Variant report

Variant	esv1838254
Chromosome Location	chr14:105366499-105373951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:427)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr14:105369835-105370253	K562	blood:	n/a	n/a
2	CTCF	chr14:105369860-105370010	WI-38	lung:	n/a	n/a
3	E2F4	chr14:105367909-105367917	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr14:105372130-105372777	GM12878	blood:	n/a	n/a
5	EP300	chr14:105371734-105372019	GM12878	blood:	n/a	n/a
6	FAM48A	chr14:105370679-105370852	GM12878	blood:	n/a	n/a
7	GABPA	chr14:105371543-105371746	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr14:105371809-105373361	HepG2	liver:	n/a	n/a
9	GABPA	chr14:105371814-105372098	Hela-S3	cervix:	n/a	n/a
10	KAP1	chr14:105369649-105370177	K562	blood:	n/a	n/a
11	KAP1	chr14:105373638-105374358	HEK293	kidney:	n/a	n/a
12	KAP1	chr14:105373453-105374272	K562	blood:	n/a	n/a
13	MAFK	chr14:105373360-105373399	HepG2	liver:	n/a	n/a
14	NFIC	chr14:105371264-105371628	ECC-1	luminal epithelium:	n/a	n/a
15	PAX5	chr14:105372391-105372604	GM12878	blood:	n/a	n/a
16	PAX5	chr14:105371487-105371692	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:105372898-105373159	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:105367213-105367324	GM12878	blood:	n/a	n/a
19	POU2F2	chr14:105371500-105372774	GM12878	blood:	n/a	n/a
20	REST	chr14:105371505-105373047	HepG2	liver:	n/a	n/a
21	REST	chr14:105371445-105373369	U87	brain:	n/a	n/a
22	REST	chr14:105371472-105373380	PANC-1	pancreas:	n/a	n/a
23	RUNX3	chr14:105367307-105367746	GM12878	blood:	n/a	n/a
24	RUNX3	chr14:105367381-105367721	GM12878	blood:	n/a	n/a
25	SETDB1	chr14:105373608-105374217	U2OS	brain:	n/a	n/a
26	SETDB1	chr14:105369833-105370394	U2OS	brain:	n/a	n/a
27	SPI1	chr14:105366163-105366523	HL-60	blood:	n/a	n/a
28	SPI1	chr14:105371068-105371333	GM12891	blood:	n/a	n/a
29	SPI1	chr14:105366225-105366507	GM12891	blood:	n/a	n/a
30	SRF	chr14:105371492-105372860	GM12878	blood:	n/a	n/a
31	STAT3	chr14:105369951-105370137	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr14:105367453-105367782	MCF10A-Er-Src	breast:	n/a	n/a
33	TAL1	chr14:105369602-105369880	K562	blood:	n/a	n/a
34	TCF12	chr14:105371182-105371665	ECC-1	luminal epithelium:	n/a	n/a
35	TCF12	chr14:105371166-105371643	ECC-1	luminal epithelium:	n/a	n/a
36	TCF3	chr14:105371367-105373381	GM12878	blood:	n/a	n/a
37	ZNF143	chr14:105373743-105373752	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr14:105369913-105370201	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105371541-105371591	Caco-2	colon:	n/a
2	chr14:105370983-105371033	HEEpiC	esophagus:	n/a
3	chr14:105370983-105371033	SK-N-SH	brain:	n/a
4	chr14:105372186-105372236	BJ	skin:	n/a
5	chr14:105373082-105373132	SK-N-SH_RA	brain:	n/a
6	chr14:105370983-105371033	AG09319	gingival:	n/a
7	chr14:105368685-105368735	HAEpiC	amniotic membrane:	n/a
8	chr14:105368685-105368735	HNPCEpiC	eye:	n/a
9	chr14:105371541-105371591	AG10803	skin:	n/a
10	chr14:105371541-105371591	Hepatocyte	liver:	n/a
11	chr14:105372846-105372896	GM12891	blood:	n/a
12	chr14:105372846-105372896	HPAEpiC	pulmonary alveolar:	n/a
13	chr14:105370983-105371033	U87	brain:	n/a
14	chr14:105373391-105373441	PANC-1	pancreas:	n/a
15	chr14:105372186-105372236	NB4	blood:	n/a
16	chr14:105372186-105372236	AG04450	lung:	fetal
17	chr14:105373082-105373132	NB4	blood:	n/a
18	chr14:105371541-105371591	ECC-1	luminal epithelium:	n/a
19	chr14:105372186-105372236	AG10803	skin:	n/a
20	chr14:105372846-105372896	BE2_C	brain:	n/a
21	chr14:105372846-105372896	HCF	heart:	n/a
22	chr14:105370983-105371033	HIPEpiC	eye:	n/a
23	chr14:105372186-105372236	ovcar-3	ovarian:	n/a
24	chr14:105372846-105372896	SKMC	muscle:	n/a
25	chr14:105371541-105371591	K562	blood:	n/a
26	chr14:105372186-105372236	Jurkat	blood:	n/a
27	chr14:105370983-105371033	GM12891	blood:	n/a
28	chr14:105371541-105371591	CMK	blood:	n/a
29	chr14:105373391-105373441	A549	lung:	n/a
30	chr14:105372846-105372896	GM19239	blood:	n/a
31	chr14:105371541-105371591	AG04449	skin:	fetal
32	chr14:105373082-105373132	LNCaP	prostate:	n/a
33	chr14:105372846-105372896	GM12878	blood:	n/a
34	chr14:105372186-105372236	NHDF-neo	bronchial:	n/a
35	chr14:105368685-105368735	ProgFib	skin:	n/a
36	chr14:105372186-105372236	LNCaP	prostate:	n/a
37	chr14:105370983-105371033	ECC-1	luminal epithelium:	n/a
38	chr14:105372846-105372896	HRCEpiC	kidney:	n/a
39	chr14:105368685-105368735	HUVEC	blood vessel:	n/a
40	chr14:105372186-105372236	HEEpiC	esophagus:	n/a
41	chr14:105368685-105368735	SK-N-MC	brain:	n/a
42	chr14:105371541-105371591	HNPCEpiC	eye:	n/a
43	chr14:105371541-105371591	H1-hESC	embryonic stem cell:	embryo
44	chr14:105371541-105371591	PFSK-1	brain:	n/a
45	chr14:105370983-105371033	MCF10A-Er-Src	breast:	n/a
46	chr14:105368685-105368735	NH-A	brain:	n/a
47	chr14:105372846-105372896	HNPCEpiC	eye:	n/a
48	chr14:105372846-105372896	ECC-1	luminal epithelium:	n/a
49	chr14:105370983-105371033	SKMC	muscle:	n/a
50	chr14:105372186-105372236	RPTEC	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105360836..105362867-chr14:105365317..105367503,2	K562	blood:
2	chr14:105359525..105362336-chr14:105366003..105367947,2	K562	blood:
3	chr14:105364425..105366237-chr14:105368501..105370477,2	K562	blood:
4	chr14:105359445..105362307-chr14:105370488..105372774,2	MCF-7	breast:
5	chr14:105365193..105367745-chr14:105399799..105401436,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0284-1	chr14:105371474-105371541	ENSG00000259067
2	lnc-KIAA0284-1	chr14:105371069-105371327	ENSG00000259067
3	lnc-KIAA0284-1	chr14:105370679-105370935	ENSG00000259067

