Variant report

Variant	esv3419899
Chromosome Location	chr14:104008749-104011547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103964404..103966727-chr14:104006569..104008780,2	K562	blood:
2	chr14:103967396..103969451-chr14:104009245..104011145,2	MCF-7	breast:
3	chr14:104009722..104012574-chr14:104026131..104028003,2	K562	blood:
4	chr14:103801342..103804122-chr14:104010938..104012453,2	K562	blood:
5	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
6	chr14:104007446..104009155-chr14:104027649..104030499,2	K562	blood:

Variant related genes	Relation type
ENSG00000075413	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000256053	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546514837	chr14:104008750-104008751	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs566398401	chr14:104008779-104008780	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs538532437	chr14:104008786-104008787	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558501871	chr14:104008824-104008825	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138533070	chr14:104008828-104008829	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs112312627	chr14:104008835-104008836	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs371084212	chr14:104008871-104008872	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs537190802	chr14:104008894-104008895	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs192957764	chr14:104008912-104008913	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573954250	chr14:104008955-104008956	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs543014987	chr14:104008995-104008996	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs375073498	chr14:104009010-104009011	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs560103730	chr14:104009122-104009123	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573613106	chr14:104009123-104009124	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs545693365	chr14:104009139-104009140	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs35494893	chr14:104009152-104009153	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs34288716	chr14:104009163-104009164	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs4900581	chr14:104009183-104009184	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs565383980	chr14:104009199-104009200	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs557057675	chr14:104009223-104009224	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs543978385	chr14:104009236-104009237	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs560989854	chr14:104009258-104009259	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs529659134	chr14:104009283-104009284	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs546226761	chr14:104009354-104009355	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs566110919	chr14:104009355-104009356	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs115231312	chr14:104009376-104009377	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs552438165	chr14:104009380-104009381	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs34834802	chr14:104009399-104009400	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs139936458	chr14:104009401-104009402	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs537999014	chr14:104009418-104009419	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs113275333	chr14:104009444-104009445	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs144793750	chr14:104009456-104009457	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs557196286	chr14:104009498-104009499	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs567728190	chr14:104009501-104009502	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs536726924	chr14:104009521-104009522	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs553430441	chr14:104009564-104009565	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs573269336	chr14:104009565-104009566	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs545416376	chr14:104009614-104009615	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs72390778	chr14:104009620-104009621	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs373001001	chr14:104009630-104009631	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs35091202	chr14:104009653-104009654	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs149850862	chr14:104009658-104009659	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs539462918	chr14:104009728-104009729	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs561311739	chr14:104009755-104009756	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs11625044	chr14:104009760-104009761	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs374390344	chr14:104009791-104009792	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs569540219	chr14:104009806-104009807	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs112720943	chr14:104009840-104009841	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs188206030	chr14:104009863-104009864	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs192278247	chr14:104009879-104009880	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:103997600-104013000	Weak transcription	K562	blood
3	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:104002400-104009800	Weak transcription	Liver	Liver
6	chr14:104002400-104013000	Weak transcription	Dnd41	blood
7	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:104003000-104008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:104003200-104010600	Enhancers	NHDF-Ad	bronchial
11	chr14:104003400-104010000	Weak transcription	Spleen	Spleen
12	chr14:104003800-104009000	Enhancers	Fetal Muscle Leg	muscle
13	chr14:104004000-104008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:104004200-104011400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:104004400-104011400	Enhancers	Right Ventricle	heart
16	chr14:104004600-104011400	Enhancers	Adipose Nuclei	Adipose
17	chr14:104004600-104013600	Enhancers	Brain Angular Gyrus	brain
18	chr14:104004800-104008800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:104004800-104010000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:104005000-104008800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:104005000-104008800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:104005400-104009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:104005400-104011400	Enhancers	Ovary	ovary
24	chr14:104005800-104009000	Weak transcription	Psoas Muscle	Psoas
25	chr14:104005800-104011400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:104006000-104010000	Enhancers	Placenta	Placenta
27	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
28	chr14:104006200-104008800	Enhancers	Fetal Stomach	stomach
29	chr14:104006400-104009600	Flanking Active TSS	HSMM	muscle
30	chr14:104006400-104010000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr14:104006400-104010600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:104006800-104008800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:104006800-104008800	Bivalent Enhancer	HepG2	liver
34	chr14:104006800-104009800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:104006800-104011200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:104006800-104011200	Enhancers	Esophagus	oesophagus
37	chr14:104006800-104011400	Enhancers	Fetal Intestine Large	intestine
38	chr14:104006800-104011800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr14:104007000-104008800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:104007000-104009800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:104007000-104010000	Enhancers	NHLF	lung
42	chr14:104007000-104011200	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:104007000-104011400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:104007000-104011400	Enhancers	Lung	lung
45	chr14:104007200-104010000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:104007200-104011000	Enhancers	NH-A	brain
47	chr14:104007200-104011400	Enhancers	Fetal Lung	lung
48	chr14:104007200-104011600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr14:104007200-104014800	Enhancers	Fetal Brain Male	brain
50	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney

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