Variant report

Variant	esv1795403
Chromosome Location	chr14:45622265-45650813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr14:45625249-45625630	GM12878	blood:	n/a	n/a
2	BATF	chr14:45625307-45625620	GM12878	blood:	n/a	n/a
3	CEBPB	chr14:45646239-45646700	Hela-S3	cervix:	n/a	chr14:45646554-45646567
4	CEBPB	chr14:45646381-45646581	A549	lung:	n/a	chr14:45646554-45646567
5	CEBPB	chr14:45645645-45645827	A549	lung:	n/a	n/a
6	CEBPB	chr14:45638300-45638606	A549	lung:	n/a	n/a
7	CEBPB	chr14:45646246-45646704	IMR90	lung:	n/a	chr14:45646554-45646567
8	CEBPB	chr14:45638311-45638646	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:45626148-45626388	HepG2	liver:	n/a	chr14:45626276-45626287
10	CTCF	chr14:45625360-45625510	HPF	lung:	n/a	n/a
11	CTCF	chr14:45625394-45625484	ProgFib	skin:	n/a	n/a
12	CTCF	chr14:45625360-45625510	A549	lung:	n/a	n/a
13	CTCF	chr14:45625440-45625590	HAc	cerebellar:	n/a	n/a
14	CTCF	chr14:45625420-45625570	HCM	heart:	n/a	n/a
15	CTCF	chr14:45625320-45625470	HCFaa	heart:	n/a	n/a
16	CTCF	chr14:45625380-45625530	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr14:45625400-45625550	HMF	breast:	n/a	n/a
18	CTCF	chr14:45625380-45625530	HMEC	breast:	n/a	n/a
19	CTCF	chr14:45625361-45625465	GM13977	blood:	n/a	n/a
20	CTCF	chr14:45625380-45625530	HVMF	connective:	n/a	n/a
21	CTCF	chr14:45627299-45627362	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:45625984-45626069	Fibrobl	skin:	n/a	n/a
23	CTCF	chr14:45625232-45625613	GM12878	blood:	n/a	n/a
24	CTCF	chr14:45625400-45625550	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:45625420-45625570	BJ	skin:	n/a	n/a
26	CTCF	chr14:45625380-45625530	AG04449	skin:	n/a	n/a
27	CTCF	chr14:45625335-45625527	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:45625396-45625458	GM19239	blood:	n/a	n/a
29	CTCF	chr14:45625373-45625517	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:45625360-45625510	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr14:45625400-45625550	NHEK	skin:	n/a	n/a
32	CTCF	chr14:45625380-45625530	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr14:45625300-45625450	GM12865	blood:	n/a	n/a
34	CTCF	chr14:45625280-45625430	GM12873	blood:	n/a	n/a
35	CTCF	chr14:45625380-45625530	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr14:45625320-45625470	AG04449	skin:	n/a	n/a
37	CTCF	chr14:45625320-45625470	AG09309	skin:	n/a	n/a
38	CTCF	chr14:45625400-45625441	Medullo	brain:	n/a	n/a
39	CTCF	chr14:45625369-45625511	NHEK	skin:	n/a	n/a
40	CTCF	chr14:45625360-45625510	AG10803	skin:	n/a	n/a
41	CTCF	chr14:45625380-45625530	GM12874	blood:	n/a	n/a
42	CTCF	chr14:45625360-45625510	RPTEC	kidney:	n/a	n/a
43	CTCF	chr14:45625312-45625549	IMR90	lung:	n/a	n/a
44	CTCF	chr14:45625260-45625410	HVMF	connective:	n/a	n/a
45	CTCF	chr14:45625300-45625450	GM06990	blood:	n/a	n/a
46	CTCF	chr14:45625480-45625630	HAc	cerebellar:	n/a	n/a
47	CTCF	chr14:45625400-45625550	HMEC	breast:	n/a	n/a
48	CTCF	chr14:45625380-45625530	AG04450	lung:	n/a	n/a
49	CTCF	chr14:45625360-45625510	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr14:45625320-45625470	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45633384..45635477-chr14:45696963..45699903,2	K562	blood:
2	chr14:45644589..45646805-chr14:45647065..45649190,2	MCF-7	breast:
3	chr14:45602273..45605265-chr14:45642579..45644553,2	K562	blood:
4	chr14:45646929..45649462-chr14:45654558..45656763,2	MCF-7	breast:
5	chr14:45625132..45625884-chr14:45737446..45738063,2	MCF-7	breast:
6	chr14:45642220..45642925-chr3:15744255..15744957,2	MCF-7	breast:

