Variant report

Variant	esv1838445
Chromosome Location	chr14:67600169-67634318
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	chr14:67604519-67604819	K562	blood:	n/a	n/a
2	ARID3A	chr14:67604512-67604786	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:67633083-67633392	HepG2	liver:	n/a	n/a
4	ATF1	chr14:67629420-67629620	K562	blood:	n/a	n/a
5	ATF1	chr14:67633109-67633311	K562	blood:	n/a	n/a
6	BACH1	chr14:67633086-67633407	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr14:67633241-67633355	GM12878	blood:	n/a	n/a
8	BRCA1	chr14:67633111-67633355	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:67634127-67634514	ECC-1	luminal epithelium:	n/a	chr14:67634338-67634349
10	CEBPB	chr14:67634217-67634503	H1-hESC	embryonic stem cell:	n/a	chr14:67634338-67634349
11	CEBPB	chr14:67634195-67634517	A549	lung:	n/a	chr14:67634338-67634349
12	CEBPB	chr14:67629122-67629484	HepG2	liver:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
13	CEBPB	chr14:67634153-67634525	IMR90	lung:	n/a	chr14:67634338-67634349
14	CEBPB	chr14:67634176-67634507	HepG2	liver:	n/a	chr14:67634338-67634349
15	CEBPB	chr14:67629120-67629480	IMR90	lung:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
16	CEBPB	chr14:67629012-67629557	A549	lung:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
17	CEBPB	chr14:67634156-67634511	ECC-1	luminal epithelium:	n/a	chr14:67634338-67634349
18	CEBPB	chr14:67629116-67629486	A549	lung:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
19	CEBPB	chr14:67629135-67629446	ECC-1	luminal epithelium:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
20	CEBPB	chr14:67634157-67634903	Hela-S3	cervix:	n/a	chr14:67634338-67634349
21	CEBPB	chr14:67629166-67629429	H1-hESC	embryonic stem cell:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
22	CEBPB	chr14:67610002-67610150	HepG2	liver:	n/a	n/a
23	CEBPB	chr14:67634169-67634500	K562	blood:	n/a	chr14:67634338-67634349
24	CEBPB	chr14:67629195-67629500	MCF-7	breast:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
25	CEBPB	chr14:67629165-67629415	A549	lung:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
26	CEBPB	chr14:67629122-67629477	K562	blood:	n/a	chr14:67629292-67629303 chr14:67629370-67629381
27	CEBPB	chr14:67628910-67629674	Hela-S3	cervix:	n/a	chr14:67628929-67628942 chr14:67629292-67629303 chr14:67629370-67629381
28	CEBPB	chr14:67633079-67633414	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr14:67617981-67618441	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:67604660-67604810	MCF-7	breast:	n/a	chr14:67604671-67604679
31	CTCF	chr14:67618060-67618210	HCT-116	colon:	n/a	n/a
32	CTCF	chr14:67604540-67604690	HRE	kidney:	n/a	chr14:67604671-67604679
33	CTCF	chr14:67604580-67604730	BE2_C	brain:	n/a	chr14:67604671-67604679
34	CTCF	chr14:67604580-67604730	HMF	breast:	n/a	chr14:67604671-67604679
35	CTCF	chr14:67633160-67633310	AG04450	lung:	n/a	chr14:67633252-67633270 chr14:67633254-67633275
36	CTCF	chr14:67628405-67628441	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:67633120-67633371	GM13977	blood:	n/a	chr14:67633252-67633270 chr14:67633254-67633275
38	CTCF	chr14:67604540-67604690	GM12872	blood:	n/a	chr14:67604671-67604679
39	CTCF	chr14:67618100-67618250	SAEC	small airway:	n/a	n/a
40	CTCF	chr14:67604407-67604949	MCF-7	breast:	n/a	chr14:67604671-67604679
41	CTCF	chr14:67632984-67633448	GM12878	blood:	n/a	chr14:67633252-67633270 chr14:67633254-67633275
42	CTCF	chr14:67633200-67633350	AG10803	skin:	n/a	chr14:67633252-67633270 chr14:67633254-67633275
43	CTCF	chr14:67618080-67618230	HRE	kidney:	n/a	n/a
44	CTCF	chr14:67618218-67618245	Medullo	brain:	n/a	n/a
45	CTCF	chr14:67633220-67633370	HCT-116	colon:	n/a	chr14:67633252-67633270 chr14:67633254-67633275
46	CTCF	chr14:67600800-67600950	AG09309	skin:	n/a	n/a
47	CTCF	chr14:67600900-67601050	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr14:67604909-67604976	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr14:67632977-67633388	A549	lung:	n/a	chr14:67633252-67633270 chr14:67633254-67633275
50	CTCF	chr14:67617738-67618441	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67632675..67633593-chr14:67802306..67802904,2	MCF-7	breast:
2	chr14:67622014..67623675-chr14:67628384..67630243,2	MCF-7	breast:
3	chr14:66972819..66974682-chr14:67611883..67614868,2	MCF-7	breast:
4	chr14:67632795..67633728-chr14:68037704..68038462,2	K562	blood:
5	chr14:67626749..67628582-chr14:67628910..67630639,2	MCF-7	breast:
6	chr14:67622286..67626547-chr14:67627743..67631679,4	K562	blood:
7	chr14:67632611..67633531-chr14:67749102..67749903,3	MCF-7	breast:
8	chr14:67601986..67604239-chr14:67605859..67608137,2	K562	blood:
9	chr14:66962164..66962780-chr14:67602828..67603411,2	MCF-7	breast:
10	chr14:67605438..67607246-chr14:67649867..67652399,2	K562	blood:
11	chr14:67626749..67628582-chr14:67628910..67630639,2	MCF-7	breast:
12	chr14:67622286..67626547-chr14:67627743..67631679,4	K562	blood:
13	chr14:67632784..67633742-chr14:67802203..67802833,3	MCF-7	breast:
14	chr14:67601986..67604239-chr14:67605859..67608137,2	K562	blood:
15	chr14:66831468..66833127-chr14:67617476..67620347,2	MCF-7	breast:
16	chr14:67632964..67633724-chr14:67752369..67753140,3	K562	blood:
17	chr14:67632850..67634159-chr14:67752109..67753244,6	MCF-7	breast:
18	chr1:54327806..54328648-chr14:67620411..67621068,2	MCF-7	breast:
19	chr14:67631986..67632614-chr14:67707358..67708232,2	Hela-S3	cervix:
20	chr14:67632272..67633959-chr14:67750952..67752534,2	MCF-7	breast:
21	chr14:67622014..67623675-chr14:67628384..67630243,2	MCF-7	breast:

