Variant report

Variant	esv3347022
Chromosome Location	chr14:105288807-105293305
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105280954..105282466-chr14:105292119..105293629,2	K562	blood:
2	chr14:105264645..105268219-chr14:105292165..105294813,6	K562	blood:
3	chr14:105233810..105238299-chr14:105291361..105295745,6	K562	blood:
4	chr14:105235443..105237438-chr14:105291289..105294293,4	K562	blood:
5	chr14:105280966..105282808-chr14:105292129..105294295,2	K562	blood:
6	chr14:105292149..105293877-chr14:105432490..105434872,2	MCF-7	breast:
7	chr14:105189826..105192403-chr14:105291424..105294271,3	MCF-7	breast:
8	chr14:105289983..105292400-chr14:105295807..105297431,2	MCF-7	breast:
9	chr14:105214906..105217436-chr14:105291555..105293979,2	K562	blood:
10	chr14:105214906..105218911-chr14:105291555..105293979,3	K562	blood:
11	chr14:105287225..105290811-chr14:105291462..105294551,5	K562	blood:
12	chr14:105290213..105292759-chr8:144821047..144823089,2	MCF-7	breast:
13	chr14:105189504..105190527-chr14:105292721..105293350,3	MCF-7	breast:
14	chr14:105261231..105263792-chr14:105289415..105291496,2	K562	blood:
15	chr14:105234486..105235367-chr14:105292449..105293276,4	MCF-7	breast:
16	chr14:105234590..105235623-chr14:105292148..105293402,8	K562	blood:
17	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
18	chr14:105292450..105295087-chr14:105329500..105333525,7	MCF-7	breast:
19	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:
20	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
21	chr14:105218306..105221418-chr14:105291704..105295058,3	MCF-7	breast:
22	chr14:105234529..105236014-chr14:105292452..105293414,8	MCF-7	breast:
23	chr14:105190468..105192484-chr14:105291233..105293061,2	MCF-7	breast:
24	chr14:105293283..105294221-chr14:105511851..105512622,2	MCF-7	breast:
25	chr14:105197416..105200391-chr14:105289343..105292189,2	MCF-7	breast:
26	chr14:105282552..105286026-chr14:105289483..105293569,5	K562	blood:
27	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
28	chr14:105291374..105295422-chr14:105328190..105336195,18	MCF-7	breast:
29	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
30	chr14:105292002..105293559-chr14:105403118..105405949,2	MCF-7	breast:
31	chr14:105226070..105227570-chr14:105291620..105294600,2	MCF-7	breast:
32	chr14:105217398..105221846-chr14:105284355..105288810,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142208	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000258701	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368335994	chr14:105288823-105288824	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs553503624	chr14:105288826-105288827	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs576636359	chr14:105288851-105288852	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs545456892	chr14:105288868-105288869	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs562991368	chr14:105288879-105288880	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556006554	chr14:105288932-105288933	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs575976909	chr14:105288943-105288944	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs193203344	chr14:105288944-105288945	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138872022	chr14:105288948-105288949	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531761729	chr14:105288998-105288999	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs548542930	chr14:105289037-105289038	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs185142906	chr14:105289051-105289052	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs142800530	chr14:105289058-105289059	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532777167	chr14:105289086-105289087	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190093173	chr14:105289089-105289090	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115697658	chr14:105289156-105289157	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs531719155	chr14:105289170-105289171	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs568398469	chr14:105289203-105289204	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548336850	chr14:105289224-105289225	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568445447	chr14:105289237-105289238	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs80022267	chr14:105289257-105289258	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs55961253	chr14:105289294-105289295	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552102471	chr14:105289298-105289299	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs539282957	chr14:105289342-105289343	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547707398	chr14:105289350-105289351	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570530995	chr14:105289395-105289396	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570663893	chr14:105289396-105289397	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34606736	chr14:105289402-105289403	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34565379	chr14:105289403-105289404	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369269650	chr14:105289408-105289409	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576103825	chr14:105289438-105289439	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541912846	chr14:105289445-105289446	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116859871	chr14:105289500-105289501	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572090312	chr14:105289529-105289530	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540902191	chr14:105289668-105289669	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373414514	chr14:105289672-105289673	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12895042	chr14:105289694-105289695	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12893710	chr14:105289695-105289696	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556379619	chr14:105289718-105289719	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560797062	chr14:105289726-105289727	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139534887	chr14:105289737-105289738	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs79578115	chr14:105289751-105289752	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373546982	chr14:105289759-105289760	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562993225	chr14:105289772-105289773	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531658399	chr14:105289779-105289780	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569728669	chr14:105289790-105289791	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548671800	chr14:105289823-105289824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12894160	chr14:105289827-105289828	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs527700021	chr14:105289846-105289847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547265756	chr14:105289863-105289864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105283200-105292200	Weak transcription	Gastric	stomach
2	chr14:105283400-105292000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105283400-105292000	Weak transcription	Right Atrium	heart
4	chr14:105283600-105292000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:105283600-105292000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:105283800-105292000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:105283800-105292200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:105284000-105289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:105284000-105292000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:105284400-105292200	Weak transcription	K562	blood
11	chr14:105284600-105290800	Weak transcription	Fetal Kidney	kidney
12	chr14:105285000-105292200	Weak transcription	Dnd41	blood
13	chr14:105287200-105292000	Weak transcription	NH-A	brain
14	chr14:105287200-105292600	Weak transcription	HSMMtube	muscle
15	chr14:105287400-105292000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:105287400-105292000	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:105287400-105292000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:105287400-105292000	Weak transcription	Pancreas	Pancrea
19	chr14:105287400-105292000	Weak transcription	Right Ventricle	heart
20	chr14:105287600-105292000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:105287600-105292000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:105287600-105292000	Weak transcription	HMEC	breast
23	chr14:105287600-105292200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:105287800-105291200	Weak transcription	Esophagus	oesophagus
25	chr14:105287800-105292000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:105287800-105292000	Weak transcription	Left Ventricle	heart
27	chr14:105287800-105292000	Weak transcription	Ovary	ovary
28	chr14:105287800-105292000	Weak transcription	A549	lung
29	chr14:105287800-105292200	Weak transcription	Brain Anterior Caudate	brain
30	chr14:105288000-105292000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:105288000-105292000	Weak transcription	Colonic Mucosa	Colon
32	chr14:105288000-105292200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:105288200-105289600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:105288200-105290400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:105288400-105289400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:105288400-105292000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:105288600-105289400	Weak transcription	Placenta	Placenta
38	chr14:105288800-105289000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:105288800-105289000	Bivalent Enhancer	HepG2	liver
40	chr14:105288800-105289800	Active TSS	Spleen	Spleen
41	chr14:105289000-105289200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr14:105289400-105289800	Enhancers	Placenta	Placenta
43	chr14:105289800-105291800	Weak transcription	Spleen	Spleen
44	chr14:105290800-105291400	ZNF genes & repeats	Fetal Kidney	kidney
45	chr14:105290800-105291400	Bivalent/Poised TSS	Fetal Lung	lung
46	chr14:105291000-105291800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:105291000-105292800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:105291200-105292200	Enhancers	Esophagus	oesophagus
49	chr14:105291400-105292200	Weak transcription	Fetal Kidney	kidney
50	chr14:105291600-105291800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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