Variant report

Variant	esv1800444
Chromosome Location	chr14:105695815-105708838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:428)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105698660-105698810	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr14:105698735-105698767	GM19239	blood:	n/a	n/a
3	FOXA2	chr14:105697139-105697625	A549	lung:	n/a	n/a
4	POLR2A	chr14:105708131-105708139	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:105707785-105707820	ProgFib	skin:	n/a	n/a
6	POLR2A	chr14:105707941-105708120	MCF-7	breast:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105708255-105708305	HIPEpiC	eye:	n/a
2	chr14:105708255-105708305	HIPEpiC	eye:	n/a
3	chr14:105707308-105707358	HCT-116	colon:	n/a
4	chr14:105707692-105707742	SK-N-MC	brain:	n/a
5	chr14:105695807-105695857	HIPEpiC	eye:	n/a
6	chr14:105708255-105708305	CMK	blood:	n/a
7	chr14:105707308-105707358	HMEC	breast:	n/a
8	chr14:105707628-105707678	SK-N-SH_RA	brain:	n/a
9	chr14:105708343-105708393	SK-N-SH	brain:	n/a
10	chr14:105695807-105695857	HEK293	kidney:	embryo
11	chr14:105707747-105707797	IMR90	lung:	fetal
12	chr14:105708255-105708305	AoSMC	blood vessel:	n/a
13	chr14:105707692-105707742	AG09309	skin:	n/a
14	chr14:105707692-105707742	ovcar-3	ovarian:	n/a
15	chr14:105708343-105708393	BE2_C	brain:	n/a
16	chr14:105708343-105708393	HRCEpiC	kidney:	n/a
17	chr14:105708255-105708305	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:105695807-105695857	HCT-116	colon:	n/a
19	chr14:105707692-105707742	K562	blood:	n/a
20	chr14:105707628-105707678	NHDF-neo	bronchial:	n/a
21	chr14:105707308-105707358	T-47D	breast:	n/a
22	chr14:105707308-105707358	SAEC	small airway:	n/a
23	chr14:105708255-105708305	HUVEC	blood vessel:	n/a
24	chr14:105708343-105708393	U87	brain:	n/a
25	chr14:105707747-105707797	SK-N-SH_RA	brain:	n/a
26	chr14:105695807-105695857	AoSMC	blood vessel:	n/a
27	chr14:105707628-105707678	HIPEpiC	eye:	n/a
28	chr14:105707747-105707797	GM12878	blood:	n/a
29	chr14:105708343-105708393	HMEC	breast:	n/a
30	chr14:105707628-105707678	SAEC	small airway:	n/a
31	chr14:105707747-105707797	NB4	blood:	n/a
32	chr14:105695807-105695857	SK-N-SH_RA	brain:	n/a
33	chr14:105707628-105707678	HL-60	blood:	n/a
34	chr14:105695807-105695857	AG04450	lung:	fetal
35	chr14:105708255-105708305	Hela-S3	cervix:	n/a
36	chr14:105707308-105707358	HCF	heart:	n/a
37	chr14:105707692-105707742	HCT-116	colon:	n/a
38	chr14:105707747-105707797	HNPCEpiC	eye:	n/a
39	chr14:105695807-105695857	Hepatocyte	liver:	n/a
40	chr14:105708343-105708393	HAEpiC	amniotic membrane:	n/a
41	chr14:105707628-105707678	HNPCEpiC	eye:	n/a
42	chr14:105707628-105707678	GM19239	blood:	n/a
43	chr14:105707747-105707797	H1-hESC	embryonic stem cell:	embryo
44	chr14:105707628-105707678	MCF-7	breast:	n/a
45	chr14:105708255-105708305	ECC-1	luminal epithelium:	n/a
46	chr14:105708343-105708393	NHDF-neo	bronchial:	n/a
47	chr14:105707692-105707742	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:105708343-105708393	Caco-2	colon:	n/a
49	chr14:105707747-105707797	AG04450	lung:	fetal
50	chr14:105708255-105708305	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105706521..105709177-chr14:105712711..105714374,2	MCF-7	breast:
2	chr14:105706872..105708771-chr14:105714517..105716369,2	MCF-7	breast:

