Variant report

Variant	esv3524229
Chromosome Location	chr14:105272007-105276705
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
2	chr14:105270335..105272175-chr14:105398279..105400751,2	K562	blood:
3	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
4	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:
5	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
6	chr14:105155908..105158880-chr14:105275037..105277471,2	MCF-7	breast:
7	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
8	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
9	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
10	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
11	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
12	chr14:105275614..105278023-chr17:32632159..32633680,2	MCF-7	breast:
13	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
14	chr14:105271965..105273558-chr6:154674183..154677149,2	MCF-7	breast:
15	chr14:105272219..105273865-chr9:134838230..134839731,2	MCF-7	breast:
16	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
17	chr14:105267306..105268128-chr14:105276242..105277034,2	MCF-7	breast:
18	chr14:105269866..105272402-chr8:125485710..125488000,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258858	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000184990	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:208 , 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	rs562820174	chr14:105272038-105272039	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs191411107	chr14:105272041-105272042	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs548397930	chr14:105272052-105272053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs181880519	chr14:105272056-105272057	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs114381726	chr14:105272117-105272118	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546978463	chr14:105272138-105272139	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs542803747	chr14:105272174-105272175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs539422082	chr14:105272241-105272242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs151229199	chr14:105272290-105272291	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs569549920	chr14:105272315-105272316	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs538040738	chr14:105272336-105272337	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs559325713	chr14:105272342-105272343	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs574985406	chr14:105272347-105272348	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs527771376	chr14:105272373-105272374	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs534333129	chr14:105272397-105272398	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs541196049	chr14:105272416-105272417	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs554320037	chr14:105272445-105272446	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs577119653	chr14:105272472-105272473	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs546191878	chr14:105272526-105272527	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs556166369	chr14:105272560-105272561	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs564112919	chr14:105272584-105272585	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs533173588	chr14:105272625-105272626	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541620931	chr14:105272631-105272632	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187012058	chr14:105272671-105272672	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs45490496	chr14:105272678-105272679	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117561132	chr14:105272699-105272700	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564936621	chr14:105272774-105272775	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs370675066	chr14:105272777-105272778	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs61995965	chr14:105272806-105272807	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191397514	chr14:105272817-105272818	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs45478396	chr14:105272824-105272825	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566178362	chr14:105272850-105272851	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs569429688	chr14:105272860-105272861	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532080595	chr14:105272862-105272863	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200267171	chr14:105272893-105272894	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs534682339	chr14:105272896-105272897	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs200063951	chr14:105272908-105272909	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs75741910	chr14:105272926-105272927	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200842212	chr14:105272933-105272934	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs61995966	chr14:105272936-105272937	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs113120322	chr14:105272939-105272940	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs371589234	chr14:105272944-105272945	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs373766177	chr14:105272945-105272946	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs74884728	chr14:105272948-105272949	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs76159636	chr14:105272951-105272952	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs73350342	chr14:105272955-105272956	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs148585797	chr14:105272963-105272964	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201146524	chr14:105272966-105272967	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs113172805	chr14:105272969-105272970	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113196158	chr14:105272970-105272971	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105268000-105273000	Weak transcription	Brain Anterior Caudate	brain
2	chr14:105268000-105280400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:105268000-105281000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:105268200-105272400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:105268200-105272800	Enhancers	Fetal Muscle Leg	muscle
6	chr14:105268200-105273000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105268400-105273200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
9	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:105268600-105272800	Enhancers	Gastric	stomach
11	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:105268800-105281000	Weak transcription	Primary T cells from cord blood	blood
14	chr14:105269000-105273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:105269000-105279800	Weak transcription	Brain Germinal Matrix	brain
16	chr14:105269000-105280400	Weak transcription	GM12878-XiMat	blood
17	chr14:105269200-105272600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:105269200-105272600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:105269200-105272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:105269200-105280800	Weak transcription	Fetal Intestine Large	intestine
21	chr14:105269400-105273200	Enhancers	Pancreas	Pancrea
22	chr14:105269800-105272600	Enhancers	K562	blood
23	chr14:105269800-105281400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:105270000-105272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:105270000-105272600	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:105270000-105272600	Enhancers	A549	lung
27	chr14:105270000-105280600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:105270000-105281400	Weak transcription	Colonic Mucosa	Colon
29	chr14:105270400-105272600	Enhancers	Fetal Heart	heart
30	chr14:105270400-105280200	Weak transcription	Fetal Brain Female	brain
31	chr14:105270600-105272600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:105271000-105272400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:105271000-105273800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:105271000-105280800	Weak transcription	Fetal Intestine Small	intestine
35	chr14:105271200-105272400	Enhancers	HepG2	liver
36	chr14:105271200-105272400	Enhancers	HSMM	muscle
37	chr14:105271200-105272600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:105271200-105272800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:105271200-105273000	Enhancers	Lung	lung
40	chr14:105271400-105272200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:105271400-105272400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:105271400-105272400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:105271400-105272400	Enhancers	Hela-S3	cervix
44	chr14:105271400-105272400	Enhancers	NHLF	lung
45	chr14:105271400-105272600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:105271400-105272600	Enhancers	NH-A	brain
47	chr14:105271400-105273000	Enhancers	Right Ventricle	heart
48	chr14:105271600-105272200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:105271600-105272200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:105271600-105272200	Enhancers	Fetal Lung	lung

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