Variant report

Variant	esv3400598
Chromosome Location	chr14:55241589-55242017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55241985-55242026	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55241716-55241766	AG04449	skin:	fetal
2	chr14:55241716-55241766	HRE	kidney:	n/a
3	chr14:55241716-55241766	HCM	heart:	n/a
4	chr14:55241716-55241766	HAEpiC	amniotic membrane:	n/a
5	chr14:55241716-55241766	ovcar-3	ovarian:	n/a
6	chr14:55241716-55241766	HRCEpiC	kidney:	n/a
7	chr14:55241716-55241766	CMK	blood:	n/a
8	chr14:55241716-55241766	ProgFib	skin:	n/a
9	chr14:55241716-55241766	PANC-1	pancreas:	n/a
10	chr14:55241716-55241766	BJ	skin:	n/a
11	chr14:55241716-55241766	SK-N-SH	brain:	n/a
12	chr14:55241716-55241766	RPTEC	kidney:	n/a
13	chr14:55241716-55241766	Caco-2	colon:	n/a
14	chr14:55241716-55241766	T-47D	breast:	n/a
15	chr14:55241716-55241766	HCT-116	colon:	n/a
16	chr14:55241716-55241766	MCF10A-Er-Src	breast:	n/a
17	chr14:55241716-55241766	AG09319	gingival:	n/a
18	chr14:55241716-55241766	HL-60	blood:	n/a
19	chr14:55241716-55241766	Hepatocyte	liver:	n/a
20	chr14:55241716-55241766	SAEC	small airway:	n/a
21	chr14:55241716-55241766	PFSK-1	brain:	n/a
22	chr14:55241716-55241766	SK-N-MC	brain:	n/a
23	chr14:55241716-55241766	AG10803	skin:	n/a
24	chr14:55241716-55241766	PrEC	prostate:	n/a
25	chr14:55241716-55241766	HMEC	breast:	n/a
26	chr14:55241716-55241766	HRPEpiC	eye:	n/a
27	chr14:55241716-55241766	HCF	heart:	n/a
28	chr14:55241716-55241766	LNCaP	prostate:	n/a
29	chr14:55241716-55241766	GM12878	blood:	n/a
30	chr14:55241716-55241766	BE2_C	brain:	n/a
31	chr14:55241716-55241766	NB4	blood:	n/a
32	chr14:55241716-55241766	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:55241716-55241766	HEEpiC	esophagus:	n/a
34	chr14:55241716-55241766	MCF-7	breast:	n/a
35	chr14:55241716-55241766	NHDF-neo	bronchial:	n/a
36	chr14:55241716-55241766	GM19239	blood:	n/a
37	chr14:55241716-55241766	AoSMC	blood vessel:	n/a
38	chr14:55241716-55241766	Hela-S3	cervix:	n/a
39	chr14:55241716-55241766	K562	blood:	n/a
40	chr14:55241716-55241766	HUVEC	blood vessel:	n/a
41	chr14:55241716-55241766	Jurkat	blood:	n/a
42	chr14:55241716-55241766	HNPCEpiC	eye:	n/a
43	chr14:55241716-55241766	NH-A	brain:	n/a
44	chr14:55241716-55241766	NHBE	bronchial:	n/a
45	chr14:55241716-55241766	AG09309	skin:	n/a
46	chr14:55241716-55241766	GM06990	blood:	n/a
47	chr14:55241716-55241766	HIPEpiC	eye:	n/a
48	chr14:55241716-55241766	H1-hESC	embryonic stem cell:	embryo
49	chr14:55241716-55241766	SK-N-SH_RA	brain:	n/a
50	chr14:55241716-55241766	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
2	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
3	chr14:55201940..55205634-chr14:55237647..55241617,3	MCF-7	breast:
4	chr14:55191841..55194822-chr14:55240069..55241677,2	K562	blood:
5	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
6	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:
7	chr14:55118792..55121300-chr14:55238690..55241615,2	MCF-7	breast:

No data

Variant related genes	Relation type
SAMD4A	TF binding region
SAMD4A	CpG island
ENSG00000020577	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190318676	chr14:55241614-55241615	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369787578	chr14:55241639-55241640	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373062766	chr14:55241640-55241641	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9323271	chr14:55241645-55241646	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549843285	chr14:55241654-55241655	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139601106	chr14:55241682-55241683	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117806763	chr14:55241685-55241686	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548473167	chr14:55241700-55241701	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146544914	chr14:55241701-55241702	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201673766	chr14:55241716-55241717	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139692268	chr14:55241722-55241723	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530754465	chr14:55241723-55241724	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149840070	chr14:55241724-55241725	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552050726	chr14:55241736-55241737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570642036	chr14:55241746-55241747	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374429893	chr14:55241747-55241748	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145872933	chr14:55241780-55241781	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375678779	chr14:55241794-55241795	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377499262	chr14:55241799-55241800	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370029371	chr14:55241810-55241811	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374545563	chr14:55241821-55241822	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368561516	chr14:55241831-55241832	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535149578	chr14:55241893-55241894	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552714159	chr14:55241908-55241909	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547109779	chr14:55241926-55241927	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs8005758	chr14:55241933-55241934	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113490076	chr14:55241938-55241939	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2295824	chr14:55241941-55241942	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557640033	chr14:55241960-55241961	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575822250	chr14:55241979-55241980	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540041647	chr14:55242008-55242009	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
2	chr14:55236600-55241800	Enhancers	Placenta	Placenta
3	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr14:55237000-55241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:55237200-55242800	Weak transcription	Fetal Brain Female	brain
6	chr14:55237600-55241800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
9	chr14:55239000-55244000	Enhancers	HMEC	breast
10	chr14:55239200-55241600	Weak transcription	Psoas Muscle	Psoas
11	chr14:55239600-55241800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:55239600-55243200	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:55240000-55243200	Enhancers	NH-A	brain
14	chr14:55240000-55244000	Genic enhancers	NHEK	skin
15	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr14:55240000-55250400	Strong transcription	HepG2	liver
17	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:55240200-55244400	Genic enhancers	NHLF	lung
19	chr14:55240400-55242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:55240600-55241600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:55240600-55241600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:55240600-55241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:55240600-55242000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:55240600-55242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:55240600-55243000	Weak transcription	Fetal Lung	lung
26	chr14:55240600-55243800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:55240600-55251200	Weak transcription	Gastric	stomach
28	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:55240800-55241600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:55240800-55241600	Weak transcription	Left Ventricle	heart
33	chr14:55240800-55241600	Weak transcription	Lung	lung
34	chr14:55240800-55241600	Weak transcription	HSMMtube	muscle
35	chr14:55240800-55241800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:55240800-55241800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:55240800-55241800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:55240800-55241800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:55240800-55241800	Enhancers	NHDF-Ad	bronchial
40	chr14:55240800-55242800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:55240800-55242800	Weak transcription	Aorta	Aorta
42	chr14:55240800-55242800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:55240800-55242800	Weak transcription	Fetal Thymus	thymus
44	chr14:55240800-55242800	Weak transcription	GM12878-XiMat	blood
45	chr14:55240800-55243000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:55240800-55243000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:55240800-55244200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:55240800-55245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
50	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links