Variant report

Variant	esv3530608
Chromosome Location	chr14:47671891-47678323
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	CTCF	chr14:47676900-47677184	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:47676940-47677090	BE2_C	brain:	n/a	n/a
3	CTCF	chr14:47676940-47677077	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr14:47676940-47677090	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr14:47676980-47677130	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr14:47677604-47677684	K562	blood:	n/a	n/a
7	CTCF	chr14:47676927-47677107	Gliobla	brain:	n/a	n/a
8	CTCF	chr14:47676900-47677050	HRE	kidney:	n/a	n/a
9	CTCF	chr14:47676979-47677048	LNCaP	prostate:	n/a	n/a
10	CTCF	chr14:47676900-47677050	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr14:47676940-47677090	RPTEC	kidney:	n/a	n/a
12	CTCF	chr14:47676880-47677030	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr14:47676972-47677172	GM12878	blood:	n/a	n/a
14	CTCF	chr14:47676900-47677050	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr14:47676935-47677076	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr14:47676960-47677110	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:47676983-47677043	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:47676940-47677090	Caco-2	colon:	n/a	n/a
19	CTCF	chr14:47676920-47677070	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr14:47677000-47677150	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr14:47676898-47677133	Medullo	brain:	n/a	n/a
22	CTCF	chr14:47677000-47677150	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr14:47676880-47677030	HFF	foreskin:	n/a	n/a
24	CTCF	chr14:47676920-47677070	HRE	kidney:	n/a	n/a
25	CTCF	chr14:47676920-47677070	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr14:47676960-47677110	HMF	breast:	n/a	n/a
27	CTCF	chr14:47677004-47677026	LNCaP	prostate:	n/a	n/a
28	CTCF	chr14:47676920-47677070	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr14:47676898-47677188	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:47676900-47677050	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:47676993-47677051	HepG2	liver:	n/a	n/a
32	CTCF	chr14:47677476-47677597	IMR90	lung:	n/a	n/a
33	CTCF	chr14:47676925-47677100	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:47676980-47677130	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr14:47676900-47677050	RPTEC	kidney:	n/a	n/a
36	CTCF	chr14:47676910-47677151	HUVEC	blood vessel:	n/a	n/a
37	E2F4	chr14:47677378-47677611	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr14:47672289-47672438	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr14:47676180-47676316	MCF10A-Er-Src	breast:	n/a	chr14:47676256-47676275 chr14:47676259-47676272 chr14:47676263-47676270 chr14:47676261-47676268
40	POLR2A	chr14:47675954-47675956	A549	lung:	n/a	n/a
41	RAD21	chr14:47676857-47677133	SK-N-SH_RA	brain:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
42	RAD21	chr14:47676881-47677179	SK-N-SH_RA	brain:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
43	RAD21	chr14:47676901-47677181	ECC-1	luminal epithelium:	n/a	chr14:47677010-47677022
44	RAD21	chr14:47676787-47677266	ECC-1	luminal epithelium:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
45	RAD21	chr14:47676901-47677101	H1-hESC	embryonic stem cell:	n/a	chr14:47677010-47677022
46	RAD21	chr14:47676885-47677198	MCF-7	breast:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
47	RAD21	chr14:47676852-47677148	H1-hESC	embryonic stem cell:	n/a	chr14:47677010-47677022 chr14:47676896-47676908

Variant related genes	Relation type
RPL13AP2	TF binding region

Extended variants
information (count: 208 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77254893	chr14:47671893-47671894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534780654	chr14:47671954-47671955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551490070	chr14:47671978-47671979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146521282	chr14:47672028-47672029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149100815	chr14:47672079-47672080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191308360	chr14:47672168-47672169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115682244	chr14:47672187-47672188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143133241	chr14:47672239-47672240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536993606	chr14:47672247-47672248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183778434	chr14:47672284-47672285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189681632	chr14:47672304-47672305	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs151194614	chr14:47672322-47672323	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs556087516	chr14:47672345-47672346	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs564174379	chr14:47672512-47672513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140230971	chr14:47672547-47672548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146951576	chr14:47672632-47672633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375037237	chr14:47672744-47672745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563381104	chr14:47672798-47672799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529177578	chr14:47672806-47672807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370054956	chr14:47672864-47672865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548903135	chr14:47672883-47672884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527522116	chr14:47672926-47672927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137984951	chr14:47672961-47672962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55883947	chr14:47672966-47672967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113526585	chr14:47673001-47673002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143436093	chr14:47673084-47673085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571674975	chr14:47673097-47673098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537153739	chr14:47673149-47673150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551152730	chr14:47673158-47673159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567804457	chr14:47673201-47673202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536922102	chr14:47673217-47673218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113366430	chr14:47673269-47673270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553674380	chr14:47673330-47673331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573594307	chr14:47673344-47673345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576046000	chr14:47673357-47673358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534557302	chr14:47673363-47673364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557468309	chr14:47673393-47673394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577661876	chr14:47673403-47673404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145726694	chr14:47673412-47673413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139354781	chr14:47673448-47673449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149430844	chr14:47673481-47673482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542438477	chr14:47673560-47673561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538232937	chr14:47673573-47673574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144809070	chr14:47673587-47673588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181234337	chr14:47673816-47673817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17118153	chr14:47673839-47673840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531025628	chr14:47673849-47673850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550822288	chr14:47673926-47673927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115150947	chr14:47674003-47674004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185083694	chr14:47674026-47674027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47671200-47672200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:47671400-47672000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:47671600-47672000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:47671600-47672000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:47671600-47672200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:47671600-47672200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:47671800-47672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:47671800-47672400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:47671800-47672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:47672000-47680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:47672200-47676600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:47672200-47676600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:47672200-47677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:47672400-47676600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:47675000-47675200	Enhancers	Brain Angular Gyrus	brain
16	chr14:47675000-47675400	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:47675000-47678000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:47675200-47675400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:47675200-47675600	Enhancers	Brain Substantia Nigra	brain
20	chr14:47675400-47676800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:47675600-47676800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:47676400-47678200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:47676600-47677000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:47676600-47677200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:47676600-47678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:47676800-47677000	Enhancers	Liver	Liver
27	chr14:47676800-47677000	Enhancers	Brain Angular Gyrus	brain
28	chr14:47676800-47677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:47676800-47677400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:47676800-47677800	Enhancers	HUVEC	blood vessel
31	chr14:47677000-47677800	Flanking Active TSS	Liver	Liver
32	chr14:47677200-47680400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:47677200-47689200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:47677400-47678200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:47677800-47678000	Enhancers	Liver	Liver
36	chr14:47677800-47679000	Weak transcription	HUVEC	blood vessel
37	chr14:47678000-47680400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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