Variant report

Variant	esv1822602
Chromosome Location	chr14:65734656-65742616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:65734705-65734835	K562	blood:	n/a	n/a
2	CEBPB	chr14:65735352-65735614	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:65734642-65734922	K562	blood:	n/a	n/a
4	CEBPB	chr14:65734678-65734975	K562	blood:	n/a	n/a
5	CTCF	chr14:65736820-65736970	GM12868	blood:	n/a	n/a
6	EP300	chr14:65734671-65734886	K562	blood:	n/a	n/a
7	FOXA2	chr14:65735397-65735575	HepG2	liver:	n/a	n/a
8	GATA1	chr14:65734548-65735050	PBDE	blood:	n/a	chr14:65734749-65734758 chr14:65734613-65734623 chr14:65734556-65734565 chr14:65734608-65734629
9	GATA2	chr14:65734656-65734921	K562	blood:	n/a	chr14:65734749-65734758
10	GATA3	chr14:65736338-65736934	MCF-7	breast:	n/a	n/a
11	MYC	chr14:65735440-65735680	NB4	blood:	n/a	n/a
12	NR2F2	chr14:65736377-65736963	MCF-7	breast:	n/a	chr14:65736793-65736808
13	POLR2A	chr14:65734693-65734849	K562	blood:	n/a	n/a
14	SPI1	chr14:65741880-65742093	GM12891	blood:	n/a	n/a
15	SPI1	chr14:65741861-65742068	GM12878	blood:	n/a	n/a
16	SPI1	chr14:65741817-65742159	GM12891	blood:	n/a	n/a
17	STAT3	chr14:65736010-65736171	MCF10A-Er-Src	breast:	n/a	n/a
18	TAL1	chr14:65734646-65734945	K562	blood:	n/a	n/a
19	TEAD4	chr14:65734551-65734922	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:65692548..65695388-chr14:65738784..65741190,2	MCF-7	breast:
2	chr14:65737240..65740930-chr14:65741747..65745215,4	MCF-7	breast:
3	chr14:65741854..65743522-chr14:65876408..65879302,2	MCF-7	breast:
4	chr14:65736547..65739578-chr14:65875184..65878257,3	MCF-7	breast:
5	chr14:65687978..65690881-chr14:65733392..65735746,2	MCF-7	breast:
6	chr14:65736947..65738937-chr14:65877471..65879576,2	MCF-7	breast:
7	chr14:65737240..65740930-chr14:65741747..65745215,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUT8-5	chr14:65735547-65735816	NONHSAT037381
2	lnc-MAX-3	chr14:65736163-65736230	ENSG00000258760.1

No data

Variant related genes	Relation type
ENSG00000214759	TF binding region
PTBP1P	TF binding region
RPL21P7	TF binding region
ENSG00000033170	chromatin interactions
ENSG00000255002	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548100145	chr14:65734687-65734688	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs567539927	chr14:65734703-65734704	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs1256512	chr14:65734705-65734706	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369247670	chr14:65734720-65734721	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556333649	chr14:65734738-65734739	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs35814690	chr14:65734758-65734759	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs144208607	chr14:65734796-65734797	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs200055390	chr14:65734799-65734800	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576617361	chr14:65734818-65734819	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs10438152	chr14:65734855-65734856	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560754999	chr14:65734861-65734862	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs1268665	chr14:65734871-65734872	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572297002	chr14:65734896-65734897	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552839129	chr14:65734914-65734915	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540951983	chr14:65734931-65734932	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183216338	chr14:65735004-65735005	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs565915163	chr14:65735009-65735010	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs187694834	chr14:65735025-65735026	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs566803117	chr14:65735030-65735031	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs34080877	chr14:65735034-65735035	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543408818	chr14:65735040-65735041	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs7147344	chr14:65735050-65735051	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532094467	chr14:65735121-65735122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545170999	chr14:65735133-65735134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1256513	chr14:65735135-65735136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527917131	chr14:65735143-65735144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1256514	chr14:65735196-65735197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567948476	chr14:65735209-65735210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550630219	chr14:65735313-65735314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529999548	chr14:65735342-65735343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1256515	chr14:65735357-65735358	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs570134951	chr14:65735376-65735377	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs539111754	chr14:65735430-65735431	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs77668270	chr14:65735432-65735433	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs2151756	chr14:65735437-65735438	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565870716	chr14:65735493-65735494	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs534865551	chr14:65735494-65735495	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554520886	chr14:65735498-65735499	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs137877719	chr14:65735503-65735504	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs543018458	chr14:65735507-65735508	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs367883036	chr14:65735524-65735525	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs1256516	chr14:65735539-65735540	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576459289	chr14:65735568-65735569	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs539058904	chr14:65735610-65735611	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs78888170	chr14:65735625-65735626	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs1256517	chr14:65735684-65735685	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs541619654	chr14:65735754-65735755	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs199884789	chr14:65735783-65735784	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs372690938	chr14:65735799-65735800	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs561386520	chr14:65735804-65735805	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65727200-65735000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:65727400-65749600	Weak transcription	Gastric	stomach
5	chr14:65731400-65735400	Weak transcription	GM12878-XiMat	blood
6	chr14:65733800-65735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:65733800-65742000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:65733800-65742200	Weak transcription	Brain Anterior Caudate	brain
9	chr14:65734200-65738600	Enhancers	Stomach Mucosa	stomach
10	chr14:65734400-65735000	Enhancers	Small Intestine	intestine
11	chr14:65734400-65736600	Enhancers	Pancreas	Pancrea
12	chr14:65734600-65735000	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:65734600-65735000	Enhancers	Brain Hippocampus Middle	brain
14	chr14:65734600-65735000	Enhancers	Fetal Intestine Small	intestine
15	chr14:65734600-65735400	Enhancers	K562	blood
16	chr14:65734600-65735800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:65734600-65736800	Enhancers	HepG2	liver
18	chr14:65734800-65735200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:65734800-65735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:65735000-65735200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:65735000-65735800	Weak transcription	Small Intestine	intestine
22	chr14:65735000-65736200	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:65735000-65736400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:65735000-65736600	Enhancers	Primary T cells from cord blood	blood
25	chr14:65735000-65736800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:65735000-65742400	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:65735200-65735800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:65735200-65735800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:65735400-65735800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:65735400-65735800	Enhancers	GM12878-XiMat	blood
31	chr14:65735400-65736000	Enhancers	Primary B cells from cord blood	blood
32	chr14:65735400-65736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:65735400-65736600	Enhancers	Fetal Thymus	thymus
34	chr14:65735400-65737000	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:65735800-65736600	Enhancers	Small Intestine	intestine
36	chr14:65735800-65748600	Weak transcription	GM12878-XiMat	blood
37	chr14:65736200-65748400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:65736400-65736600	Enhancers	Fetal Intestine Small	intestine
39	chr14:65736600-65736800	Weak transcription	Fetal Intestine Small	intestine
40	chr14:65736600-65737400	Weak transcription	Small Intestine	intestine
41	chr14:65736600-65738200	Weak transcription	Primary T cells from cord blood	blood
42	chr14:65737000-65743800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:65738200-65738400	Enhancers	Primary T cells from cord blood	blood
44	chr14:65738600-65744200	Weak transcription	Stomach Mucosa	stomach
45	chr14:65739600-65739800	Enhancers	Thymus	Thymus
46	chr14:65740800-65744200	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:65741000-65741600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:65741600-65746800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:65741800-65742400	Enhancers	Brain Angular Gyrus	brain
50	chr14:65742000-65745400	Enhancers	Brain Substantia Nigra	brain

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