:	n/a	n/a
41	CTCF	chr14:67259096-67259130	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr14:67225080-67225230	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr14:67225078-67225079	Medullo	brain:	n/a	n/a
44	CTCF	chr14:67225140-67225290	HVMF	connective:	n/a	n/a
45	CTCF	chr14:67225000-67225150	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr14:67225040-67225190	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr14:67225000-67225150	RPTEC	kidney:	n/a	n/a
48	CTCF	chr14:67268780-67268930	HepG2	liver:	n/a	n/a
49	CTCF	chr14:67249700-67249850	HepG2	liver:	n/a	n/a
50	CTCF	chr14:67225120-67225270	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67249480..67250181-chr17:59494053..59494794,2	MCF-7	breast:
2	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:
3	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:
4	chr14:67247462..67249948-chr14:67251250..67254048,2	MCF-7	breast:
5	chr14:67247462..67249948-chr14:67251250..67254048,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71D-3	chr14:67227250-67227736	NONHSAT037427

Variant related genes	Relation type
ENSG00000258796	TF binding region

Extended variants
information (count: 1960 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17780526	chr14:67217091-67217092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560093166	chr14:67217122-67217123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528742558	chr14:67217216-67217217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80024075	chr14:67217223-67217224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11624115	chr14:67217242-67217243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566374534	chr14:67217274-67217275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530938958	chr14:67217282-67217283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114984875	chr14:67217368-67217369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148214762	chr14:67217380-67217381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527367013	chr14:67217383-67217384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552029967	chr14:67217423-67217424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546547443	chr14:67217467-67217468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192945832	chr14:67217497-67217498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184641786	chr14:67217517-67217518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35517573	chr14:67217663-67217664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535713313	chr14:67217742-67217743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555300372	chr14:67217753-67217754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575379376	chr14:67217781-67217782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537585250	chr14:67217791-67217792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188298281	chr14:67217834-67217835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370892079	chr14:67217853-67217854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191266923	chr14:67217855-67217856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540243856	chr14:67217857-67217858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374631571	chr14:67217875-67217876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560158848	chr14:67217883-67217884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112957154	chr14:67217938-67217939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542490082	chr14:67217969-67217970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185073032	chr14:67218064-67218065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373513741	chr14:67218076-67218077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531128358	chr14:67218152-67218153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189454383	chr14:67218163-67218164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564246360	chr14:67218252-67218253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115588492	chr14:67218314-67218315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35362873	chr14:67218323-67218324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146185393	chr14:67218366-67218367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566836734	chr14:67218373-67218374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529206686	chr14:67218469-67218470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556403858	chr14:67218480-67218481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181830470	chr14:67218484-67218485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538048922	chr14:67218490-67218491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57791782	chr14:67218512-67218513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs79337116	chr14:67218559-67218560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533847534	chr14:67218623-67218624	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535411746	chr14:67218629-67218630	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553834109	chr14:67218658-67218659	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139044204	chr14:67218660-67218661	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs542200786	chr14:67218702-67218703	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186898802	chr14:67218738-67218739	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117145299	chr14:67218743-67218744	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544415260	chr14:67218766-67218767	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67208200-67219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67212200-67218600	Weak transcription	GM12878-XiMat	blood
3	chr14:67214000-67224600	Weak transcription	Liver	Liver
4	chr14:67215400-67217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:67216400-67223200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:67217000-67217600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:67217200-67218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:67217800-67224600	Weak transcription	Pancreas	Pancrea
9	chr14:67218600-67218800	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:67218800-67219000	Enhancers	GM12878-XiMat	blood
11	chr14:67218800-67219400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:67219000-67219200	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:67219200-67219600	Enhancers	GM12878-XiMat	blood
14	chr14:67223200-67223400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr14:67224400-67225600	Enhancers	HepG2	liver
16	chr14:67224600-67225400	Enhancers	Liver	Liver
17	chr14:67224600-67225400	Enhancers	Duodenum Mucosa	Duodenum
18	chr14:67224600-67225400	Enhancers	Pancreas	Pancrea
19	chr14:67225200-67226400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:67225200-67226600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:67225400-67256400	Weak transcription	Pancreas	Pancrea
22	chr14:67232200-67232400	Enhancers	Psoas Muscle	Psoas
23	chr14:67232400-67244400	Weak transcription	Psoas Muscle	Psoas
24	chr14:67237600-67238400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:67237600-67258800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:67238000-67238200	Enhancers	Liver	Liver
27	chr14:67238200-67256400	Weak transcription	Liver	Liver
28	chr14:67239600-67240000	Enhancers	HUVEC	blood vessel
29	chr14:67239800-67240000	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr14:67240000-67254800	Weak transcription	Fetal Intestine Small	intestine
31	chr14:67242600-67256200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:67242800-67245600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:67244200-67249600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:67247400-67249800	Weak transcription	Left Ventricle	heart
35	chr14:67248400-67259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:67248800-67251400	Weak transcription	Fetal Lung	lung
37	chr14:67248800-67251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:67249000-67250200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:67249600-67250200	Enhancers	HepG2	liver
40	chr14:67249600-67250600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:67249800-67250400	Strong transcription	Left Ventricle	heart
42	chr14:67250200-67250400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr14:67250400-67261000	Weak transcription	Left Ventricle	heart
44	chr14:67250600-67250800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:67250800-67266400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:67254800-67255600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr14:67255600-67280000	Weak transcription	Gastric	stomach
48	chr14:67256200-67256600	ZNF genes & repeats	Ovary	ovary
49	chr14:67256400-67256600	ZNF genes & repeats	Liver	Liver
50	chr14:67256400-67256600	ZNF genes & repeats	Pancreas	Pancrea

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