Variant report

Variant	esv3355845
Chromosome Location	chr14:105344907-105349205
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105348765..105350400-chr14:105351876..105353640,2	MCF-7	breast:
2	chr14:105329866..105333084-chr14:105347618..105350775,5	MCF-7	breast:
3	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
4	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
5	chr14:105260881..105263647-chr14:105343476..105346245,2	K562	blood:
6	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:
7	chr14:105232900..105235354-chr14:105346063..105347686,2	K562	blood:
8	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
9	chr14:105341650..105345212-chr14:105361341..105364354,4	MCF-7	breast:
10	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
11	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
12	chr14:105345517..105346193-chr14:105435321..105435898,2	MCF-7	breast:
13	chr14:105170806..105173679-chr14:105343574..105346385,2	MCF-7	breast:
14	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
15	chr14:105345637..105347359-chr14:105353237..105355891,2	MCF-7	breast:
16	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
17	chr14:105279959..105283279-chr14:105346411..105348850,3	MCF-7	breast:
18	chr14:105247569..105249557-chr14:105347096..105349716,2	K562	blood:
19	chr14:105284603..105287527-chr14:105343615..105347092,3	MCF-7	breast:
20	chr14:105348832..105350459-chr14:105350760..105352328,2	K562	blood:
21	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:
22	chr14:105219031..105220671-chr14:105346376..105348521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184990	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372967151	chr14:105344909-105344910	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528104117	chr14:105344919-105344920	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145003340	chr14:105344946-105344947	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571077045	chr14:105344950-105344951	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540088503	chr14:105345005-105345006	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7150561	chr14:105345035-105345036	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531511093	chr14:105345059-105345060	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58276039	chr14:105345068-105345069	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530686082	chr14:105345081-105345082	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374026981	chr14:105345082-105345083	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555930502	chr14:105345084-105345085	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572548629	chr14:105345124-105345125	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535037964	chr14:105345140-105345141	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558096507	chr14:105345143-105345144	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577868541	chr14:105345191-105345192	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72700168	chr14:105345207-105345208	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563427363	chr14:105345214-105345215	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192952986	chr14:105345233-105345234	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115692922	chr14:105345276-105345277	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544101866	chr14:105345296-105345297	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559045965	chr14:105345305-105345306	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11850207	chr14:105345312-105345313	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2582561	chr14:105345331-105345332	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529828573	chr14:105345347-105345348	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546523995	chr14:105345390-105345391	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562633028	chr14:105345412-105345413	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550488851	chr14:105345436-105345437	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184028694	chr14:105345439-105345440	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536082350	chr14:105345454-105345455	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549568305	chr14:105345473-105345474	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189204198	chr14:105345480-105345481	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535074909	chr14:105345535-105345536	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116970908	chr14:105345601-105345602	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72700170	chr14:105345608-105345609	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537035879	chr14:105345619-105345620	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181531510	chr14:105345641-105345642	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557250263	chr14:105345654-105345655	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573571646	chr14:105345679-105345680	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542432366	chr14:105345701-105345702	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185101953	chr14:105345737-105345738	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76041493	chr14:105345781-105345782	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs72700172	chr14:105345798-105345799	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564817935	chr14:105345806-105345807	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530559047	chr14:105345808-105345809	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550283951	chr14:105345816-105345817	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563990824	chr14:105345818-105345819	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs60933594	chr14:105345832-105345833	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368633689	chr14:105345851-105345852	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529576886	chr14:105345859-105345860	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371637284	chr14:105345862-105345863	Weak transcription Strong transcription Bivalent Enhancer	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:256 , 50 per page) page: 1 2 3 4 5 6

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	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
6	chr14:105333600-105346600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:105333600-105346600	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:105334000-105346800	Weak transcription	Brain Anterior Caudate	brain
9	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:105334400-105348600	Weak transcription	Fetal Brain Male	brain
11	chr14:105336200-105346600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:105339400-105346600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:105339400-105348600	Weak transcription	Fetal Kidney	kidney
14	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
15	chr14:105339600-105346000	Weak transcription	Spleen	Spleen
16	chr14:105339600-105346600	Weak transcription	Ovary	ovary
17	chr14:105339600-105346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:105339600-105363000	Weak transcription	NH-A	brain
20	chr14:105340000-105346600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:105340000-105346800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:105340000-105346800	Weak transcription	Fetal Lung	lung
23	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
25	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:105340200-105346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:105340200-105346800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:105340400-105346600	Weak transcription	HSMM	muscle
29	chr14:105340800-105348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:105340800-105349000	Weak transcription	Stomach Mucosa	stomach
31	chr14:105341200-105350400	Strong transcription	NHLF	lung
32	chr14:105341400-105346400	Weak transcription	HSMMtube	muscle
33	chr14:105341600-105348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:105342000-105347200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr14:105342200-105346800	Weak transcription	HUVEC	blood vessel
36	chr14:105342200-105348400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:105342400-105345000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:105342400-105348000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:105342400-105348400	Strong transcription	NHEK	skin
40	chr14:105342600-105346800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:105342800-105349400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:105343000-105347800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
46	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
47	chr14:105343200-105345200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:105343200-105346800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:105343200-105348200	Strong transcription	Gastric	stomach
50	chr14:105343200-105348800	Strong transcription	Rectal Mucosa Donor 29	rectum

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