Variant report

Variant	esv3415751
Chromosome Location	chr14:81686258-81686611
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:77)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:81685741..81687276-chr8:145581156..145583712,2	MCF-7	breast:
2	chr11:62622533..62623505-chr14:81686516..81687301,2	Hela-S3	cervix:
3	chr14:81627657..81630242-chr14:81684338..81686999,2	MCF-7	breast:
4	chr14:81685988..81686780-chr17:57919627..57920209,2	Hela-S3	cervix:
5	chr14:81684734..81687566-chr14:81785566..81790169,4	MCF-7	breast:
6	chr14:81685634..81687165-chr3:161089458..161091506,2	MCF-7	breast:
7	chr14:81686251..81687140-chr17:48277195..48277771,2	Hela-S3	cervix:
8	chr14:81685770..81687296-chr14:81799417..81802268,2	K562	blood:
9	chr14:81684527..81687237-chr9:91145457..91147469,2	MCF-7	breast:
10	chr14:81685585..81686306-chr15:91140987..91141852,2	Hela-S3	cervix:
11	chr14:81684768..81687398-chr14:81789719..81791458,3	MCF-7	breast:
12	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
13	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:
14	chr1:17230734..17232563-chr14:81684596..81686685,2	MCF-7	breast:
15	chr14:81685898..81688626-chr14:81711867..81715225,3	K562	blood:
16	chr14:81685793..81687802-chr17:56735129..56737547,2	MCF-7	breast:
17	chr14:81684940..81687366-chr6:99962476..99964757,2	MCF-7	breast:
18	chr14:81684559..81686962-chr14:81944393..81946438,2	MCF-7	breast:
19	chr14:81684973..81687245-chr14:81740036..81742167,2	K562	blood:
20	chr14:81685512..81688404-chr14:81891914..81896329,4	MCF-7	breast:
21	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
22	chr1:155293665..155294460-chr14:81685420..81686301,3	Hela-S3	cervix:
23	chr14:81684944..81686707-chr14:81908977..81911709,2	MCF-7	breast:
24	chr14:81635464..81638481-chr14:81684307..81689009,9	K562	blood:
25	chr14:81685756..81686412-chr19:33462858..33463500,2	Hela-S3	cervix:
26	chr1:16840577..16841089-chr14:81685706..81686413,2	HCT-116	colon:
27	chr14:81684496..81687014-chr14:81780787..81782724,4	MCF-7	breast:
28	chr14:69863611..69866530-chr14:81685832..81688549,2	K562	blood:
29	chr14:81685801..81687372-chr2:20250284..20251948,2	MCF-7	breast:
30	chr14:81685803..81688081-chr17:62223378..62225189,2	MCF-7	breast:
31	chr14:81685904..81686476-chr5:119526721..119527705,2	NB4	blood:
32	chr14:81684503..81687134-chr14:81866673..81870053,4	K562	blood:
33	chr14:81421307..81423560-chr14:81685821..81687772,2	MCF-7	breast:
34	chr14:81479552..81481692-chr14:81684705..81687037,3	K562	blood:
35	chr1:8023003..8023647-chr14:81686473..81687197,2	Hela-S3	cervix:
36	chr14:81684632..81686408-chr6:42713081..42715473,2	MCF-7	breast:
37	chr14:81685817..81687748-chr20:55839278..55841337,2	MCF-7	breast:
38	chr14:81686253..81687185-chr16:75498098..75498659,2	Hela-S3	cervix:
39	chr14:81456409..81459092-chr14:81684225..81686871,2	MCF-7	breast:
40	chr11:93517183..93517885-chr14:81686483..81687120,2	NB4	blood:
41	chr14:81684220..81688666-chr14:81897892..81904337,14	K562	blood:
42	chr14:81685913..81687498-chr14:81724486..81727232,2	K562	blood:
43	chr14:81684792..81690788-chr14:81724993..81730571,6	K562	blood:
44	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:
45	chr14:81686218..81688258-chr14:81998585..82000595,3	MCF-7	breast:
46	chr14:81685671..81687321-chr14:81879290..81881702,3	MCF-7	breast:
47	chr14:81685465..81686386-chr19:14016942..14017531,2	Hela-S3	cervix:
48	chr14:81684235..81687113-chr14:81978214..81980524,2	MCF-7	breast:
49	chr14:81316288..81318355-chr14:81684357..81686706,2	K562	blood:
50	chr14:81684366..81687032-chr14:81998471..82002054,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199753	chromatin interactions
ENSG00000166822	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000178741	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000123552	chromatin interactions
ENSG00000132016	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000270343	chromatin interactions
ENSG00000029364	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000242163	chromatin interactions
ENSG00000042429	chromatin interactions
ENSG00000132024	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000182325	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000205579	chromatin interactions
ENSG00000140022	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000121289	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000221303	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000131944	chromatin interactions
ENSG00000122643	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000185803	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000071537	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000165409	chromatin interactions
ENSG00000108821	chromatin interactions
