Variant report

Variant	esv1823950
Chromosome Location	chr14:105012253-105023512
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
2	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:
3	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
4	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
5	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
6	chr14:105017888..105020132-chr14:105106949..105108571,2	MCF-7	breast:
7	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
8	chr14:105022528..105025531-chr14:105027060..105029977,3	K562	blood:
9	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
10	chr14:104824690..104827500-chr14:105019187..105021176,2	MCF-7	breast:
11	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
12	chr14:104603594..104604494-chr14:105016753..105017932,4	MCF-7	breast:
13	chr14:104609989..104612052-chr14:105021237..105023581,2	MCF-7	breast:
14	chr14:105017735..105019335-chr6:28831183..28833671,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258748	chromatin interactions
ENSG00000225595	chromatin interactions

Extended variants
information (count: 569 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34453164	chr14:105012253-105012254	Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75191575	chr14:105012301-105012302	Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137883206	chr14:105012310-105012311	Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs36050392	chr14:105012371-105012372	Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370373122	chr14:105012372-105012373	Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12883404	chr14:105012423-105012424	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560488997	chr14:105012457-105012458	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs532588642	chr14:105012469-105012470	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs140606112	chr14:105012475-105012476	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs375886451	chr14:105012536-105012537	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs150473257	chr14:105012567-105012568	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs74086908	chr14:105012581-105012582	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548096766	chr14:105012593-105012594	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs554280791	chr14:105012728-105012729	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74086909	chr14:105012733-105012734	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12435213	chr14:105012743-105012744	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77946803	chr14:105012744-105012745	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575939555	chr14:105012746-105012747	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576420815	chr14:105012768-105012769	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567154120	chr14:105012834-105012835	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs12435241	chr14:105012858-105012859	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78354537	chr14:105012865-105012866	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs575873197	chr14:105012877-105012878	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs113499138	chr14:105012957-105012958	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs192551360	chr14:105012981-105012982	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs561467447	chr14:105012990-105012991	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs112377800	chr14:105013000-105013001	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs575131342	chr14:105013001-105013002	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs555163514	chr14:105013004-105013005	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs113121907	chr14:105013006-105013007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs112577507	chr14:105013007-105013008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs36048730	chr14:105013031-105013032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs559709851	chr14:105013032-105013033	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs183171377	chr14:105013039-105013040	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs187503581	chr14:105013042-105013043	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs35952476	chr14:105013056-105013057	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs74086912	chr14:105013104-105013105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192603099	chr14:105013105-105013106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371789194	chr14:105013113-105013114	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs548320588	chr14:105013114-105013115	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs567911208	chr14:105013142-105013143	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs533777494	chr14:105013149-105013150	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs531424178	chr14:105013157-105013158	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs547077584	chr14:105013168-105013169	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs34785484	chr14:105013169-105013170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34677118	chr14:105013228-105013229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184851240	chr14:105013249-105013250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs575845576	chr14:105013296-105013297	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs75645172	chr14:105013339-105013340	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs34220962	chr14:105013347-105013348	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105008000-105016600	Enhancers	Fetal Brain Male	brain
2	chr14:105009600-105012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:105009800-105014600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:105011400-105012600	Enhancers	Spleen	Spleen
5	chr14:105011400-105012800	Bivalent Enhancer	Fetal Lung	lung
6	chr14:105011600-105012800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr14:105011600-105013000	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr14:105011600-105013800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:105011800-105012400	Active TSS	Brain Angular Gyrus	brain
10	chr14:105011800-105012400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr14:105011800-105012600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:105011800-105012800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr14:105011800-105013000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:105011800-105013400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr14:105012000-105012400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105012000-105012400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr14:105012000-105012400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:105012000-105012400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:105012000-105012600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr14:105012000-105012600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:105012000-105012800	Bivalent Enhancer	Placenta	Placenta
22	chr14:105012200-105012400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:105012200-105012400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:105012200-105012400	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr14:105012200-105012400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr14:105012200-105012400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
27	chr14:105012200-105012800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr14:105012200-105012800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:105012200-105012800	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr14:105012200-105012800	Flanking Active TSS	Fetal Brain Female	brain
31	chr14:105012200-105013000	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr14:105012400-105012600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:105012400-105012600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:105012400-105012600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:105012400-105012600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr14:105012400-105012600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:105012400-105012600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:105012400-105012600	Enhancers	Lung	lung
39	chr14:105012400-105012800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
40	chr14:105012400-105012800	Bivalent Enhancer	Brain Substantia Nigra	brain
41	chr14:105012400-105012800	Bivalent Enhancer	Right Ventricle	heart
42	chr14:105012400-105013000	Enhancers	Brain Angular Gyrus	brain
43	chr14:105012400-105013000	Enhancers	Brain Anterior Caudate	brain
44	chr14:105012400-105013000	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr14:105012600-105012800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr14:105012600-105012800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:105012600-105012800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr14:105012600-105012800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr14:105012600-105012800	Bivalent Enhancer	HSMMtube	muscle
50	chr14:105012600-105013600	Enhancers	Cortex derived primary cultured neurospheres	brain

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