No data

Variant related genes	Relation type
FANCM	TF binding region
ENSG00000187790	chromatin interactions
ENSG00000100442	chromatin interactions

Extended variants
information (count: 1101 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7149582	chr14:45622265-45622266	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550724627	chr14:45622296-45622297	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569090171	chr14:45622302-45622303	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535989868	chr14:45622390-45622391	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570075066	chr14:45622539-45622540	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs184830644	chr14:45622554-45622555	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs386777038	chr14:45622557-45622558	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7148613	chr14:45622558-45622559	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs558894005	chr14:45622612-45622613	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188845785	chr14:45622627-45622628	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544436013	chr14:45622635-45622636	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs79497476	chr14:45622759-45622760	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556432499	chr14:45622779-45622780	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574554963	chr14:45622783-45622784	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538169478	chr14:45622799-45622800	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs78666636	chr14:45622819-45622820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201494125	chr14:45622831-45622832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561426506	chr14:45622839-45622840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531707294	chr14:45622841-45622842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528488151	chr14:45622902-45622903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147999262	chr14:45622911-45622912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565249898	chr14:45622938-45622939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532698282	chr14:45622941-45622942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550838997	chr14:45622955-45622956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569395494	chr14:45622970-45622971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530304982	chr14:45622975-45622976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373674451	chr14:45623024-45623025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368185388	chr14:45623045-45623046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566514921	chr14:45623054-45623055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533575219	chr14:45623056-45623057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552168542	chr14:45623085-45623086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371849590	chr14:45623090-45623091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374855389	chr14:45623111-45623112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199785703	chr14:45623139-45623140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368978415	chr14:45623152-45623153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376481889	chr14:45623204-45623205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538172189	chr14:45623263-45623264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369985517	chr14:45623278-45623279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373869932	chr14:45623280-45623281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200621018	chr14:45623287-45623288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370944110	chr14:45623294-45623295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201627169	chr14:45623358-45623359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535598993	chr14:45623385-45623386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371607057	chr14:45623407-45623408	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192890750	chr14:45623414-45623415	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs1969713	chr14:45623460-45623461	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150497733	chr14:45623476-45623477	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541414382	chr14:45623493-45623494	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184932864	chr14:45623512-45623513	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372836421	chr14:45623522-45623523	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
2	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:45607000-45660000	Weak transcription	Ovary	ovary
10	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
11	chr14:45607200-45634800	Weak transcription	HSMM	muscle
12	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
13	chr14:45607200-45639000	Weak transcription	Liver	Liver
14	chr14:45607400-45633200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:45607400-45633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:45607400-45633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:45607400-45633600	Weak transcription	Adipose Nuclei	Adipose
18	chr14:45607400-45633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:45607400-45634400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:45607400-45635600	Weak transcription	Fetal Lung	lung
21	chr14:45607400-45636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:45607400-45650200	Weak transcription	NH-A	brain
23	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:45607600-45624600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:45607600-45633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:45607600-45633400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:45608000-45683000	Weak transcription	K562	blood
29	chr14:45608200-45633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:45608200-45635000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:45608200-45635600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:45608200-45636200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:45608200-45639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:45608400-45633600	Weak transcription	HUVEC	blood vessel
35	chr14:45608400-45635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:45608400-45668400	Weak transcription	NHDF-Ad	bronchial
37	chr14:45608800-45633000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:45609800-45623800	Weak transcription	Hela-S3	cervix
39	chr14:45610200-45636800	Weak transcription	NHEK	skin
40	chr14:45610200-45667400	Weak transcription	HMEC	breast
41	chr14:45610400-45633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:45614000-45638000	Weak transcription	Lung	lung
43	chr14:45614200-45632400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:45614200-45633400	Weak transcription	A549	lung
45	chr14:45614400-45629400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:45614400-45633200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:45614400-45637800	Weak transcription	Spleen	Spleen
48	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:45614600-45625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:45614600-45632600	Weak transcription	Primary T cells from cord blood	blood

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