Variant report

Variant	esv3328715
Chromosome Location	chr14:104639249-104641747
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104637508..104640421-chr14:104649656..104651711,3	MCF-7	breast:
2	chr14:104603737..104606003-chr14:104636716..104639612,2	MCF-7	breast:
3	chr14:104636638..104639934-chr14:104644485..104647895,3	MCF-7	breast:
4	chr14:104637580..104639264-chr14:104654137..104656969,2	MCF-7	breast:
5	chr14:104641001..104643795-chr14:104659198..104661496,2	MCF-7	breast:
6	chr14:104630276..104632688-chr14:104639185..104641198,2	MCF-7	breast:
7	chr14:104637815..104640571-chr14:104677890..104680782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066735	chromatin interactions
ENSG00000258748	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs558868453	chr14:104639249-104639250	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575533890	chr14:104639270-104639271	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35249579	chr14:104639280-104639281	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75113198	chr14:104639284-104639285	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372321505	chr14:104639296-104639297	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375491612	chr14:104639321-104639322	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540747073	chr14:104639333-104639334	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs367884478	chr14:104639338-104639339	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117777904	chr14:104639351-104639352	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532379589	chr14:104639358-104639359	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552498450	chr14:104639364-104639365	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs267603892	chr14:104639366-104639367	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369084517	chr14:104639402-104639403	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531648547	chr14:104639403-104639404	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199503701	chr14:104639422-104639423	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556925513	chr14:104639429-104639430	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377093118	chr14:104639430-104639431	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369538661	chr14:104639438-104639439	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs61743543	chr14:104639439-104639440	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566949169	chr14:104639441-104639442	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201934446	chr14:104639442-104639443	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs61743542	chr14:104639454-104639455	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369009781	chr14:104639465-104639466	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542732061	chr14:104639471-104639472	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs61744299	chr14:104639479-104639480	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145304498	chr14:104639484-104639485	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200636236	chr14:104639499-104639500	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61743517	chr14:104639519-104639520	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370521884	chr14:104639531-104639532	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201175395	chr14:104639536-104639537	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376308267	chr14:104639561-104639562	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554519192	chr14:104639562-104639563	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371178408	chr14:104639572-104639573	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574808011	chr14:104639573-104639574	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192047921	chr14:104639580-104639581	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2275594	chr14:104639586-104639587	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373964798	chr14:104639592-104639593	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs201706518	chr14:104639607-104639608	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545300003	chr14:104639637-104639638	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368705674	chr14:104639641-104639642	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11622217	chr14:104639644-104639645	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531609564	chr14:104639645-104639646	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200778306	chr14:104639648-104639649	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs57928850	chr14:104639655-104639656	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs202197284	chr14:104639669-104639670	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573067195	chr14:104639688-104639689	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575241452	chr14:104639698-104639699	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370306538	chr14:104639699-104639700	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539160620	chr14:104639710-104639711	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376823456	chr14:104639728-104639729	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	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

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104616200-104645000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:104617600-104640200	Weak transcription	Fetal Lung	lung
3	chr14:104630000-104642000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:104637200-104639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:104637200-104640400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:104637200-104646400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104637400-104639400	Genic enhancers	Brain Germinal Matrix	brain
8	chr14:104637400-104647600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:104637600-104639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:104637600-104647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:104637800-104639600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:104637800-104641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104637800-104645200	Strong transcription	Fetal Brain Female	brain
14	chr14:104637800-104647400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:104638000-104650800	Weak transcription	Right Atrium	heart
16	chr14:104638200-104640400	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:104638200-104644400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:104638200-104647800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:104638400-104641600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:104638600-104639400	Enhancers	Right Ventricle	heart
21	chr14:104638600-104639600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:104638600-104644400	Strong transcription	Fetal Stomach	stomach
23	chr14:104638600-104645000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:104638800-104639600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:104638800-104642000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:104638800-104643200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr14:104638800-104644600	Weak transcription	Gastric	stomach
28	chr14:104638800-104646400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:104639000-104639400	Genic enhancers	Fetal Intestine Small	intestine
30	chr14:104639000-104639400	Weak transcription	Spleen	Spleen
31	chr14:104639000-104640200	Weak transcription	Pancreas	Pancrea
32	chr14:104639000-104641600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:104639000-104643000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:104639000-104643000	Weak transcription	Placenta	Placenta
35	chr14:104639000-104643800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:104639000-104644200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:104639000-104647200	Weak transcription	Ovary	ovary
38	chr14:104639000-104650600	Weak transcription	Esophagus	oesophagus
39	chr14:104639200-104639400	Genic enhancers	Fetal Intestine Large	intestine
40	chr14:104639200-104639800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:104639200-104639800	Weak transcription	Lung	lung
42	chr14:104639400-104639600	Weak transcription	Right Ventricle	heart
43	chr14:104639400-104640200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr14:104639400-104643800	Strong transcription	Spleen	Spleen
45	chr14:104639400-104646600	Strong transcription	Fetal Intestine Small	intestine
46	chr14:104639400-104648000	Strong transcription	Brain Germinal Matrix	brain
47	chr14:104639600-104639800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:104639600-104640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:104639600-104641400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:104639600-104643000	Strong transcription	Right Ventricle	heart

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