Variant report

Variant	esv3334391
Chromosome Location	chr14:105499770-105499940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105447672..105451166-chr14:105499426..105503853,4	MCF-7	breast:
2	chr14:105432138..105440616-chr14:105496781..105503324,15	MCF-7	breast:
3	chr14:105499123..105501203-chr9:130158900..130160690,2	MCF-7	breast:
4	chr14:105437131..105440834-chr14:105498624..105501222,7	MCF-7	breast:
5	chr14:105456826..105459218-chr14:105499258..105501781,2	MCF-7	breast:
6	chr14:105499189..105502656-chr14:105506829..105510545,6	MCF-7	breast:
7	chr14:105441103..105445393-chr14:105498956..105502062,4	MCF-7	breast:
8	chr14:105499258..105501612-chr16:85499479..85501379,2	MCF-7	breast:
9	chr14:105486985..105489624-chr14:105496760..105500149,4	K562	blood:
10	chr14:105445779..105447281-chr14:105498227..105500995,2	MCF-7	breast:
11	chr1:115050546..115052658-chr14:105498527..105500765,2	MCF-7	breast:
12	chr14:105446908..105449625-chr14:105498780..105501070,3	MCF-7	breast:
13	chr14:105499346..105501568-chr14:105503114..105506089,2	MCF-7	breast:
14	chr14:105328943..105332995-chr14:105497838..105501584,6	MCF-7	breast:
15	chr14:105433924..105437104-chr14:105498642..105500962,4	MCF-7	breast:
16	chr14:105497281..105500034-chr4:2219453..2221537,2	MCF-7	breast:
17	chr14:105499182..105500777-chr14:105502867..105506043,3	MCF-7	breast:
18	chr14:105449882..105456004-chr14:105498600..105502456,9	MCF-7	breast:
19	chr14:105451336..105453703-chr14:105499245..105500790,2	MCF-7	breast:
20	chr14:105441809..105445909-chr14:105498091..105502867,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140104	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000136856	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4559849	chr14:105499783-105499784	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535728500	chr14:105499794-105499795	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs187205929	chr14:105499802-105499803	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs572669486	chr14:105499819-105499820	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs563061632	chr14:105499820-105499821	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs4359372	chr14:105499827-105499828	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4353429	chr14:105499828-105499829	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76280735	chr14:105499854-105499855	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs4613001	chr14:105499858-105499859	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs4359373	chr14:105499859-105499860	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs578121519	chr14:105499865-105499866	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs543812761	chr14:105499866-105499867	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs5009019	chr14:105499885-105499886	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs563491638	chr14:105499886-105499887	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs376021682	chr14:105499889-105499890	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs5009021	chr14:105499890-105499891	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs559162567	chr14:105499897-105499898	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs577769872	chr14:105499916-105499917	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs4594191	chr14:105499920-105499921	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs4359374	chr14:105499921-105499922	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs528255211	chr14:105499936-105499937	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105488800-105499800	Weak transcription	Spleen	Spleen
2	chr14:105497800-105507800	Weak transcription	K562	blood
3	chr14:105499000-105500000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:105499000-105500600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr14:105499200-105499800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:105499200-105500200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:105499200-105500200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:105499200-105500200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:105499200-105500200	Active TSS	Colonic Mucosa	Colon
10	chr14:105499200-105500200	Active TSS	NHDF-Ad	bronchial
11	chr14:105499200-105500400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr14:105499200-105500400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:105499200-105500400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:105499200-105500400	Active TSS	Rectal Smooth Muscle	rectum
15	chr14:105499200-105500600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:105499200-105500600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr14:105499400-105499800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:105499400-105499800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr14:105499400-105499800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:105499400-105499800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:105499400-105499800	Active TSS	Fetal Intestine Small	intestine
22	chr14:105499400-105499800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:105499400-105500000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:105499400-105500000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr14:105499400-105500000	Active TSS	Stomach Smooth Muscle	stomach
26	chr14:105499400-105500200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:105499400-105500200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:105499400-105500200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr14:105499400-105500200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:105499400-105500200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr14:105499400-105500200	Bivalent/Poised TSS	Liver	Liver
32	chr14:105499400-105500200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr14:105499400-105500200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:105499400-105500200	Bivalent/Poised TSS	Fetal Kidney	kidney
35	chr14:105499400-105500200	Bivalent/Poised TSS	Fetal Thymus	thymus
36	chr14:105499400-105500200	Active TSS	Pancreas	Pancrea
37	chr14:105499400-105500200	ZNF genes & repeats	GM12878-XiMat	blood
38	chr14:105499400-105500400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr14:105499400-105500400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:105499400-105500400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:105499400-105500400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr14:105499400-105500400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr14:105499400-105500400	Active TSS	Primary hematopoietic stem cells	blood
44	chr14:105499400-105500400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr14:105499400-105500400	Active TSS	Duodenum Mucosa	Duodenum
46	chr14:105499400-105500400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr14:105499400-105500400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr14:105499400-105500400	Bivalent/Poised TSS	Left Ventricle	heart
49	chr14:105499400-105500400	Active TSS	Right Atrium	heart
50	chr14:105499400-105500400	Active TSS	Osteobl	bone

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