Variant report

Variant	nsv1038122
Chromosome Location	chr14:67487040-67528205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67511249-67511316	HepG2	liver:	n/a	n/a
2	ATF1	chr14:67511991-67512190	K562	blood:	n/a	n/a
3	ATF1	chr14:67511217-67511586	K562	blood:	n/a	n/a
4	BACH1	chr14:67498772-67499037	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr14:67511409-67511436	GM12878	blood:	n/a	n/a
6	BRCA1	chr14:67511238-67511615	GM12878	blood:	n/a	chr14:67511245-67511252
7	BRCA1	chr14:67511723-67511744	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr14:67511829-67512028	GM12878	blood:	n/a	n/a
9	CEBPB	chr14:67519362-67519448	HepG2	liver:	n/a	chr14:67519397-67519408
10	CEBPB	chr14:67498459-67498897	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr14:67519432-67519466	K562	blood:	n/a	n/a
12	CHD1	chr14:67511245-67511446	GM12878	blood:	n/a	n/a
13	CHD2	chr14:67511409-67511609	GM12878	blood:	n/a	n/a
14	CTCF	chr14:67497740-67497890	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr14:67511280-67511430	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr14:67511410-67511495	Gliobla	brain:	n/a	n/a
17	CTCF	chr14:67511380-67511530	BJ	skin:	n/a	n/a
18	CTCF	chr14:67511300-67511450	GM12868	blood:	n/a	n/a
19	CTCF	chr14:67511330-67511518	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:67499030-67499087	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:67511280-67511430	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr14:67511880-67512030	WI-38	lung:	n/a	chr14:67511983-67511996
23	CTCF	chr14:67511320-67511470	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:67523120-67523171	GM13977	blood:	n/a	n/a
25	CTCF	chr14:67511358-67511473	GM10248	blood:	n/a	n/a
26	CTCF	chr14:67511300-67511450	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr14:67511940-67512090	AoAF	blood vessel:	n/a	chr14:67511983-67511996
28	CTCF	chr14:67511360-67511510	RPTEC	kidney:	n/a	n/a
29	CTCF	chr14:67511860-67512010	GM12878	blood:	n/a	chr14:67511983-67511996
30	CTCF	chr14:67511348-67511431	Fibrobl	skin:	n/a	n/a
31	CTCF	chr14:67511380-67511530	HAc	cerebellar:	n/a	n/a
32	CTCF	chr14:67511380-67511530	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr14:67511394-67511433	GM13976	blood:	n/a	n/a
34	CTCF	chr14:67511380-67511530	GM12868	blood:	n/a	n/a
35	CTCF	chr14:67511920-67512070	HAc	cerebellar:	n/a	chr14:67511983-67511996
36	CTCF	chr14:67511440-67511590	AG04450	lung:	n/a	n/a
37	CTCF	chr14:67511880-67512030	GM12868	blood:	n/a	chr14:67511983-67511996
38	CTCF	chr14:67511880-67512030	K562	blood:	n/a	chr14:67511983-67511996
39	CTCF	chr14:67511400-67511550	GM12872	blood:	n/a	n/a
40	CTCF	chr14:67511411-67511430	ProgFib	skin:	n/a	n/a
41	CTCF	chr14:67511350-67511434	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr14:67497740-67497890	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr14:67511900-67512050	GM12865	blood:	n/a	chr14:67511983-67511996
44	CTCF	chr14:67511364-67511400	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:67511360-67511510	GM12871	blood:	n/a	n/a
46	CTCF	chr14:67511860-67512010	AoAF	blood vessel:	n/a	chr14:67511983-67511996
47	CTCF	chr14:67511360-67511510	GM12867	blood:	n/a	n/a
48	CTCF	chr14:67511280-67511430	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr14:67511360-67511510	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr14:67511280-67511430	HPF	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:67510207..67512789-chr14:67538433..67540909,2	K562	blood:
2	chr14:67479779..67482733-chr14:67492427..67494033,2	MCF-7	breast:
3	chr14:67477930..67479660-chr14:67487049..67490010,2	K562	blood:
4	chr14:67486765..67488657-chr14:67488979..67491560,2	K562	blood:
5	chr14:67485290..67488265-chr14:67490060..67491590,2	K562	blood:
6	chr14:67485290..67488265-chr14:67490060..67491590,2	K562	blood:
7	chr14:67486765..67488657-chr14:67488979..67491560,2	K562	blood:

No data

Variant related genes	Relation type
GPHN	TF binding region

Extended variants
information (count: 1525 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78963793	chr14:67487074-67487075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531906065	chr14:67487090-67487091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542696836	chr14:67487126-67487127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143757907	chr14:67487153-67487154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568700834	chr14:67487208-67487209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17103833	chr14:67487251-67487252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547809008	chr14:67487252-67487253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189915972	chr14:67487294-67487295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533606626	chr14:67487413-67487414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548513107	chr14:67487444-67487445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558238180	chr14:67487574-67487575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570577742	chr14:67487580-67487581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1950283	chr14:67487588-67487589	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556417009	chr14:67487628-67487629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1950282	chr14:67487629-67487630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs542223771	chr14:67487705-67487706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554182953	chr14:67487793-67487794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377627023	chr14:67487813-67487814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371259712	chr14:67487947-67487948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114055558	chr14:67487951-67487952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564426992	chr14:67488003-67488004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531930924	chr14:67488006-67488007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543688263	chr14:67488069-67488070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562384882	chr14:67488081-67488082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529531762	chr14:67488108-67488109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182879187	chr14:67488127-67488128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115006557	chr14:67488157-67488158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535107988	chr14:67488162-67488163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141880091	chr14:67488173-67488174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570491948	chr14:67488184-67488185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7157126	chr14:67488230-67488231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs539360060	chr14:67488237-67488238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370031431	chr14:67488238-67488239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556115352	chr14:67488340-67488341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373830320	chr14:67488350-67488351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568268945	chr14:67488361-67488362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368155149	chr14:67488415-67488416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187560005	chr14:67488497-67488498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193299296	chr14:67488523-67488524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572423687	chr14:67488538-67488539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546267948	chr14:67488558-67488559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558216692	chr14:67488575-67488576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529942105	chr14:67488577-67488578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563249413	chr14:67488585-67488586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147254122	chr14:67488598-67488599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568500821	chr14:67488608-67488609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543916966	chr14:67488660-67488661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530653750	chr14:67488684-67488685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549062249	chr14:67488743-67488744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117429315	chr14:67488773-67488774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
2	chr14:67418000-67491400	Weak transcription	Ovary	ovary
3	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
4	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:67438000-67491400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:67447200-67490600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:67449200-67491000	Weak transcription	Adipose Nuclei	Adipose
8	chr14:67449800-67491400	Weak transcription	Right Ventricle	heart
9	chr14:67463800-67492800	Weak transcription	Brain Substantia Nigra	brain
10	chr14:67465600-67491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:67478200-67491200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:67483800-67491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:67485200-67511200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:67485400-67488200	Weak transcription	Esophagus	oesophagus
15	chr14:67485400-67498800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:67485800-67491200	Weak transcription	Gastric	stomach
17	chr14:67486400-67487200	Strong transcription	Liver	Liver
18	chr14:67486800-67487600	Strong transcription	GM12878-XiMat	blood
19	chr14:67486800-67490800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:67486800-67498800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:67486800-67499000	Weak transcription	Pancreas	Pancrea
22	chr14:67487000-67491000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:67487200-67490200	Weak transcription	Liver	Liver
24	chr14:67487600-67490200	Weak transcription	GM12878-XiMat	blood
25	chr14:67488400-67511200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:67488800-67511200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:67489200-67490600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:67489200-67491200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:67489600-67491200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:67489600-67498800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:67489800-67498800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:67490200-67491600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:67490200-67491800	ZNF genes & repeats	GM12878-XiMat	blood
34	chr14:67490200-67494600	Strong transcription	Liver	Liver
35	chr14:67490600-67491200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:67490600-67491600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:67490800-67491200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:67490800-67491400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:67490800-67491400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:67491000-67491600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:67491000-67491600	Strong transcription	Adipose Nuclei	Adipose
42	chr14:67491000-67492000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr14:67491000-67492600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:67491000-67501200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:67491200-67491400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr14:67491200-67491400	ZNF genes & repeats	Gastric	stomach
47	chr14:67491200-67491600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr14:67491200-67491600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr14:67491200-67491600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:67491200-67491600	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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