Variant report

Variant	nsv564763
Chromosome Location	chr14:47453053-47501341
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	CEBPB	chr14:47485732-47485940	HepG2	liver:	n/a	chr14:47485846-47485857 chr14:47485886-47485898
2	CEBPB	chr14:47454833-47454920	A549	lung:	n/a	n/a
3	CEBPB	chr14:47485719-47485919	A549	lung:	n/a	chr14:47485846-47485857 chr14:47485886-47485898
4	CTCF	chr14:47477995-47478009	K562	blood:	n/a	n/a
5	FOS	chr14:47454988-47455205	MCF10A-Er-Src	breast:	n/a	chr14:47455120-47455128 chr14:47455119-47455129 chr14:47455121-47455128 chr14:47455119-47455129 chr14:47455119-47455129 chr14:47455120-47455128
6	FOS	chr14:47494602-47494795	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:47468953-47469143	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:47494611-47494847	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:47454957-47455293	MCF10A-Er-Src	breast:	n/a	chr14:47455120-47455128 chr14:47455119-47455129 chr14:47455121-47455128 chr14:47455119-47455129 chr14:47455119-47455129 chr14:47455120-47455128
10	FOS	chr14:47485644-47485959	MCF10A-Er-Src	breast:	n/a	chr14:47485769-47485779 chr14:47485771-47485782
11	FOS	chr14:47494698-47494781	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:47468915-47469215	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:47494695-47494811	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:47468967-47469151	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA2	chr14:47468421-47468652	HUVEC	blood vessel:	n/a	n/a
16	GTF2F1	chr14:47500752-47500758	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUN	chr14:47485759-47485894	HepG2	liver:	n/a	chr14:47485769-47485779 chr14:47485843-47485856 chr14:47485771-47485782
18	JUN	chr14:47461974-47462037	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr14:47494690-47494814	H1-hESC	embryonic stem cell:	n/a	chr14:47494718-47494729
20	JUND	chr14:47485688-47485831	HepG2	liver:	n/a	chr14:47485769-47485779 chr14:47485768-47485779 chr14:47485771-47485782
21	JUND	chr14:47494562-47494897	HepG2	liver:	n/a	chr14:47494718-47494729
22	MAFF	chr14:47477962-47478299	HepG2	liver:	n/a	chr14:47478130-47478148
23	MAFK	chr14:47478004-47478319	HepG2	liver:	n/a	chr14:47478136-47478147 chr14:47478131-47478147 chr14:47478135-47478146 chr14:47478131-47478146 chr14:47478134-47478148 chr14:47478136-47478147
24	MAFK	chr14:47478126-47478161	K562	blood:	n/a	chr14:47478136-47478147 chr14:47478131-47478147 chr14:47478135-47478146 chr14:47478131-47478146 chr14:47478134-47478148 chr14:47478136-47478147
25	MAFK	chr14:47478042-47478242	Hela-S3	cervix:	n/a	chr14:47478136-47478147 chr14:47478131-47478147 chr14:47478135-47478146 chr14:47478131-47478146 chr14:47478134-47478148 chr14:47478136-47478147
26	MAFK	chr14:47477958-47478317	HepG2	liver:	n/a	chr14:47478136-47478147 chr14:47478131-47478147 chr14:47478135-47478146 chr14:47478131-47478146 chr14:47478134-47478148 chr14:47478136-47478147
27	MAFK	chr14:47477975-47478288	IMR90	lung:	n/a	chr14:47478136-47478147 chr14:47478131-47478147 chr14:47478135-47478146 chr14:47478131-47478146 chr14:47478134-47478148 chr14:47478136-47478147
28	MYC	chr14:47469031-47469042	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr14:47473052-47473329	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr14:47478725-47478729	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr14:47478752-47478925	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:47491404-47491426	A549	lung:	n/a	n/a
33	POLR2A	chr14:47481366-47481503	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr14:47480457-47480779	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr14:47457257-47457276	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr14:47478053-47478106	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr14:47457334-47457476	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr14:47477141-47477432	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr14:47455480-47455613	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:47493489-47493621	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:47473898-47474098	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr14:47496977-47497834	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr14:47453393-47453580	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr14:47461493-47461561	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:47454823-47454847	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr14:47500893-47500931	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:47454447-47454613	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr14:47482394-47482557	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr14:47482015-47482056	MCF10A-Er-Src	breast:	n/a	n/a
50	SPI1	chr14:47453307-47453589	HL-60	blood:	n/a	chr14:47453462-47453471 chr14:47453461-47453474 chr14:47453463-47453470 chr14:47453461-47453474 chr14:47453442-47453455 chr14:47453460-47453473

