Variant report

Variant	esv3421042
Chromosome Location	chr14:105320357-105322505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105318741..105320546-chr14:105320767..105322575,2	MCF-7	breast:
2	chr14:105319804..105322828-chr14:105330628..105333185,3	MCF-7	breast:
3	chr14:105319643..105321546-chr14:105328371..105330492,2	K562	blood:
4	chr14:105318741..105320546-chr14:105320767..105322575,2	MCF-7	breast:
5	chr14:105308120..105310289-chr14:105318895..105321279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258811	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368349814	chr14:105320396-105320397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530730546	chr14:105320398-105320399	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550724961	chr14:105320404-105320405	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567153278	chr14:105320473-105320474	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535928674	chr14:105320482-105320483	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552693985	chr14:105320483-105320484	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566130696	chr14:105320555-105320556	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538204113	chr14:105320563-105320564	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183405288	chr14:105320583-105320584	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111349289	chr14:105320587-105320588	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs578175000	chr14:105320617-105320618	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112615811	chr14:105320637-105320638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577986383	chr14:105320666-105320667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188689698	chr14:105320712-105320713	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557513889	chr14:105320767-105320768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192814484	chr14:105320781-105320782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374973607	chr14:105320790-105320791	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543141167	chr14:105320804-105320805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184319287	chr14:105320808-105320809	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533553056	chr14:105320814-105320815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs148957187	chr14:105320853-105320854	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189304247	chr14:105320858-105320859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543222458	chr14:105320897-105320898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191846467	chr14:105320901-105320902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572943753	chr14:105320928-105320929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs111206925	chr14:105320956-105320957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545352867	chr14:105321025-105321026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543580165	chr14:105321059-105321060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116313326	chr14:105321177-105321178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201491602	chr14:105321197-105321198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117121151	chr14:105321224-105321225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200832398	chr14:105321249-105321250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182817940	chr14:105321325-105321326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370657467	chr14:105321346-105321347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549271180	chr14:105321352-105321353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369748458	chr14:105321353-105321354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530812687	chr14:105321377-105321378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147327511	chr14:105321382-105321383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530534679	chr14:105321383-105321384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61995979	chr14:105321385-105321386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560843307	chr14:105321392-105321393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184023841	chr14:105321399-105321400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145666787	chr14:105321401-105321402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189195328	chr14:105321409-105321410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181522956	chr14:105321433-105321434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534780135	chr14:105321448-105321449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551863220	chr14:105321449-105321450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571691025	chr14:105321457-105321458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185871859	chr14:105321481-105321482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190347870	chr14:105321492-105321493	Weak transcription	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
2	chr14:105311800-105322000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:105312600-105329000	Weak transcription	HMEC	breast
4	chr14:105313200-105327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:105318600-105322000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:105318800-105322000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:105318800-105322800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:105318800-105323000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:105318800-105326200	Weak transcription	Pancreas	Pancrea
10	chr14:105319000-105325800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:105320200-105330400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:105320400-105320600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:105320400-105320600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:105320600-105322000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:105321600-105329400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:105322000-105322200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:105322000-105322200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105322000-105322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:105322000-105322400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:105322000-105322600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:105322000-105322800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:105322000-105322800	Enhancers	Fetal Intestine Small	intestine
23	chr14:105322000-105322800	Bivalent Enhancer	HepG2	liver
24	chr14:105322000-105323800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:105322200-105322400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:105322200-105322600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr14:105322200-105322800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:105322200-105323200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:105322400-105322800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:105322400-105323200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:105322400-105323800	Enhancers	Brain Cingulate Gyrus	brain

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