Variant report

Variant	esv2829997
Chromosome Location	chr14:47674511-47678186
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	chr14:47676880-47677030	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr14:47676898-47677188	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:47676900-47677050	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:47676898-47677133	Medullo	brain:	n/a	n/a
5	CTCF	chr14:47676880-47677030	HFF	foreskin:	n/a	n/a
6	CTCF	chr14:47676960-47677110	HMF	breast:	n/a	n/a
7	CTCF	chr14:47676940-47677077	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr14:47676940-47677090	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr14:47676979-47677048	LNCaP	prostate:	n/a	n/a
10	CTCF	chr14:47676920-47677070	HRE	kidney:	n/a	n/a
11	CTCF	chr14:47676920-47677070	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr14:47676972-47677172	GM12878	blood:	n/a	n/a
13	CTCF	chr14:47676983-47677043	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:47676980-47677130	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr14:47676960-47677110	MCF-7	breast:	n/a	n/a
16	CTCF	chr14:47676900-47677050	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr14:47676920-47677070	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr14:47676900-47677050	HRE	kidney:	n/a	n/a
19	CTCF	chr14:47676910-47677151	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr14:47676935-47677076	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr14:47677000-47677150	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr14:47676925-47677100	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:47676940-47677090	BE2_C	brain:	n/a	n/a
24	CTCF	chr14:47676940-47677090	Caco-2	colon:	n/a	n/a
25	CTCF	chr14:47677476-47677597	IMR90	lung:	n/a	n/a
26	CTCF	chr14:47676900-47677050	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr14:47676900-47677050	RPTEC	kidney:	n/a	n/a
28	CTCF	chr14:47677004-47677026	LNCaP	prostate:	n/a	n/a
29	CTCF	chr14:47676927-47677107	Gliobla	brain:	n/a	n/a
30	CTCF	chr14:47676940-47677090	RPTEC	kidney:	n/a	n/a
31	CTCF	chr14:47677000-47677150	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr14:47677604-47677684	K562	blood:	n/a	n/a
33	CTCF	chr14:47676920-47677070	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr14:47676900-47677184	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:47676993-47677051	HepG2	liver:	n/a	n/a
36	CTCF	chr14:47676980-47677130	NHDF-neo	bronchial:	n/a	n/a
37	E2F4	chr14:47677378-47677611	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr14:47676180-47676316	MCF10A-Er-Src	breast:	n/a	chr14:47676256-47676275 chr14:47676259-47676272 chr14:47676263-47676270 chr14:47676261-47676268
39	POLR2A	chr14:47675954-47675956	A549	lung:	n/a	n/a
40	RAD21	chr14:47676857-47677133	SK-N-SH_RA	brain:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
41	RAD21	chr14:47676787-47677266	ECC-1	luminal epithelium:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
42	RAD21	chr14:47676901-47677181	ECC-1	luminal epithelium:	n/a	chr14:47677010-47677022
43	RAD21	chr14:47676901-47677101	H1-hESC	embryonic stem cell:	n/a	chr14:47677010-47677022
44	RAD21	chr14:47676881-47677179	SK-N-SH_RA	brain:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
45	RAD21	chr14:47676885-47677198	MCF-7	breast:	n/a	chr14:47677010-47677022 chr14:47676896-47676908
46	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: 130 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6572412	chr14:47674511-47674512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141905224	chr14:47674546-47674547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561639855	chr14:47674563-47674564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573147051	chr14:47674565-47674566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544609330	chr14:47674623-47674624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561326065	chr14:47674645-47674646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530220781	chr14:47674667-47674668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186127939	chr14:47674699-47674700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79980473	chr14:47674710-47674711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562010404	chr14:47674732-47674733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532837428	chr14:47674733-47674734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544154453	chr14:47674783-47674784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201037887	chr14:47674797-47674798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552620952	chr14:47674863-47674864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190984176	chr14:47674870-47674871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146097751	chr14:47674947-47674948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113667186	chr14:47674981-47674982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370580057	chr14:47674998-47674999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533016321	chr14:47675017-47675018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556928259	chr14:47675021-47675022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546695198	chr14:47675066-47675067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566978193	chr14:47675107-47675108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17118156	chr14:47675149-47675150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180684524	chr14:47675202-47675203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572737700	chr14:47675219-47675220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546814585	chr14:47675244-47675245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538904265	chr14:47675263-47675264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558537154	chr14:47675267-47675268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575503062	chr14:47675276-47675277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544232067	chr14:47675322-47675323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561309535	chr14:47675399-47675400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566603586	chr14:47675585-47675586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79299977	chr14:47675615-47675616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560646154	chr14:47675619-47675620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532570863	chr14:47675623-47675624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386777179	chr14:47675624-47675625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117165339	chr14:47675636-47675637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143598955	chr14:47675654-47675655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532035339	chr14:47675687-47675688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550160133	chr14:47675812-47675813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566966329	chr14:47675821-47675822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535928757	chr14:47675829-47675830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185993014	chr14:47675856-47675857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566243202	chr14:47675869-47675870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146288531	chr14:47675876-47675877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529497852	chr14:47675896-47675897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575442378	chr14:47676014-47676015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538180142	chr14:47676025-47676026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73248092	chr14:47676038-47676039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139664204	chr14:47676040-47676041	Weak transcription Enhancers	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:28 , 50 per page) page: 1

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

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