No data

Variant related genes	Relation type
BRF1	TF binding region
BRF1	CpG island
ENSG00000185024	chromatin interactions
ENSG00000184887	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587615602	chr14:105695816-105695817	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs587689065	chr14:105695818-105695819	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs587749564	chr14:105695829-105695830	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs140387111	chr14:105695830-105695831	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs150364832	chr14:105695831-105695832	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs368846087	chr14:105695832-105695833	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs587774530	chr14:105695834-105695835	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs138035634	chr14:105695836-105695837	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs57899525	chr14:105695837-105695838	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs587598504	chr14:105695842-105695843	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs192211218	chr14:105695845-105695846	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs587703802	chr14:105695846-105695847	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs149077740	chr14:105695849-105695850	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs587748942	chr14:105695850-105695851	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs2816645	chr14:105695854-105695855	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs587661313	chr14:105695857-105695858	Weak transcription Strong transcription Active TSS Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs587739385	chr14:105695864-105695865	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183486740	chr14:105695868-105695869	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144710818	chr14:105695870-105695871	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587726190	chr14:105695875-105695876	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587648130	chr14:105695876-105695877	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112041489	chr14:105695885-105695886	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587705211	chr14:105695888-105695889	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138574498	chr14:105695892-105695893	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375037560	chr14:105695903-105695904	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587664136	chr14:105695904-105695905	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587693551	chr14:105695912-105695913	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587755143	chr14:105695918-105695919	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587645584	chr14:105695920-105695921	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376774983	chr14:105695926-105695927	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117230703	chr14:105695930-105695931	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72709734	chr14:105695931-105695932	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72709736	chr14:105695932-105695933	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs587724649	chr14:105695937-105695938	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587606627	chr14:105695939-105695940	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113096936	chr14:105695941-105695942	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146180958	chr14:105695942-105695943	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587598908	chr14:105695943-105695944	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587667777	chr14:105695946-105695947	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587729351	chr14:105695947-105695948	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587647805	chr14:105695956-105695957	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117952084	chr14:105695957-105695958	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587766467	chr14:105695959-105695960	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587639679	chr14:105695963-105695964	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117595811	chr14:105695964-105695965	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587754730	chr14:105695966-105695967	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587634179	chr14:105695969-105695970	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587685149	chr14:105695979-105695980	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587770202	chr14:105695980-105695981	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587649129	chr14:105695981-105695982	Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	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
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
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	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
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
2	chr14:105669800-105713800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:105671400-105697000	Weak transcription	Small Intestine	intestine
4	chr14:105672400-105713200	Weak transcription	Osteobl	bone
5	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
6	chr14:105674000-105696000	Strong transcription	Fetal Stomach	stomach
7	chr14:105674000-105698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:105674800-105696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
11	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
12	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
13	chr14:105681400-105714200	Weak transcription	HSMM	muscle
14	chr14:105682200-105696000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:105682600-105696000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105685600-105707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:105687200-105714000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:105687600-105701000	Weak transcription	Right Atrium	heart
20	chr14:105688400-105712000	Weak transcription	HepG2	liver
21	chr14:105688800-105713800	Weak transcription	NH-A	brain
22	chr14:105689800-105707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:105689800-105707200	Weak transcription	Right Ventricle	heart
24	chr14:105689800-105714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:105690000-105710600	Weak transcription	Primary B cells from cord blood	blood
26	chr14:105690200-105713800	Weak transcription	NHEK	skin
27	chr14:105690400-105696400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:105690400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:105690400-105721400	Weak transcription	K562	blood
30	chr14:105691000-105707200	Weak transcription	Aorta	Aorta
31	chr14:105691600-105714000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:105692000-105707600	Weak transcription	A549	lung
33	chr14:105693000-105707400	Weak transcription	Colonic Mucosa	Colon
34	chr14:105693000-105710200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:105693000-105713600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:105693200-105698600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:105693200-105707200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:105693200-105707200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:105693200-105707200	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:105693200-105707200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105693200-105707200	Weak transcription	Gastric	stomach
42	chr14:105693200-105707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:105693200-105707400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:105693200-105707400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:105693200-105707400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:105693200-105708000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:105693200-105708200	Weak transcription	Brain Anterior Caudate	brain
48	chr14:105693200-105713400	Weak transcription	GM12878-XiMat	blood
49	chr14:105693200-105713400	Weak transcription	Hela-S3	cervix
50	chr14:105693200-105713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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