Variant report

Variant	nsv564955
Chromosome Location	chr14:67103579-67234710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:820)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	ARID3A	chr14:67213116-67213393	K562	blood:	n/a	n/a
3	ATF2	chr14:67218740-67219290	GM12878	blood:	n/a	n/a
4	ATF2	chr14:67116096-67116807	GM12878	blood:	n/a	n/a
5	ATF2	chr14:67117239-67117647	GM12878	blood:	n/a	n/a
6	ATF2	chr14:67117111-67117794	GM12878	blood:	n/a	n/a
7	ATF2	chr14:67218758-67219207	GM12878	blood:	n/a	n/a
8	ATF2	chr14:67116077-67116922	GM12878	blood:	n/a	n/a
9	BACH1	chr14:67119428-67119712	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr14:67116255-67116675	GM12878	blood:	n/a	chr14:67116456-67116467
11	BATF	chr14:67117185-67117684	GM12878	blood:	n/a	n/a
12	BATF	chr14:67117290-67117681	GM12878	blood:	n/a	n/a
13	BATF	chr14:67218719-67219305	GM12878	blood:	n/a	n/a
14	BATF	chr14:67218778-67219263	GM12878	blood:	n/a	n/a
15	BATF	chr14:67116154-67116829	GM12878	blood:	n/a	chr14:67116456-67116467
16	BCL11A	chr14:67117318-67117695	GM12878	blood:	n/a	n/a
17	BCL11A	chr14:67219021-67219287	GM12878	blood:	n/a	n/a
18	BCL11A	chr14:67117264-67117683	GM12878	blood:	n/a	n/a
19	BCL11A	chr14:67116200-67116728	GM12878	blood:	n/a	n/a
20	BCL11A	chr14:67116318-67116671	GM12878	blood:	n/a	n/a
21	BCL11A	chr14:67218813-67219271	GM12878	blood:	n/a	n/a
22	BCLAF1	chr14:67116140-67116764	GM12878	blood:	n/a	n/a
23	BCLAF1	chr14:67117133-67117735	GM12878	blood:	n/a	n/a
24	BCLAF1	chr14:67116159-67116686	GM12878	blood:	n/a	n/a
25	BHLHE40	chr14:67218905-67219220	GM12878	blood:	n/a	n/a
26	BHLHE40	chr14:67117398-67117639	GM12878	blood:	n/a	n/a
27	BHLHE40	chr14:67116253-67116731	GM12878	blood:	n/a	n/a
28	BRCA1	chr14:67202769-67202812	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr14:67198693-67198850	K562	blood:	n/a	n/a
30	CEBPB	chr14:67176141-67176415	IMR90	lung:	n/a	n/a
31	CEBPB	chr14:67116134-67117834	GM12878	blood:	n/a	n/a
32	CEBPB	chr14:67164729-67164837	HepG2	liver:	n/a	chr14:67164778-67164789 chr14:67164779-67164790
33	CEBPB	chr14:67104846-67104890	HepG2	liver:	n/a	chr14:67104862-67104873
34	CEBPB	chr14:67176164-67176408	A549	lung:	n/a	n/a
35	CEBPB	chr14:67176089-67176439	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr14:67175064-67175343	HepG2	liver:	n/a	n/a
37	CEBPB	chr14:67176094-67176421	HCT-116	colon:	n/a	n/a
38	CHD1	chr14:67116520-67117536	GM12878	blood:	n/a	n/a
39	CHD2	chr14:67117029-67117705	GM12878	blood:	n/a	n/a
40	CREB1	chr14:67116284-67116796	GM12878	blood:	n/a	n/a
41	CREB1	chr14:67116240-67117179	GM12878	blood:	n/a	n/a
42	CTCF	chr14:67225140-67225290	HVMF	connective:	n/a	n/a
43	CTCF	chr14:67225017-67225228	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:67213100-67213250	AG04450	lung:	n/a	n/a
45	CTCF	chr14:67213060-67213210	HMEC	breast:	n/a	n/a
46	CTCF	chr14:67173718-67173825	GM10248	blood:	n/a	n/a
47	CTCF	chr14:67129180-67129330	HFF	foreskin:	n/a	n/a
48	CTCF	chr14:67213120-67213270	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr14:67129200-67129350	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr14:67129240-67129390	AG04449	skin:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
2	chr14:66867904..66868628-chr14:67128968..67129850,2	MCF-7	breast:
3	chr14:66868171..66869202-chr14:67212732..67213746,3	MCF-7	breast:
4	chr14:66974629..66976267-chr14:67206447..67208432,2	MCF-7	breast:
5	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
6	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
7	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
8	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
9	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:
10	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
11	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
12	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
13	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
14	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
15	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1D-6	chr14:67184597-67184862	expRegAs_chr14_4324_-
2	lnc-FAM71D-3	chr14:67227250-67227736	NONHSAT037427
3	lnc-ATP6V1D-5	chr14:67187470-67188083	predAs_ge08_ARG2_2

