Variant report

Variant	nsv566075
Chromosome Location	chr14:105270554-105274763
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
2	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
3	chr14:105271965..105273558-chr6:154674183..154677149,2	MCF-7	breast:
4	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
5	chr14:105269496..105271727-chr14:105330023..105331660,2	MCF-7	breast:
6	chr14:105270335..105272175-chr14:105398279..105400751,2	K562	blood:
7	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:
8	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
9	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
10	chr14:105201310..105203058-chr14:105268966..105270769,2	MCF-7	breast:
11	chr14:105272219..105273865-chr9:134838230..134839731,2	MCF-7	breast:
12	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
13	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
14	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
15	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
16	chr14:105268465..105270651-chr14:105635461..105637238,2	K562	blood:
17	chr14:105269866..105272402-chr8:125485710..125488000,2	MCF-7	breast:
18	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184990	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs112926467	chr14:105270554-105270555	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs573072432	chr14:105270555-105270556	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs138528163	chr14:105270577-105270578	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs569552817	chr14:105270579-105270580	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs371860576	chr14:105270602-105270603	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs544591017	chr14:105270609-105270610	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs563273353	chr14:105270624-105270625	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs141147723	chr14:105270728-105270729	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs530126887	chr14:105270729-105270730	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs546870456	chr14:105270767-105270768	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs185237454	chr14:105270779-105270780	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs150703754	chr14:105270788-105270789	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs552124159	chr14:105270856-105270857	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs552186875	chr14:105270861-105270862	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs568913850	chr14:105270874-105270875	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs3803299	chr14:105270893-105270894	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs534452577	chr14:105270939-105270940	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs370362321	chr14:105270957-105270958	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs189820960	chr14:105270961-105270962	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs567670112	chr14:105271037-105271038	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs35156010	chr14:105271039-105271040	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs144799623	chr14:105271051-105271052	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs553215119	chr14:105271103-105271104	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs181878334	chr14:105271121-105271122	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs374073684	chr14:105271123-105271124	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs34755105	chr14:105271145-105271146	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs398026492	chr14:105271146-105271147	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs184606341	chr14:105271175-105271176	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs575683067	chr14:105271188-105271189	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs557190634	chr14:105271224-105271225	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs544339033	chr14:105271231-105271232	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs367676954	chr14:105271232-105271233	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs140048983	chr14:105271254-105271255	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs35047726	chr14:105271289-105271290	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs72715988	chr14:105271352-105271353	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs145458804	chr14:105271422-105271423	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs532478504	chr14:105271429-105271430	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs552348346	chr14:105271448-105271449	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs562585812	chr14:105271505-105271506	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs111943524	chr14:105271522-105271523	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs547946363	chr14:105271595-105271596	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs567829616	chr14:105271608-105271609	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs533526982	chr14:105271642-105271643	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs368056530	chr14:105271647-105271648	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs566819516	chr14:105271710-105271711	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs147681608	chr14:105271719-105271720	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs543705817	chr14:105271726-105271727	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs557302001	chr14:105271731-105271732	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs180790600	chr14:105271770-105271771	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs71454480	chr14:105271789-105271790	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105268000-105271000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:105268000-105271200	Weak transcription	HSMM	muscle
3	chr14:105268000-105271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:105268000-105271600	Weak transcription	HSMMtube	muscle
5	chr14:105268000-105273000	Weak transcription	Brain Anterior Caudate	brain
6	chr14:105268000-105280400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:105268000-105281000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:105268200-105271000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr14:105268200-105271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:105268200-105271400	Weak transcription	NH-A	brain
11	chr14:105268200-105271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:105268200-105271600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:105268200-105271600	Weak transcription	NHDF-Ad	bronchial
14	chr14:105268200-105272400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:105268200-105272800	Enhancers	Fetal Muscle Leg	muscle
16	chr14:105268200-105273000	Weak transcription	Brain Angular Gyrus	brain
17	chr14:105268400-105271800	Weak transcription	Right Atrium	heart
18	chr14:105268400-105272000	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:105268400-105273200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
21	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:105268600-105270800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:105268600-105271400	Weak transcription	NHLF	lung
24	chr14:105268600-105271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:105268600-105271600	Enhancers	Spleen	Spleen
26	chr14:105268600-105272800	Enhancers	Gastric	stomach
27	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:105268800-105271600	Weak transcription	Ovary	ovary
30	chr14:105268800-105281000	Weak transcription	Primary T cells from cord blood	blood
31	chr14:105269000-105270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:105269000-105271200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:105269000-105271400	Weak transcription	Hela-S3	cervix
34	chr14:105269000-105273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:105269000-105279800	Weak transcription	Brain Germinal Matrix	brain
36	chr14:105269000-105280400	Weak transcription	GM12878-XiMat	blood
37	chr14:105269200-105270800	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:105269200-105270800	Genic enhancers	Fetal Stomach	stomach
39	chr14:105269200-105271200	Weak transcription	Lung	lung
40	chr14:105269200-105271200	Weak transcription	HepG2	liver
41	chr14:105269200-105271400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:105269200-105271800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:105269200-105272000	Enhancers	Fetal Muscle Trunk	muscle
44	chr14:105269200-105272600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:105269200-105272600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:105269200-105272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:105269200-105280800	Weak transcription	Fetal Intestine Large	intestine
48	chr14:105269400-105273200	Enhancers	Pancreas	Pancrea
49	chr14:105269600-105271600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:105269800-105271000	Enhancers	Primary B cells from peripheral blood	blood

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