Variant report

Variant	esv3351796
Chromosome Location	chr14:105610048-105610451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105609926..105615692-chr14:105616858..105625128,9	K562	blood:
2	chr14:105566584..105569448-chr14:105610028..105612847,2	MCF-7	breast:
3	chr14:105603827..105606395-chr14:105610368..105612251,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184916	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 111 )

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	rs587695266	chr14:105610076-105610077	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs587755314	chr14:105610080-105610081	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143961550	chr14:105610093-105610094	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375890230	chr14:105610112-105610113	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10139201	chr14:105610115-105610116	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs77356449	chr14:105610145-105610146	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183936001	chr14:105610181-105610182	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587725668	chr14:105610182-105610183	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140714983	chr14:105610234-105610235	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188280443	chr14:105610247-105610248	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191244444	chr14:105610278-105610279	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201604735	chr14:105610339-105610340	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587671983	chr14:105610343-105610344	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587738810	chr14:105610357-105610358	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117059470	chr14:105610361-105610362	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184813950	chr14:105610367-105610368	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587745049	chr14:105610373-105610374	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371778702	chr14:105610391-105610392	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587698739	chr14:105610401-105610402	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144430746	chr14:105610402-105610403	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs151085872	chr14:105610413-105610414	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12434777	chr14:105610431-105610432	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:111)

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
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105602800-105629800	Weak transcription	K562	blood
2	chr14:105606400-105617800	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:105606800-105618000	Weak transcription	Psoas Muscle	Psoas
4	chr14:105606800-105619600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:105606800-105631600	Weak transcription	Hela-S3	cervix
6	chr14:105607000-105615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:105607000-105615400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:105607000-105618200	Strong transcription	Gastric	stomach
9	chr14:105607000-105621600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:105607200-105610400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:105607200-105611200	Strong transcription	Esophagus	oesophagus
12	chr14:105607200-105613000	Strong transcription	Fetal Muscle Leg	muscle
13	chr14:105607200-105614000	Strong transcription	Fetal Brain Female	brain
14	chr14:105607200-105616000	Strong transcription	HMEC	breast
15	chr14:105607200-105619600	Weak transcription	Colonic Mucosa	Colon
16	chr14:105607400-105611000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:105607400-105611200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:105607400-105612000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:105607400-105612400	Weak transcription	Brain Anterior Caudate	brain
20	chr14:105607400-105619200	Strong transcription	Pancreas	Pancrea
21	chr14:105607600-105611800	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:105607600-105612000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:105607600-105616000	Strong transcription	Fetal Intestine Small	intestine
24	chr14:105607600-105617600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:105607600-105625400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:105607600-105632000	Weak transcription	Brain Angular Gyrus	brain
27	chr14:105608000-105611000	Strong transcription	NHEK	skin
28	chr14:105608000-105618000	Strong transcription	Adipose Nuclei	Adipose
29	chr14:105608200-105616400	Strong transcription	Right Ventricle	heart
30	chr14:105608600-105611600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:105608600-105613200	Weak transcription	HSMMtube	muscle
32	chr14:105608800-105611400	Weak transcription	Fetal Stomach	stomach
33	chr14:105608800-105611800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:105608800-105612000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:105608800-105612800	Weak transcription	A549	lung
36	chr14:105608800-105618400	Strong transcription	Lung	lung
37	chr14:105609000-105615000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:105609200-105612000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:105609400-105610200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105609400-105610800	Weak transcription	Spleen	Spleen
41	chr14:105609400-105631400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:105609600-105618800	Weak transcription	Placenta	Placenta
43	chr14:105609600-105622000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:105609800-105610600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:105609800-105612000	Weak transcription	Left Ventricle	heart
46	chr14:105610000-105611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:105610000-105611400	Weak transcription	Brain Germinal Matrix	brain
48	chr14:105610000-105631400	Weak transcription	HUVEC	blood vessel
49	chr14:105610200-105625200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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