ENSG00000258999	chromatin interactions
ENSG00000258675	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000100629	chromatin interactions
ENSG00000258605	chromatin interactions
ENSG00000059588	chromatin interactions
ENSG00000100632	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000140577	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000223734	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575205892	chr14:81686261-81686262	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
2	rs10149681	chr14:81686319-81686320	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	39 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs367888610	chr14:81686331-81686332	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
4	rs528406449	chr14:81686366-81686367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
5	rs61980900	chr14:81686436-81686437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561565281	chr14:81686491-81686492	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
7	rs529321971	chr14:81686493-81686494	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
8	rs550661335	chr14:81686528-81686529	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
9	rs376288328	chr14:81686581-81686582	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
10	rs189178521	chr14:81686608-81686609	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81684000-81688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:81684200-81689200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:81684400-81687800	Active TSS	Thymus	Thymus
4	chr14:81684400-81687800	Active TSS	K562	blood
5	chr14:81684600-81688000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:81684600-81688000	Active TSS	HSMMtube	muscle
7	chr14:81684600-81688000	Active TSS	NHLF	lung
8	chr14:81684600-81688200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:81684600-81688400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81684800-81687800	Active TSS	GM12878-XiMat	blood
11	chr14:81684800-81688000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:81684800-81688000	Active TSS	Fetal Brain Female	brain
13	chr14:81684800-81688200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr14:81684800-81688200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:81684800-81688200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:81684800-81688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:81684800-81688600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:81685000-81687000	Active TSS	Right Atrium	heart
19	chr14:81685000-81687600	Active TSS	HMEC	breast
20	chr14:81685000-81687800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:81685000-81687800	Active TSS	Fetal Thymus	thymus
22	chr14:81685000-81687800	Active TSS	NHDF-Ad	bronchial
23	chr14:81685000-81688000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:81685000-81688000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:81685000-81688000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:81685000-81688000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:81685000-81688000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81685000-81688000	Active TSS	Brain Germinal Matrix	brain
29	chr14:81685000-81688000	Active TSS	Fetal Intestine Large	intestine
30	chr14:81685000-81688000	Active TSS	Fetal Kidney	kidney
31	chr14:81685000-81688000	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr14:81685000-81688000	Active TSS	Stomach Smooth Muscle	stomach
33	chr14:81685000-81688200	Active TSS	Brain Anterior Caudate	brain
34	chr14:81685000-81688200	Active TSS	Fetal Stomach	stomach
35	chr14:81685000-81688400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:81685000-81688400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:81685200-81687800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:81685200-81687800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr14:81685200-81687800	Active TSS	Hela-S3	cervix
40	chr14:81685200-81688000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:81685200-81688000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:81685200-81688000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:81685200-81688000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:81685200-81688000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:81685200-81688000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:81685200-81688000	Active TSS	Fetal Brain Male	brain
47	chr14:81685200-81688000	Active TSS	Fetal Heart	heart
48	chr14:81685200-81688000	Active TSS	Fetal Intestine Small	intestine
49	chr14:81685200-81688000	Active TSS	Fetal Muscle Leg	muscle
50	chr14:81685200-81688000	Active TSS	Skeletal Muscle Male	skeletal muscle

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