Variant report

Variant	esv3529803
Chromosome Location	chr14:105272757-105275905
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 145 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564936621	chr14:105272774-105272775	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs370675066	chr14:105272777-105272778	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	rs112152783	chr14:105272971-105272972	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs113865971	chr14:105272998-105272999	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs367926617	chr14:105273011-105273012	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113425027	chr14:105273012-105273013	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs534398640	chr14:105273049-105273050	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs111745579	chr14:105273053-105273054	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs146302366	chr14:105273055-105273056	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112802271	chr14:105273061-105273062	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200265929	chr14:105273066-105273067	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs386781073	chr14:105273135-105273136	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113634544	chr14:105273139-105273140	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs376775413	chr14:105273141-105273142	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201482765	chr14:105273144-105273145	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs183440511	chr14:105273192-105273193	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs539427235	chr14:105273265-105273266	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs187829810	chr14:105273279-105273280	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189958664	chr14:105273292-105273293	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs541680018	chr14:105273308-105273309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs138580956	chr14:105273458-105273459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376936521	chr14:105273469-105273470	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs77643698	chr14:105273543-105273544	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs540842493	chr14:105273570-105273571	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs564011403	chr14:105273573-105273574	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533076354	chr14:105273574-105273575	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs543049297	chr14:105273575-105273576	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs563338880	chr14:105273578-105273579	Weak transcription Enhancers Genic enhancers	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:91 , 50 per page) page: 1 2

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	chr14:105268200-105272800	Enhancers	Fetal Muscle Leg	muscle
5	chr14:105268200-105273000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:105268400-105273200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
8	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:105268600-105272800	Enhancers	Gastric	stomach
10	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:105268800-105281000	Weak transcription	Primary T cells from cord blood	blood
13	chr14:105269000-105273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:105269000-105279800	Weak transcription	Brain Germinal Matrix	brain
15	chr14:105269000-105280400	Weak transcription	GM12878-XiMat	blood
16	chr14:105269200-105272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:105269200-105280800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:105269400-105273200	Enhancers	Pancreas	Pancrea
19	chr14:105269800-105281400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:105270000-105280600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:105270000-105281400	Weak transcription	Colonic Mucosa	Colon
22	chr14:105270400-105280200	Weak transcription	Fetal Brain Female	brain
23	chr14:105271000-105273800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:105271000-105280800	Weak transcription	Fetal Intestine Small	intestine
25	chr14:105271200-105272800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:105271200-105273000	Enhancers	Lung	lung
27	chr14:105271400-105273000	Enhancers	Right Ventricle	heart
28	chr14:105271600-105272800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:105271600-105272800	Enhancers	Placenta	Placenta
30	chr14:105271800-105273200	Weak transcription	Stomach Mucosa	stomach
31	chr14:105272000-105272800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr14:105272000-105280000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:105272200-105277000	Weak transcription	Fetal Stomach	stomach
34	chr14:105272200-105280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:105272200-105281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:105272200-105281400	Weak transcription	Esophagus	oesophagus
37	chr14:105272200-105281400	Weak transcription	Fetal Lung	lung
38	chr14:105272400-105273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:105272400-105280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105272400-105280400	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:105272400-105281400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:105272400-105281400	Weak transcription	NHLF	lung
43	chr14:105272600-105272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:105272600-105272800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:105272600-105272800	Active TSS	Spleen	Spleen
46	chr14:105272600-105273200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:105272600-105276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:105272600-105277000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:105272600-105280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:105272600-105280600	Weak transcription	Fetal Heart	heart

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