Variant related genes	Relation type
GPHN	TF binding region
ENSG00000171723	chromatin interactions
ENSG00000054690	chromatin interactions
ENSG00000072415	chromatin interactions

Extended variants
information (count: 1155 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10141952	chr14:67600169-67600170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112508025	chr14:67600199-67600200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538726903	chr14:67600246-67600247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556847636	chr14:67600263-67600264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575409868	chr14:67600298-67600299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548304338	chr14:67600302-67600303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79421291	chr14:67600390-67600391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561263774	chr14:67600430-67600431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527511604	chr14:67600459-67600460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572897962	chr14:67600491-67600492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540271858	chr14:67600513-67600514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145075264	chr14:67600527-67600528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61990922	chr14:67600557-67600558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532441768	chr14:67600559-67600560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551070937	chr14:67600624-67600625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562925898	chr14:67600765-67600766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530347603	chr14:67600785-67600786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548599884	chr14:67600797-67600798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72715387	chr14:67600836-67600837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534508866	chr14:67600839-67600840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546570524	chr14:67600845-67600846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78737217	chr14:67600930-67600931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117579314	chr14:67600950-67600951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117189427	chr14:67600977-67600978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138863895	chr14:67601059-67601060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72715388	chr14:67601110-67601111	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536491927	chr14:67601163-67601164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554433448	chr14:67601165-67601166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113600329	chr14:67601249-67601250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182944270	chr14:67601259-67601260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188086304	chr14:67601354-67601355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373982799	chr14:67601371-67601372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113150214	chr14:67601378-67601379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568425399	chr14:67601457-67601458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544359137	chr14:67601495-67601496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111912225	chr14:67601501-67601502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530225632	chr14:67601551-67601552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542371751	chr14:67601602-67601603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369596257	chr14:67601631-67601632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372375872	chr14:67601659-67601660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375276195	chr14:67601663-67601664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199790567	chr14:67601666-67601667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200578344	chr14:67601667-67601668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573340363	chr14:67601670-67601671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57933607	chr14:67601696-67601697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71421360	chr14:67601703-67601704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535477472	chr14:67601771-67601772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554270163	chr14:67601808-67601809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527959054	chr14:67601818-67601819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10145508	chr14:67601834-67601835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67554600-67604200	Weak transcription	HMEC	breast
2	chr14:67568000-67618400	Weak transcription	Gastric	stomach
3	chr14:67573000-67615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:67573200-67619800	Weak transcription	HepG2	liver
5	chr14:67573400-67615000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:67574600-67600600	Weak transcription	GM12878-XiMat	blood
7	chr14:67580000-67622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:67584200-67637400	Weak transcription	Pancreas	Pancrea
9	chr14:67586600-67607800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:67588000-67639400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:67588400-67639200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:67588600-67638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:67590200-67600400	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:67590200-67600600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:67590200-67610000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:67590200-67610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:67590200-67613800	Weak transcription	Psoas Muscle	Psoas
18	chr14:67590200-67617800	Weak transcription	Brain Angular Gyrus	brain
19	chr14:67590200-67618000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:67590200-67637400	Weak transcription	Aorta	Aorta
21	chr14:67590200-67638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:67590400-67610000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:67590400-67614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:67590400-67618000	Weak transcription	Brain Substantia Nigra	brain
25	chr14:67590800-67601200	Weak transcription	Fetal Brain Male	brain
26	chr14:67590800-67616400	Weak transcription	Dnd41	blood
27	chr14:67590800-67621400	Weak transcription	Right Ventricle	heart
28	chr14:67590800-67637600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:67591200-67601800	Weak transcription	Brain Anterior Caudate	brain
30	chr14:67591200-67618400	Weak transcription	Fetal Stomach	stomach
31	chr14:67591400-67612200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:67591400-67614200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:67591400-67640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:67592200-67618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:67592400-67609200	Weak transcription	Left Ventricle	heart
36	chr14:67592400-67612800	Weak transcription	Adipose Nuclei	Adipose
37	chr14:67597000-67605400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:67597400-67609600	Weak transcription	Ovary	ovary
39	chr14:67597400-67616200	Weak transcription	Fetal Brain Female	brain
40	chr14:67597600-67600400	Weak transcription	Fetal Kidney	kidney
41	chr14:67598000-67601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:67598000-67609800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:67598200-67609400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:67598200-67612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:67598200-67620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:67598800-67607400	Weak transcription	Liver	Liver
47	chr14:67599000-67607800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:67599800-67618000	Weak transcription	HSMM	muscle
49	chr14:67600400-67600800	Enhancers	Fetal Kidney	kidney
50	chr14:67600400-67601200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links