Variant report

Variant	esv3509999
Chromosome Location	chr5:14403553-14404268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:14404038-14404041	GM19239	blood:	n/a	n/a
2	CTCF	chr5:14404119-14404161	GM19239	blood:	n/a	n/a
3	CTCF	chr5:14403720-14403870	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr5:14403522-14403627	GM19239	blood:	n/a	n/a
5	CTCF	chr5:14403867-14404024	GM19239	blood:	n/a	n/a
6	CTCF	chr5:14403862-14403864	GM19239	blood:	n/a	n/a
7	CTCF	chr5:14404111-14404115	GM19239	blood:	n/a	n/a
8	CTCF	chr5:14403850-14403861	GM19239	blood:	n/a	n/a
9	EBF1	chr5:14403666-14404256	GM12878	blood:	n/a	n/a
10	EBF1	chr5:14403659-14404106	GM12878	blood:	n/a	n/a
11	IRF4	chr5:14403513-14404152	GM12878	blood:	n/a	n/a
12	MYC	chr5:14403309-14403586	MCF-7	breast:	n/a	n/a
13	MYC	chr5:14404237-14404258	GM12878	blood:	n/a	n/a
14	MYC	chr5:14403988-14404218	MCF-7	breast:	n/a	n/a
15	MYC	chr5:14403589-14403961	MCF-7	breast:	n/a	n/a
16	PAX5	chr5:14403150-14403602	GM12878	blood:	n/a	n/a
17	PAX5	chr5:14403166-14404310	GM12878	blood:	n/a	n/a
18	PAX5	chr5:14403633-14404114	GM12878	blood:	n/a	n/a
19	PAX5	chr5:14403663-14404022	GM12878	blood:	n/a	n/a
20	PBX3	chr5:14403701-14403880	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:14403145-14404216	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:14403626-14403671	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:14403629-14403993	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:14403677-14403709	MCF-7	breast:	n/a	n/a
25	POLR2A	chr5:14404045-14404056	MCF-7	breast:	n/a	n/a
26	POLR2A	chr5:14403052-14404213	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:14403038-14404229	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:14403152-14404202	GM12891	blood:	n/a	n/a
29	POLR2A	chr5:14402871-14404082	GM12892	blood:	n/a	n/a
30	POLR2A	chr5:14403712-14403788	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:14404144-14404252	A549	lung:	n/a	n/a
32	POLR2A	chr5:14402710-14404261	GM12892	blood:	n/a	n/a
33	POLR2A	chr5:14402387-14404335	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr5:14403590-14403637	ProgFib	skin:	n/a	n/a
35	POLR2A	chr5:14403438-14404311	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:14403461-14404076	A549	lung:	n/a	n/a
37	POLR2A	chr5:14404054-14404118	ProgFib	skin:	n/a	n/a
38	POLR2A	chr5:14403170-14404232	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:14404216-14404420	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:14402519-14404431	GM12892	blood:	n/a	n/a
41	POLR2A	chr5:14402597-14404326	GM12892	blood:	n/a	n/a
42	POLR2A	chr5:14402564-14404330	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:14403806-14403827	MCF-7	breast:	n/a	n/a
44	POU2F2	chr5:14403003-14404276	GM12878	blood:	n/a	n/a
45	POU2F2	chr5:14403030-14404171	GM12891	blood:	n/a	n/a
46	REST	chr5:14403704-14404147	HepG2	liver:	n/a	n/a
47	TAF1	chr5:14403622-14404113	HepG2	liver:	n/a	n/a
48	TCF12	chr5:14403616-14404090	GM12878	blood:	n/a	n/a
49	TCF12	chr5:14403205-14404207	GM12878	blood:	n/a	n/a
50	TCF3	chr5:14403153-14404230	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14399431..14402316-chr5:14403363..14405249,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105A-8	chr5:14404211-14404315	NONHSAT100536
2	lnc-FAM105A-8	chr5:14404211-14404315	NONHSAT100538
3	lnc-FAM105A-8	chr5:14404211-14404315	NONHSAT100535
4	lnc-FAM105A-8	chr5:14404136-14404156	NONHSAT100537
5	lnc-FAM105A-8	chr5:14404211-14404315	NONHSAT100537
6	lnc-FAM105A-8	chr5:14403671-14403691	NONHSAT100538
7	lnc-FAM105A-8	chr5:14404118-14404434	NONHSAT100534