No data

Variant related genes	Relation type
ENSG00000258796	TF binding region
ENSG00000171723	chromatin interactions
ENSG00000258561	chromatin interactions

Extended variants
information (count: 4488 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:4488 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7149265	chr14:67103579-67103580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80243121	chr14:67103587-67103588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188299754	chr14:67103610-67103611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537850797	chr14:67103642-67103643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556476259	chr14:67103672-67103673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376947936	chr14:67103673-67103674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544107660	chr14:67103720-67103721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72726433	chr14:67103721-67103722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34227682	chr14:67103774-67103775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76107460	chr14:67103864-67103865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146671575	chr14:67103906-67103907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112365914	chr14:67103937-67103938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140214530	chr14:67103961-67103962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72726434	chr14:67103967-67103968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568874395	chr14:67103974-67103975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543570922	chr14:67103995-67103996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143908346	chr14:67104013-67104014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193058044	chr14:67104014-67104015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201429948	chr14:67104074-67104075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36072039	chr14:67104149-67104150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146864042	chr14:67104176-67104177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540058126	chr14:67104181-67104182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554330029	chr14:67104233-67104234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184843813	chr14:67104242-67104243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563587394	chr14:67104251-67104252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148993270	chr14:67104255-67104256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376652822	chr14:67104277-67104278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143757911	chr14:67104300-67104301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115376976	chr14:67104305-67104306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9806103	chr14:67104311-67104312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs564614903	chr14:67104391-67104392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576717859	chr14:67104394-67104395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188484797	chr14:67104402-67104403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181059215	chr14:67104417-67104418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564434417	chr14:67104466-67104467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72726438	chr14:67104481-67104482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114246895	chr14:67104558-67104559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560112439	chr14:67104559-67104560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117089835	chr14:67104572-67104573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549109453	chr14:67104587-67104588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562566908	chr14:67104666-67104667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549903899	chr14:67104724-67104725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529654808	chr14:67104826-67104827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547850575	chr14:67104864-67104865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8017881	chr14:67104939-67104940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs551379883	chr14:67104947-67104948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571187226	chr14:67104949-67104950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539762853	chr14:67105017-67105018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527476278	chr14:67105051-67105052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547222958	chr14:67105057-67105058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67087000-67106800	Weak transcription	Gastric	stomach
2	chr14:67087200-67110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:67095400-67116600	Weak transcription	Brain Substantia Nigra	brain
4	chr14:67095800-67112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:67101400-67105000	Weak transcription	Right Atrium	heart
6	chr14:67101400-67119600	Weak transcription	Aorta	Aorta
7	chr14:67101800-67109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:67102000-67107800	Weak transcription	Psoas Muscle	Psoas
9	chr14:67102000-67110200	Weak transcription	Liver	Liver
10	chr14:67102000-67119400	Weak transcription	Pancreas	Pancrea
11	chr14:67102200-67105000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:67102600-67105000	Weak transcription	HUVEC	blood vessel
13	chr14:67105000-67105800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:67105000-67105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:67105000-67106200	Enhancers	HUVEC	blood vessel
16	chr14:67105200-67105800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:67105200-67105800	Enhancers	HMEC	breast
18	chr14:67105200-67105800	Enhancers	NHEK	skin
19	chr14:67105400-67105800	Enhancers	A549	lung
20	chr14:67105600-67105800	Enhancers	HSMM	muscle
21	chr14:67105600-67106000	Enhancers	Osteobl	bone
22	chr14:67105800-67109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:67105800-67109800	Weak transcription	HMEC	breast
24	chr14:67105800-67109800	Weak transcription	NHEK	skin
25	chr14:67105800-67110200	Weak transcription	HSMM	muscle
26	chr14:67106000-67112000	Weak transcription	Osteobl	bone
27	chr14:67106200-67109800	Weak transcription	HUVEC	blood vessel
28	chr14:67106800-67107200	Enhancers	Gastric	stomach
29	chr14:67107200-67109000	Weak transcription	Gastric	stomach
30	chr14:67107600-67109200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:67107800-67109200	Enhancers	Psoas Muscle	Psoas
32	chr14:67108000-67110800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:67108800-67109000	Weak transcription	Fetal Heart	heart
34	chr14:67108800-67109200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr14:67109000-67109200	Enhancers	Gastric	stomach
36	chr14:67109000-67110800	Enhancers	Fetal Heart	heart
37	chr14:67109200-67109400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:67109200-67111000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:67109200-67118400	Weak transcription	Psoas Muscle	Psoas
40	chr14:67109400-67109800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:67109800-67110600	Enhancers	HMEC	breast
42	chr14:67109800-67110800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:67109800-67111000	Enhancers	NHEK	skin
44	chr14:67109800-67111200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:67109800-67113600	Enhancers	HUVEC	blood vessel
46	chr14:67110000-67110600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:67110200-67110800	Enhancers	Stomach Mucosa	stomach
48	chr14:67110200-67110800	Enhancers	HSMM	muscle
49	chr14:67110200-67111400	Enhancers	Liver	Liver
50	chr14:67110600-67111400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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