Variant report

Variant	esv3406567
Chromosome Location	chr14:105344362-105344738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105284603..105287527-chr14:105343615..105347092,3	MCF-7	breast:
2	chr14:105341650..105345212-chr14:105361341..105364354,4	MCF-7	breast:
3	chr14:105170806..105173679-chr14:105343574..105346385,2	MCF-7	breast:
4	chr14:105260881..105263647-chr14:105343476..105346245,2	K562	blood:
5	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
6	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:

Variant related genes	Relation type
ENSG00000142208	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34009344	chr14:105344419-105344420	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546363250	chr14:105344450-105344451	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556413427	chr14:105344461-105344462	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192475948	chr14:105344478-105344479	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs78834134	chr14:105344487-105344488	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370465479	chr14:105344488-105344489	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542262170	chr14:105344513-105344514	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562023525	chr14:105344522-105344523	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2304756	chr14:105344533-105344534	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541381677	chr14:105344545-105344546	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2304755	chr14:105344568-105344569	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116652440	chr14:105344591-105344592	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs41310934	chr14:105344603-105344604	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569673242	chr14:105344607-105344608	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528946869	chr14:105344666-105344667	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548577679	chr14:105344668-105344669	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565384698	chr14:105344697-105344698	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575571778	chr14:105344704-105344705	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534309952	chr14:105344707-105344708	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373748193	chr14:105344718-105344719	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554079568	chr14:105344719-105344720	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367553168	chr14:105344731-105344732	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 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
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	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

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105333200-105346600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:105333200-105346800	Weak transcription	Brain Substantia Nigra	brain
3	chr14:105333200-105346800	Weak transcription	A549	lung
4	chr14:105333200-105347200	Weak transcription	Left Ventricle	heart
5	chr14:105333400-105344400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:105333400-105344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:105333400-105344600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:105333400-105344800	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
10	chr14:105333600-105346600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:105333600-105346600	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:105333800-105344400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:105334000-105346800	Weak transcription	Brain Anterior Caudate	brain
14	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:105334400-105348600	Weak transcription	Fetal Brain Male	brain
16	chr14:105336200-105346600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:105338800-105344400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105339400-105344600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:105339400-105344800	Weak transcription	Osteobl	bone
20	chr14:105339400-105346600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:105339400-105348600	Weak transcription	Fetal Kidney	kidney
22	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
23	chr14:105339600-105344400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:105339600-105346000	Weak transcription	Spleen	Spleen
25	chr14:105339600-105346600	Weak transcription	Ovary	ovary
26	chr14:105339600-105346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:105339600-105363000	Weak transcription	NH-A	brain
29	chr14:105340000-105346600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:105340000-105346800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:105340000-105346800	Weak transcription	Fetal Lung	lung
32	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
34	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:105340200-105344800	Weak transcription	Placenta	Placenta
36	chr14:105340200-105346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:105340200-105346800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:105340400-105346600	Weak transcription	HSMM	muscle
39	chr14:105340800-105348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:105340800-105349000	Weak transcription	Stomach Mucosa	stomach
41	chr14:105341200-105350400	Strong transcription	NHLF	lung
42	chr14:105341400-105346400	Weak transcription	HSMMtube	muscle
43	chr14:105341600-105344400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:105341600-105348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:105342000-105344400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:105342000-105347200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr14:105342200-105346800	Weak transcription	HUVEC	blood vessel
48	chr14:105342200-105348400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:105342400-105345000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:105342400-105348000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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