Variant report

Variant	esv10989
Chromosome Location	chr14:105368860-105374042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:367)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 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	EP300	chr14:105371734-105372019	GM12878	blood:	n/a	n/a
4	EP300	chr14:105372130-105372777	GM12878	blood:	n/a	n/a
5	FAM48A	chr14:105370679-105370852	GM12878	blood:	n/a	n/a
6	GABPA	chr14:105371543-105371746	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr14:105371814-105372098	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr14:105371809-105373361	HepG2	liver:	n/a	n/a
9	KAP1	chr14:105373638-105374358	HEK293	kidney:	n/a	n/a
10	KAP1	chr14:105369649-105370177	K562	blood:	n/a	n/a
11	KAP1	chr14:105373453-105374272	K562	blood:	n/a	n/a
12	MAFK	chr14:105373360-105373399	HepG2	liver:	n/a	n/a
13	NFIC	chr14:105371264-105371628	ECC-1	luminal epithelium:	n/a	n/a
14	PAX5	chr14:105372391-105372604	GM12878	blood:	n/a	n/a
15	PAX5	chr14:105371487-105371692	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:105372898-105373159	H1-hESC	embryonic stem cell:	n/a	n/a
17	POU2F2	chr14:105371500-105372774	GM12878	blood:	n/a	n/a
18	REST	chr14:105371505-105373047	HepG2	liver:	n/a	n/a
19	REST	chr14:105371472-105373380	PANC-1	pancreas:	n/a	n/a
20	REST	chr14:105371445-105373369	U87	brain:	n/a	n/a
21	SETDB1	chr14:105369833-105370394	U2OS	brain:	n/a	n/a
22	SETDB1	chr14:105373608-105374217	U2OS	brain:	n/a	n/a
23	SPI1	chr14:105371068-105371333	GM12891	blood:	n/a	n/a
24	SRF	chr14:105371492-105372860	GM12878	blood:	n/a	n/a
25	STAT3	chr14:105369951-105370137	MCF10A-Er-Src	breast:	n/a	n/a
26	TAL1	chr14:105369602-105369880	K562	blood:	n/a	n/a
27	TCF12	chr14:105371182-105371665	ECC-1	luminal epithelium:	n/a	n/a
28	TCF12	chr14:105371166-105371643	ECC-1	luminal epithelium:	n/a	n/a
29	TCF3	chr14:105371367-105373381	GM12878	blood:	n/a	n/a
30	ZNF143	chr14:105369913-105370201	K562	blood:	n/a	n/a
31	ZNF143	chr14:105373743-105373752	H1-hESC	embryonic stem cell:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105372186-105372236	NHBE	bronchial:	n/a
2	chr14:105372186-105372236	NHBE	bronchial:	n/a
3	chr14:105373082-105373132	SKMC	muscle:	n/a
4	chr14:105372186-105372236	PFSK-1	brain:	n/a
5	chr14:105373391-105373441	SK-N-MC	brain:	n/a
6	chr14:105373391-105373441	LNCaP	prostate:	n/a
7	chr14:105372186-105372236	SK-N-MC	brain:	n/a
8	chr14:105370983-105371033	ovcar-3	ovarian:	n/a
9	chr14:105372846-105372896	HCF	heart:	n/a
10	chr14:105372186-105372236	AG04449	skin:	fetal
11	chr14:105371541-105371591	NHBE	bronchial:	n/a
12	chr14:105373391-105373441	SKMC	muscle:	n/a
13	chr14:105371541-105371591	GM12891	blood:	n/a
14	chr14:105372186-105372236	HEK293	kidney:	embryo
15	chr14:105371541-105371591	HRPEpiC	eye:	n/a
16	chr14:105373082-105373132	AG09309	skin:	n/a
17	chr14:105372846-105372896	BE2_C	brain:	n/a
18	chr14:105373082-105373132	SK-N-SH_RA	brain:	n/a
19	chr14:105372186-105372236	HRPEpiC	eye:	n/a
20	chr14:105373082-105373132	SK-N-SH	brain:	n/a
21	chr14:105370983-105371033	NT2-D1	testis:	n/a
22	chr14:105373391-105373441	NT2-D1	testis:	n/a
23	chr14:105372186-105372236	HCT-116	colon:	n/a
24	chr14:105372186-105372236	MCF-7	breast:	n/a
25	chr14:105373391-105373441	HEEpiC	esophagus:	n/a
26	chr14:105373391-105373441	A549	lung:	n/a
27	chr14:105371541-105371591	Caco-2	colon:	n/a
28	chr14:105373391-105373441	HL-60	blood:	n/a
29	chr14:105372846-105372896	GM12892	blood:	n/a
30	chr14:105370983-105371033	BJ	skin:	n/a
31	chr14:105370983-105371033	K562	blood:	n/a
32	chr14:105373082-105373132	HCM	heart:	n/a
33	chr14:105371541-105371591	SK-N-SH_RA	brain:	n/a
34	chr14:105373082-105373132	K562	blood:	n/a
35	chr14:105373391-105373441	BE2_C	brain:	n/a
36	chr14:105373391-105373441	BJ	skin:	n/a
37	chr14:105371541-105371591	AG09309	skin:	n/a
38	chr14:105372186-105372236	BE2_C	brain:	n/a
39	chr14:105372846-105372896	CMK	blood:	n/a
40	chr14:105372186-105372236	GM19239	blood:	n/a
41	chr14:105373082-105373132	GM12878	blood:	n/a
42	chr14:105370983-105371033	H1-hESC	embryonic stem cell:	embryo
43	chr14:105373082-105373132	HL-60	blood:	n/a
44	chr14:105372846-105372896	LNCaP	prostate:	n/a
45	chr14:105371541-105371591	LNCaP	prostate:	n/a
46	chr14:105373082-105373132	NHBE	bronchial:	n/a
47	chr14:105370983-105371033	GM12891	blood:	n/a
48	chr14:105371541-105371591	NHDF-neo	bronchial:	n/a
49	chr14:105371541-105371591	H1-hESC	embryonic stem cell:	embryo
50	chr14:105371541-105371591	AG04449	skin:	fetal