No data

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200621859	chr5:14403554-14403555	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111206297	chr5:14403575-14403576	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369945176	chr5:14403578-14403579	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111162439	chr5:14403580-14403581	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111163330	chr5:14403598-14403599	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200103963	chr5:14403618-14403619	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111163331	chr5:14403619-14403620	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201242784	chr5:14403640-14403641	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111163332	chr5:14403653-14403654	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370769999	chr5:14403757-14403758	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373370909	chr5:14403806-14403807	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559806945	chr5:14403808-14403809	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536365080	chr5:14403812-14403813	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs377476757	chr5:14403827-14403828	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370366460	chr5:14403829-14403830	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111162440	chr5:14403860-14403861	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374711394	chr5:14403881-14403882	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368551081	chr5:14403887-14403888	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533224646	chr5:14403913-14403914	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554504977	chr5:14403925-14403926	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs376039701	chr5:14403926-14403927	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111163333	chr5:14403940-14403941	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111163334	chr5:14403976-14403977	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371364703	chr5:14404002-14404003	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551852225	chr5:14404006-14404007	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374589962	chr5:14404007-14404008	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112450623	chr5:14404033-14404034	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371928577	chr5:14404070-14404071	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563773766	chr5:14404077-14404078	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112020877	chr5:14404081-14404082	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536308194	chr5:14404103-14404104	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112489405	chr5:14404105-14404106	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs113273358	chr5:14404115-14404116	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs111738351	chr5:14404118-14404119	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs112549665	chr5:14404133-14404134	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs566864012	chr5:14404139-14404140	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs201651936	chr5:14404142-14404143	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs538990894	chr5:14404160-14404161	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs112230771	chr5:14404177-14404178	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs375035779	chr5:14404178-14404179	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs199942487	chr5:14404199-14404200	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs549728915	chr5:14404234-14404235	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs567924134	chr5:14404260-14404261	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
2	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:14387200-14405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:14388800-14407200	Weak transcription	Small Intestine	intestine
6	chr5:14392200-14406600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:14392400-14406000	Weak transcription	Fetal Heart	heart
8	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
9	chr5:14392600-14403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:14393600-14413600	Strong transcription	Primary B cells from cord blood	blood
11	chr5:14394400-14405200	Strong transcription	Fetal Intestine Small	intestine
12	chr5:14395200-14406600	Weak transcription	Fetal Kidney	kidney
13	chr5:14395800-14406000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:14395800-14406000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:14397400-14405400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:14397600-14405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:14397600-14405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:14397600-14406200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:14398200-14406000	Weak transcription	Thymus	Thymus
20	chr5:14398400-14404800	Weak transcription	Ovary	ovary
21	chr5:14398400-14406000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:14398600-14405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:14398600-14405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:14398600-14406000	Weak transcription	Esophagus	oesophagus
25	chr5:14398800-14406200	Weak transcription	Aorta	Aorta
26	chr5:14399000-14419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:14399600-14416400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:14400200-14413400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:14400400-14405400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:14400400-14406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:14400600-14415000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:14400800-14403600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:14400800-14408600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:14400800-14416000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:14401000-14403600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:14401000-14404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:14401000-14405400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:14401000-14406600	Weak transcription	Left Ventricle	heart
39	chr5:14401200-14405200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:14401200-14405400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:14401200-14406200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:14401200-14407400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:14401400-14405800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:14401400-14406200	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:14401400-14406600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:14401600-14406000	Weak transcription	Colonic Mucosa	Colon
47	chr5:14401600-14407400	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:14401800-14404800	Weak transcription	Fetal Brain Female	brain
49	chr5:14401800-14405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:14401800-14407200	Weak transcription	Fetal Brain Male	brain

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