Variant report

Variant	nsv902164
Chromosome Location	chr14:85443532-85528116
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	BHLHE40	chr14:85504871-85505190	GM12878	blood:	n/a	n/a
2	BRCA1	chr14:85468850-85468851	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:85520744-85521013	HepG2	liver:	n/a	chr14:85520874-85520885
4	CEBPB	chr14:85520754-85521010	IMR90	lung:	n/a	chr14:85520874-85520885
5	CEBPB	chr14:85457461-85457820	IMR90	lung:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
6	CEBPB	chr14:85457454-85457788	Hela-S3	cervix:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
7	CEBPB	chr14:85457325-85457796	HepG2	liver:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457349-85457366 chr14:85457637-85457650
8	CEBPB	chr14:85457510-85457794	A549	lung:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
9	CEBPB	chr14:85476561-85476863	Hela-S3	cervix:	n/a	chr14:85476660-85476671 chr14:85476623-85476636
10	CEBPB	chr14:85520728-85520988	A549	lung:	n/a	chr14:85520874-85520885
11	CEBPB	chr14:85457498-85457685	H1-hESC	embryonic stem cell:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
12	CEBPB	chr14:85506788-85506891	HepG2	liver:	n/a	n/a
13	CTCF	chr14:85448972-85449021	Fibrobl	skin:	n/a	n/a
14	CTCF	chr14:85449100-85449250	RPTEC	kidney:	n/a	n/a
15	CTCF	chr14:85492460-85492610	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr14:85445117-85445186	Lung_OC	lung:	n/a	n/a
17	CTCF	chr14:85448880-85449030	RPTEC	kidney:	n/a	n/a
18	CTCF	chr14:85474820-85474886	LNCaP	prostate:	n/a	n/a
19	CTCF	chr14:85448942-85448986	LNCaP	prostate:	n/a	n/a
20	CTCF	chr14:85448820-85448970	HFF	foreskin:	n/a	n/a
21	CTCF	chr14:85448880-85449030	AG04449	skin:	n/a	n/a
22	CTCF	chr14:85492367-85492691	GM12878	blood:	n/a	n/a
23	CTCF	chr14:85448991-85449020	ProgFib	skin:	n/a	n/a
24	CTCF	chr14:85492480-85492630	HMEC	breast:	n/a	n/a
25	CTCF	chr14:85448940-85449090	HRE	kidney:	n/a	n/a
26	CTCF	chr14:85448980-85449130	HVMF	connective:	n/a	n/a
27	CTCF	chr14:85448840-85448990	AG09319	gingival:	n/a	n/a
28	CTCF	chr14:85448840-85448990	HRE	kidney:	n/a	n/a
29	CTCF	chr14:85492500-85492650	HMEC	breast:	n/a	n/a
30	CTCF	chr14:85453960-85454110	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr14:85448900-85449050	AG09309	skin:	n/a	n/a
32	CTCF	chr14:85476347-85476403	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F4	chr14:85524630-85524939	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr14:85525706-85525747	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr14:85511413-85511463	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr14:85526586-85526797	MCF10A-Er-Src	breast:	n/a	n/a
37	EBF1	chr14:85516772-85516923	GM12878	blood:	n/a	n/a
38	EBF1	chr14:85505087-85505182	GM12878	blood:	n/a	n/a
39	EP300	chr14:85516731-85516829	GM12878	blood:	n/a	n/a
40	FOS	chr14:85524486-85524830	HUVEC	blood vessel:	n/a	chr14:85524671-85524682 chr14:85524670-85524681 chr14:85524672-85524679 chr14:85524693-85524705 chr14:85524673-85524684 chr14:85524672-85524681
41	FOS	chr14:85526517-85526819	MCF10A-Er-Src	breast:	n/a	chr14:85526692-85526702 chr14:85526693-85526701
42	FOS	chr14:85524488-85524852	MCF10A-Er-Src	breast:	n/a	chr14:85524671-85524682 chr14:85524670-85524681 chr14:85524672-85524679 chr14:85524693-85524705 chr14:85524673-85524684 chr14:85524672-85524681
43	FOS	chr14:85524488-85524859	MCF10A-Er-Src	breast:	n/a	chr14:85524671-85524682 chr14:85524670-85524681 chr14:85524672-85524679 chr14:85524693-85524705 chr14:85524673-85524684 chr14:85524672-85524681
44	FOS	chr14:85491382-85491605	MCF10A-Er-Src	breast:	n/a	chr14:85491570-85491578
45	FOS	chr14:85476687-85476870	MCF10A-Er-Src	breast:	n/a	chr14:85476757-85476765 chr14:85476757-85476764
46	FOS	chr14:85510778-85510953	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr14:85510775-85510901	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:85476678-85476781	MCF10A-Er-Src	breast:	n/a	chr14:85476757-85476765 chr14:85476757-85476764
49	FOS	chr14:85526463-85526867	MCF10A-Er-Src	breast:	n/a	chr14:85526692-85526702 chr14:85526693-85526701
50	FOS	chr14:85510738-85511007	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:
2	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:
3	chr14:85504367..85505311-chr9:111430924..111431510,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALC-15	chr14:85464622-85465640	NONHSAT038108