No data

Variant related genes	Relation type
ENSG00000259067	TF binding region
ENSG00000259067	CpG island
ENSG00000099814	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs920499	chr14:105366499-105366500	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374910830	chr14:105366519-105366520	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs115755284	chr14:105366520-105366521	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545031724	chr14:105366607-105366608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111382676	chr14:105366645-105366646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558815659	chr14:105366667-105366668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151101377	chr14:105366688-105366689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544507735	chr14:105366692-105366693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2582538	chr14:105366721-105366722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141043461	chr14:105366761-105366762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2841247	chr14:105366762-105366763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559958343	chr14:105366770-105366771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532144456	chr14:105366800-105366801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150227122	chr14:105366805-105366806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370977659	chr14:105366830-105366831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568834401	chr14:105366871-105366872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531152343	chr14:105366877-105366878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550849502	chr14:105366910-105366911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531645142	chr14:105366922-105366923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs80079114	chr14:105366940-105366941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76780023	chr14:105366942-105366943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567539074	chr14:105366954-105366955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375924301	chr14:105366977-105366978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531188872	chr14:105367015-105367016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116784275	chr14:105367034-105367035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116500112	chr14:105367035-105367036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566804567	chr14:105367046-105367047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187175138	chr14:105367055-105367056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113424551	chr14:105367071-105367072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192326146	chr14:105367111-105367112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373688910	chr14:105367183-105367184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140581279	chr14:105367194-105367195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184535795	chr14:105367199-105367200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373074653	chr14:105367286-105367287	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190121094	chr14:105367352-105367353	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536420390	chr14:105367354-105367355	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182177580	chr14:105367367-105367368	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547202878	chr14:105367368-105367369	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560198427	chr14:105367378-105367379	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs35161267	chr14:105367409-105367410	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532157670	chr14:105367480-105367481	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs56691735	chr14:105367518-105367519	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185620807	chr14:105367562-105367563	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531189853	chr14:105367596-105367597	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs74635881	chr14:105367728-105367729	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566198412	chr14:105367756-105367757	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145650150	chr14:105367757-105367758	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561202737	chr14:105367778-105367779	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530233300	chr14:105367811-105367812	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs80343483	chr14:105367826-105367827	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
2	chr14:105355400-105367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:105362600-105368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:105364200-105366600	Weak transcription	Pancreas	Pancrea
5	chr14:105365800-105370800	Weak transcription	Fetal Lung	lung
6	chr14:105366200-105367600	Enhancers	GM12878-XiMat	blood
7	chr14:105366600-105366800	Enhancers	Pancreas	Pancrea
8	chr14:105367600-105368000	Flanking Active TSS	GM12878-XiMat	blood
9	chr14:105368000-105369600	Weak transcription	GM12878-XiMat	blood
10	chr14:105369600-105371400	ZNF genes & repeats	GM12878-XiMat	blood
11	chr14:105369800-105371000	ZNF genes & repeats	HSMMtube	muscle
12	chr14:105370800-105371000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:105370800-105371000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:105370800-105371000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr14:105370800-105371000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr14:105370800-105371400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:105370800-105371400	Enhancers	Fetal Lung	lung
18	chr14:105371000-105371200	Bivalent/Poised TSS	Small Intestine	intestine
19	chr14:105371000-105371400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:105371000-105371400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:105371000-105371600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr14:105371200-105371400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
23	chr14:105373400-105373600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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