Variant report

Variant	esv3443854
Chromosome Location	chr14:105694907-105702205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105698735-105698767	GM19239	blood:	n/a	n/a
2	CTCF	chr14:105698660-105698810	HA-sp	spinal cord:	n/a	n/a
3	FOXA2	chr14:105697139-105697625	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105695807-105695857	Hepatocyte	liver:	n/a
2	chr14:105695311-105695361	GM12878	blood:	n/a
3	chr14:105695807-105695857	AG09309	skin:	n/a
4	chr14:105695807-105695857	ovcar-3	ovarian:	n/a
5	chr14:105695807-105695857	BJ	skin:	n/a
6	chr14:105695807-105695857	NHBE	bronchial:	n/a
7	chr14:105695311-105695361	HepG2	liver:	n/a
8	chr14:105695807-105695857	SK-N-MC	brain:	n/a
9	chr14:105695807-105695857	PANC-1	pancreas:	n/a
10	chr14:105695311-105695361	HCT-116	colon:	n/a
11	chr14:105695807-105695857	SKMC	muscle:	n/a
12	chr14:105695807-105695857	HAEpiC	amniotic membrane:	n/a
13	chr14:105695807-105695857	HEK293	kidney:	embryo
14	chr14:105695311-105695361	MCF-7	breast:	n/a
15	chr14:105695311-105695361	NHDF-neo	bronchial:	n/a
16	chr14:105695311-105695361	H1-hESC	embryonic stem cell:	embryo
17	chr14:105695311-105695361	HUVEC	blood vessel:	n/a
18	chr14:105695807-105695857	AG04450	lung:	fetal
19	chr14:105695807-105695857	HRE	kidney:	n/a
20	chr14:105695807-105695857	AG09319	gingival:	n/a
21	chr14:105695807-105695857	PFSK-1	brain:	n/a
22	chr14:105695807-105695857	HCPEpiC	choroid plexus:	n/a
23	chr14:105695807-105695857	HCM	heart:	n/a
24	chr14:105695311-105695361	HIPEpiC	eye:	n/a
25	chr14:105695311-105695361	NB4	blood:	n/a
26	chr14:105695311-105695361	PANC-1	pancreas:	n/a
27	chr14:105695807-105695857	MCF10A-Er-Src	breast:	n/a
28	chr14:105695311-105695361	U87	brain:	n/a
29	chr14:105695807-105695857	Jurkat	blood:	n/a
30	chr14:105695311-105695361	HL-60	blood:	n/a
31	chr14:105695311-105695361	AG09319	gingival:	n/a
32	chr14:105695807-105695857	HRPEpiC	eye:	n/a
33	chr14:105695807-105695857	AoSMC	blood vessel:	n/a
34	chr14:105695807-105695857	PrEC	prostate:	n/a
35	chr14:105695807-105695857	ProgFib	skin:	n/a
36	chr14:105695807-105695857	RPTEC	kidney:	n/a
37	chr14:105695807-105695857	HIPEpiC	eye:	n/a
38	chr14:105695807-105695857	GM12878	blood:	n/a
39	chr14:105695311-105695361	HRCEpiC	kidney:	n/a
40	chr14:105695807-105695857	HepG2	liver:	n/a
41	chr14:105695807-105695857	GM06990	blood:	n/a
42	chr14:105695807-105695857	HUVEC	blood vessel:	n/a
43	chr14:105695311-105695361	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:105695807-105695857	GM12891	blood:	n/a
45	chr14:105695311-105695361	HEK293	kidney:	embryo
46	chr14:105695311-105695361	NT2-D1	testis:	n/a
47	chr14:105695311-105695361	HMEC	breast:	n/a
48	chr14:105695807-105695857	HEEpiC	esophagus:	n/a
49	chr14:105695807-105695857	HRCEpiC	kidney:	n/a
50	chr14:105695311-105695361	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
BRF1	TF binding region
BRF1	CpG island