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-11	chr14:47465657-47466377	NONHSAT036685

Variant related genes	Relation type
RPA2P1	TF binding region

Extended variants
information (count: 981 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547699652	chr14:47454839-47454840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17117878	chr14:47454901-47454902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539795619	chr14:47454930-47454931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11627056	chr14:47454986-47454987	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance disease
5	rs112728540	chr14:47454989-47454990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535577232	chr14:47455009-47455010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555485404	chr14:47455061-47455062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189505993	chr14:47455086-47455087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541261155	chr14:47455113-47455114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565268129	chr14:47455121-47455122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142286151	chr14:47455134-47455135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192968220	chr14:47455143-47455144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61992804	chr14:47455150-47455151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562348657	chr14:47455177-47455178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531384713	chr14:47455200-47455201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11419292	chr14:47455215-47455216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548297931	chr14:47455277-47455278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562920619	chr14:47455291-47455292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561802855	chr14:47455322-47455323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527462807	chr14:47455325-47455326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12435836	chr14:47455332-47455333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11419291	chr14:47455350-47455351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148140543	chr14:47455365-47455366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564257666	chr14:47455429-47455430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539364121	chr14:47455503-47455504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372183568	chr14:47455579-47455580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17117882	chr14:47455661-47455662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569945266	chr14:47455716-47455717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535881973	chr14:47455719-47455720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555423854	chr14:47455721-47455722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71448151	chr14:47455727-47455728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10628124	chr14:47455728-47455729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34616787	chr14:47455729-47455730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72530871	chr14:47455730-47455731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397807235	chr14:47455731-47455732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572234477	chr14:47455788-47455789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562418440	chr14:47455805-47455806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534860040	chr14:47455810-47455811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141924308	chr14:47455811-47455812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546869273	chr14:47455838-47455839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150645641	chr14:47455867-47455868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566693736	chr14:47455868-47455869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528834403	chr14:47455879-47455880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372774830	chr14:47455883-47455884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531455199	chr14:47455892-47455893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140789384	chr14:47455898-47455899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138506210	chr14:47455919-47455920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75883339	chr14:47455926-47455927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548590271	chr14:47455966-47455967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541876554	chr14:47455970-47455971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Osteosarcoma	21215367	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47454800-47455000	Enhancers	Brain Germinal Matrix	brain
2	chr14:47454800-47455400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:47454800-47456000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:47455000-47455400	Enhancers	NH-A	brain
5	chr14:47455000-47455800	Enhancers	Brain Hippocampus Middle	brain
6	chr14:47455000-47463400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:47455200-47455600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:47455200-47455600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:47455200-47455600	Enhancers	Brain Substantia Nigra	brain
10	chr14:47455200-47455600	Enhancers	Fetal Brain Female	brain
11	chr14:47455200-47455800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:47455200-47455800	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:47455400-47457800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:47455600-47458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:47455600-47458600	Weak transcription	Fetal Brain Female	brain
16	chr14:47455600-47460600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:47457600-47458000	Enhancers	Fetal Brain Male	brain
18	chr14:47457800-47459400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:47458000-47460000	Weak transcription	Fetal Brain Male	brain
20	chr14:47458400-47459000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:47458600-47458800	Enhancers	Fetal Brain Female	brain
22	chr14:47460000-47460400	Enhancers	Fetal Brain Male	brain
23	chr14:47460600-47461400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:47461400-47477400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:47463400-47463600	Enhancers	Brain Germinal Matrix	brain
26	chr14:47471000-47473800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:47478800-47479200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:47478800-47479200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:47478800-47479200	Enhancers	Fetal Kidney	kidney
30	chr14:47478800-47479400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:47478800-47479400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:47479000-47479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:47479000-47479400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:47486200-47486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:47492400-47492600	Enhancers	Liver	Liver
36	chr14:47494400-47494800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:47494400-47495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:47495000-47495200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr14:47495200-47496800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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