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105359445..105362307-chr14:105370488..105372774,2	MCF-7	breast:
2	chr14:105364425..105366237-chr14:105368501..105370477,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 148 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2841250	chr14:105368868-105368869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2582540	chr14:105368881-105368882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112175036	chr14:105368976-105368977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540591836	chr14:105368999-105369000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560804057	chr14:105369000-105369001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143490858	chr14:105369002-105369003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201101463	chr14:105369022-105369023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145638117	chr14:105369026-105369027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201960908	chr14:105369035-105369036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2841251	chr14:105369056-105369057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546372613	chr14:105369074-105369075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563071625	chr14:105369078-105369079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531883921	chr14:105369084-105369085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187287689	chr14:105369092-105369093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190977591	chr14:105369127-105369128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527661378	chr14:105369190-105369191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12894037	chr14:105369235-105369236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570675737	chr14:105369249-105369250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147140286	chr14:105369265-105369266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369991362	chr14:105369281-105369282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72702010	chr14:105369308-105369309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182274594	chr14:105369314-105369315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186597856	chr14:105369324-105369325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143345979	chr14:105369326-105369327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367986759	chr14:105369327-105369328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3055734	chr14:105369345-105369346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370230534	chr14:105369346-105369347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191844807	chr14:105369370-105369371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535200076	chr14:105369402-105369403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375506112	chr14:105369455-105369456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561405480	chr14:105369492-105369493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57482877	chr14:105369517-105369518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2841252	chr14:105369601-105369602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530441118	chr14:105369606-105369607	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540982125	chr14:105369627-105369628	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73355749	chr14:105369645-105369646	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182542124	chr14:105369660-105369661	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2582541	chr14:105369671-105369672	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563111245	chr14:105369701-105369702	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531921407	chr14:105369728-105369729	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188507891	chr14:105369755-105369756	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562180274	chr14:105369775-105369776	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2841253	chr14:105369905-105369906	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139459649	chr14:105369988-105369989	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs150074525	chr14:105370018-105370019	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76000816	chr14:105370033-105370034	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533089567	chr14:105370048-105370049	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549640967	chr14:105370086-105370087	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374210954	chr14:105370122-105370123	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs569535234	chr14:105370133-105370134	Weak transcription ZNF genes & repeats	TF binding 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:17 , 50 per page) page: 1

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

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