Variant related genes	Relation type
ENSG00000271712	TF binding region

Extended variants
information (count: 1401 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1401 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7147908	chr14:85443532-85443533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11849378	chr14:85443592-85443593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546539945	chr14:85454455-85454456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1756575	chr14:85454503-85454504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528777513	chr14:85454517-85454518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376820392	chr14:85454582-85454583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568635278	chr14:85454628-85454629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573372305	chr14:85454629-85454630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373519752	chr14:85454648-85454649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188971459	chr14:85454670-85454671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568535134	chr14:85454674-85454675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181659986	chr14:85454704-85454705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1958800	chr14:85454710-85454711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566470263	chr14:85454725-85454726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184673060	chr14:85454780-85454781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555278646	chr14:85454809-85454810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150075489	chr14:85454823-85454824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578026102	chr14:85454824-85454825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138387049	chr14:85454845-85454846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148998822	chr14:85454855-85454856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545176032	chr14:85454914-85454915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78610236	chr14:85454921-85454922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575785089	chr14:85454950-85454951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546251657	chr14:85454965-85454966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76538810	chr14:85454974-85454975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528840994	chr14:85454990-85454991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143831882	chr14:85454996-85454997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560218560	chr14:85456812-85456813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143111109	chr14:85456827-85456828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370153617	chr14:85456829-85456830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542646266	chr14:85456849-85456850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560717455	chr14:85456867-85456868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114813481	chr14:85456937-85456938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1958799	chr14:85456951-85456952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571483286	chr14:85457019-85457020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182326308	chr14:85457040-85457041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113616911	chr14:85457044-85457045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143155168	chr14:85457048-85457049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376332525	chr14:85457049-85457050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57230411	chr14:85457050-85457051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71117774	chr14:85457083-85457084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534032473	chr14:85457085-85457086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139261564	chr14:85457142-85457143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74068161	chr14:85457190-85457191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28452509	chr14:85457407-85457408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573963126	chr14:85457472-85457473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527796680	chr14:85457549-85457550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117575022	chr14:85457609-85457610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188767147	chr14:85457624-85457625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144637702	chr14:85457647-85457648	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85442000-85443600	Enhancers	HMEC	breast
2	chr14:85454400-85455000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:85456800-85457200	Enhancers	Fetal Brain Male	brain
4	chr14:85457400-85457800	Enhancers	Fetal Brain Female	brain
5	chr14:85457600-85457800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:85464800-85465200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:85465000-85465400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:85472000-85472200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:85472200-85473000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:85473000-85473400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:85475600-85476200	Enhancers	Adipose Nuclei	Adipose
12	chr14:85482800-85483200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:85483000-85483400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:85483200-85494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:85491200-85491600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:85491200-85491600	Enhancers	Hela-S3	cervix
17	chr14:85493800-85496000	Enhancers	Fetal Brain Female	brain
18	chr14:85494000-85494600	Enhancers	Brain Germinal Matrix	brain
19	chr14:85494200-85494800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:85503400-85504600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:85504200-85507800	Enhancers	Brain Germinal Matrix	brain
22	chr14:85504200-85508200	Enhancers	Fetal Brain Male	brain
23	chr14:85505200-85505400	Enhancers	Fetal Stomach	stomach
24	chr14:85505200-85506800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:85505200-85507800	Enhancers	Fetal Brain Female	brain
26	chr14:85505400-85506400	Weak transcription	Fetal Stomach	stomach
27	chr14:85505600-85506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:85505600-85507000	Enhancers	Fetal Lung	lung
29	chr14:85506400-85506600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:85506400-85507000	Enhancers	Fetal Muscle Leg	muscle
31	chr14:85506400-85507000	Enhancers	Fetal Stomach	stomach
32	chr14:85506400-85508200	Enhancers	Ovary	ovary
33	chr14:85506600-85506800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:85506600-85506800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:85506600-85507000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:85507000-85507200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:85507000-85509200	Weak transcription	Fetal Stomach	stomach
38	chr14:85508000-85508200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:85508200-85509800	Weak transcription	Fetal Brain Male	brain
40	chr14:85508800-85509000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:85509200-85509400	Enhancers	Fetal Stomach	stomach
42	chr14:85509800-85510000	Enhancers	Fetal Brain Male	brain
43	chr14:85510000-85510600	Weak transcription	Fetal Brain Male	brain
44	chr14:85510600-85510800	Enhancers	Fetal Brain Male	brain
45	chr14:85516200-85517200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:85520200-85520600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:85522400-85523600	Enhancers	Fetal Stomach	stomach
48	chr14:85522400-85525400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:85522600-85524000	Enhancers	Fetal Lung	lung
50	chr14:85523200-85524400	Enhancers	Fetal Brain Male	brain

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