Extended variants
information (count: 263 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:263 , 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	rs111771852	chr14:105694925-105694926	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115342419	chr14:105694926-105694927	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587672373	chr14:105694930-105694931	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587723824	chr14:105694934-105694935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182991542	chr14:105694937-105694938	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587659906	chr14:105694938-105694939	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587769717	chr14:105694942-105694943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149999008	chr14:105694978-105694979	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587719617	chr14:105694990-105694991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587754057	chr14:105694995-105694996	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587624842	chr14:105694996-105694997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587694636	chr14:105695002-105695003	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587746662	chr14:105695008-105695009	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587652434	chr14:105695012-105695013	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587685823	chr14:105695015-105695016	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77001298	chr14:105695016-105695017	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587636544	chr14:105695017-105695018	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587718346	chr14:105695018-105695019	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587594429	chr14:105695020-105695021	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369162162	chr14:105695021-105695022	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587649524	chr14:105695038-105695039	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187619995	chr14:105695049-105695050	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114508838	chr14:105695056-105695057	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587688808	chr14:105695057-105695058	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115563310	chr14:105695061-105695062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191690366	chr14:105695067-105695068	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587698835	chr14:105695077-105695078	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370002067	chr14:105695087-105695088	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587728327	chr14:105695094-105695095	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377556518	chr14:105695100-105695101	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587665882	chr14:105695109-105695110	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374609354	chr14:105695117-105695118	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587731266	chr14:105695118-105695119	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587622675	chr14:105695122-105695123	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369918675	chr14:105695134-105695135	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201411891	chr14:105695140-105695141	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147668617	chr14:105695141-105695142	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371358624	chr14:105695148-105695149	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143363988	chr14:105695162-105695163	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151290358	chr14:105695163-105695164	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140779507	chr14:105695168-105695169	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373957300	chr14:105695169-105695170	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186639069	chr14:105695178-105695179	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200622361	chr14:105695200-105695201	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145711250	chr14:105695201-105695202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587656581	chr14:105695209-105695210	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377191279	chr14:105695210-105695211	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61743597	chr14:105695216-105695217	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587707880	chr14:105695217-105695218	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370062840	chr14:105695227-105695228	Strong transcription Weak transcription ZNF genes & repeats Enhancers 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:192 , 50 per page) page: 1 2 3 4

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	chr14:105672600-105695600	Weak transcription	HMEC	breast
6	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
7	chr14:105674000-105696000	Strong transcription	Fetal Stomach	stomach
8	chr14:105674000-105698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:105674200-105695800	Strong transcription	Fetal Intestine Small	intestine
10	chr14:105674800-105695400	Strong transcription	Fetal Brain Female	brain
11	chr14:105674800-105696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:105675200-105695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:105675400-105695800	Strong transcription	Dnd41	blood
14	chr14:105675600-105695400	Strong transcription	Thymus	Thymus
15	chr14:105675600-105695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
18	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
19	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
20	chr14:105681400-105714200	Weak transcription	HSMM	muscle
21	chr14:105682200-105695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:105682200-105696000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:105682600-105696000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:105682800-105695400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr14:105683000-105695800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:105685600-105707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:105687200-105714000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:105687600-105695600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:105687600-105695800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:105687600-105701000	Weak transcription	Right Atrium	heart
32	chr14:105687800-105695200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:105688000-105695000	Weak transcription	Fetal Heart	heart
34	chr14:105688000-105695200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr14:105688400-105695000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:105688400-105695200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:105688400-105712000	Weak transcription	HepG2	liver
38	chr14:105688800-105713800	Weak transcription	NH-A	brain
39	chr14:105689200-105695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:105689400-105695200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr14:105689400-105695600	Strong transcription	Liver	Liver
42	chr14:105689800-105695800	Weak transcription	Fetal Thymus	thymus
43	chr14:105689800-105707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:105689800-105707200	Weak transcription	Right Ventricle	heart
45	chr14:105689800-105714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:105690000-105710600	Weak transcription	Primary B cells from cord blood	blood
47	chr14:105690200-105713800	Weak transcription	NHEK	skin
48	chr14:105690400-105696400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:105690400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:105690400-105721400	Weak transcription	K562	blood

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