Variant report

Variant	nsv9176
Chromosome Location	chr14:105695412-105707679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
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	chr14:105698660-105698810	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

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105695807-105695857	ProgFib	skin:	n/a
2	chr14:105695807-105695857	Jurkat	blood:	n/a
3	chr14:105707308-105707358	PrEC	prostate:	n/a
4	chr14:105707628-105707678	Hepatocyte	liver:	n/a
5	chr14:105707308-105707358	T-47D	breast:	n/a
6	chr14:105695807-105695857	A549	lung:	n/a
7	chr14:105707308-105707358	HMEC	breast:	n/a
8	chr14:105707628-105707678	HMEC	breast:	n/a
9	chr14:105695807-105695857	HRPEpiC	eye:	n/a
10	chr14:105707628-105707678	AoSMC	blood vessel:	n/a
11	chr14:105695807-105695857	IMR90	lung:	fetal
12	chr14:105695807-105695857	AG09309	skin:	n/a
13	chr14:105707628-105707678	SKMC	muscle:	n/a
14	chr14:105707628-105707678	Hela-S3	cervix:	n/a
15	chr14:105707628-105707678	H1-hESC	embryonic stem cell:	embryo
16	chr14:105707308-105707358	NT2-D1	testis:	n/a
17	chr14:105707628-105707678	T-47D	breast:	n/a
18	chr14:105707628-105707678	GM19239	blood:	n/a
19	chr14:105695807-105695857	HL-60	blood:	n/a
20	chr14:105707308-105707358	HCF	heart:	n/a
21	chr14:105695807-105695857	HRE	kidney:	n/a
22	chr14:105707308-105707358	HepG2	liver:	n/a
23	chr14:105695807-105695857	SK-N-SH_RA	brain:	n/a
24	chr14:105707628-105707678	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:105707308-105707358	GM12878	blood:	n/a
26	chr14:105707308-105707358	IMR90	lung:	fetal
27	chr14:105707308-105707358	HEK293	kidney:	embryo
28	chr14:105707308-105707358	Hela-S3	cervix:	n/a
29	chr14:105707628-105707678	HRCEpiC	kidney:	n/a
30	chr14:105707308-105707358	BE2_C	brain:	n/a
31	chr14:105707308-105707358	MCF10A-Er-Src	breast:	n/a
32	chr14:105707308-105707358	SK-N-SH	brain:	n/a
33	chr14:105695807-105695857	NHBE	bronchial:	n/a
34	chr14:105707628-105707678	Caco-2	colon:	n/a
35	chr14:105707308-105707358	GM12891	blood:	n/a
36	chr14:105695807-105695857	H1-hESC	embryonic stem cell:	embryo
37	chr14:105695807-105695857	GM19239	blood:	n/a
38	chr14:105695807-105695857	NHDF-neo	bronchial:	n/a
39	chr14:105707628-105707678	AG09309	skin:	n/a
40	chr14:105707628-105707678	HCM	heart:	n/a
41	chr14:105707628-105707678	MCF10A-Er-Src	breast:	n/a
42	chr14:105707308-105707358	HIPEpiC	eye:	n/a
43	chr14:105707308-105707358	H1-hESC	embryonic stem cell:	embryo
44	chr14:105707628-105707678	K562	blood:	n/a
45	chr14:105707308-105707358	HL-60	blood:	n/a
46	chr14:105707628-105707678	ovcar-3	ovarian:	n/a
47	chr14:105707628-105707678	IMR90	lung:	fetal
48	chr14:105707308-105707358	HCPEpiC	choroid plexus:	n/a
49	chr14:105707628-105707678	AG04450	lung:	fetal
50	chr14:105707308-105707358	U87	brain:	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: 273 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:273 , 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	rs182253664	chr14:105695414-105695415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75800078	chr14:105695418-105695419	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587657706	chr14:105695424-105695425	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587682952	chr14:105695428-105695429	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76188187	chr14:105695431-105695432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587641577	chr14:105695432-105695433	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587705282	chr14:105695438-105695439	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2018404	chr14:105695446-105695447	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76066549	chr14:105695459-105695460	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587692283	chr14:105695462-105695463	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587744692	chr14:105695466-105695467	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112118329	chr14:105695470-105695471	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2018402	chr14:105695493-105695494	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146162388	chr14:105695497-105695498	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587645005	chr14:105695504-105695505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80058992	chr14:105695508-105695509	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76304605	chr14:105695513-105695514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587668060	chr14:105695516-105695517	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587733065	chr14:105695535-105695536	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587605297	chr14:105695537-105695538	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587666726	chr14:105695539-105695540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118075898	chr14:105695551-105695552	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587648067	chr14:105695553-105695554	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587707071	chr14:105695558-105695559	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373810743	chr14:105695582-105695583	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12431709	chr14:105695583-105695584	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587687511	chr14:105695589-105695590	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587750944	chr14:105695590-105695591	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587643229	chr14:105695592-105695593	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189021889	chr14:105695594-105695595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587646788	chr14:105695616-105695617	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587726755	chr14:105695620-105695621	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181069510	chr14:105695644-105695645	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79342056	chr14:105695645-105695646	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587698976	chr14:105695646-105695647	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201522072	chr14:105695647-105695648	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587705734	chr14:105695652-105695653	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587610732	chr14:105695654-105695655	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587665930	chr14:105695658-105695659	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587729516	chr14:105695670-105695671	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139986541	chr14:105695676-105695677	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587678623	chr14:105695679-105695680	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587760206	chr14:105695680-105695681	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185501069	chr14:105695689-105695690	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587672261	chr14:105695698-105695699	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587730122	chr14:105695700-105695701	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190591933	chr14:105695714-105695715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587691883	chr14:105695718-105695719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587771304	chr14:105695723-105695724	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180873321	chr14:105695728-105695729	Weak transcription Strong transcription Genic enhancers 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:250 , 50 per page) page: 1 2 3 4 5

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	chr14:105674800-105696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:105675200-105695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:105675400-105695800	Strong transcription	Dnd41	blood
13	chr14:105675600-105695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
16	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
17	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
18	chr14:105681400-105714200	Weak transcription	HSMM	muscle
19	chr14:105682200-105695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:105682200-105696000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:105682600-105696000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:105683000-105695800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:105685600-105707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:105687200-105714000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:105687600-105695600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:105687600-105695800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:105687600-105701000	Weak transcription	Right Atrium	heart
29	chr14:105688400-105712000	Weak transcription	HepG2	liver
30	chr14:105688800-105713800	Weak transcription	NH-A	brain
31	chr14:105689200-105695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:105689400-105695600	Strong transcription	Liver	Liver
33	chr14:105689800-105695800	Weak transcription	Fetal Thymus	thymus
34	chr14:105689800-105707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105689800-105707200	Weak transcription	Right Ventricle	heart
36	chr14:105689800-105714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:105690000-105710600	Weak transcription	Primary B cells from cord blood	blood
38	chr14:105690200-105713800	Weak transcription	NHEK	skin
39	chr14:105690400-105696400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:105690400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:105690400-105721400	Weak transcription	K562	blood
42	chr14:105690800-105695600	Weak transcription	Fetal Kidney	kidney
43	chr14:105691000-105695800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:105691000-105707200	Weak transcription	Aorta	Aorta
45	chr14:105691600-105714000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:105692000-105707600	Weak transcription	A549	lung
47	chr14:105692200-105695800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:105693000-105707400	Weak transcription	Colonic Mucosa	Colon
49	chr14:105693000-105710200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:105693000-105713600	Weak transcription	Rectal Smooth Muscle	rectum

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