Variant report

Variant	nsv511544
Chromosome Location	chr14:105269779-105277209
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
2	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
3	chr14:105276873..105279342-chr14:105282954..105284515,2	K562	blood:
4	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
5	chr14:105271965..105273558-chr6:154674183..154677149,2	MCF-7	breast:
6	chr14:105216947..105220630-chr14:105265563..105270028,6	MCF-7	breast:
7	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
8	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
9	chr14:105155908..105158880-chr14:105275037..105277471,2	MCF-7	breast:
10	chr14:105270335..105272175-chr14:105398279..105400751,2	K562	blood:
11	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
12	chr14:105268465..105270651-chr14:105635461..105637238,2	K562	blood:
13	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
14	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
15	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
16	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
17	chr14:105272219..105273865-chr9:134838230..134839731,2	MCF-7	breast:
18	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
19	chr14:105269866..105272402-chr8:125485710..125488000,2	MCF-7	breast:
20	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:
21	chr14:105275614..105278023-chr17:32632159..32633680,2	MCF-7	breast:
22	chr14:105267306..105268128-chr14:105276242..105277034,2	MCF-7	breast:
23	chr14:105269496..105271727-chr14:105330023..105331660,2	MCF-7	breast:
24	chr14:105201310..105203058-chr14:105268966..105270769,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185100	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000258858	chromatin interactions
ENSG00000203485	chromatin interactions

Extended variants
information (count: 339 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3803300	chr14:105269779-105269780	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543887083	chr14:105269839-105269840	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527340310	chr14:105269857-105269858	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371099468	chr14:105269879-105269880	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs184290839	chr14:105269889-105269890	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs542794662	chr14:105269904-105269905	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs535664435	chr14:105269905-105269906	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs372625204	chr14:105269932-105269933	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs528668709	chr14:105270026-105270027	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs12100513	chr14:105270030-105270031	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs565255357	chr14:105270059-105270060	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189758977	chr14:105270129-105270130	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs550732200	chr14:105270189-105270190	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs567528435	chr14:105270191-105270192	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112957632	chr14:105270213-105270214	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs192995140	chr14:105270252-105270253	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs566630807	chr14:105270272-105270273	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs117658102	chr14:105270280-105270281	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs558594349	chr14:105270292-105270293	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs568875879	chr14:105270387-105270388	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs376253361	chr14:105270388-105270389	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs554298080	chr14:105270444-105270445	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs12432615	chr14:105270456-105270457	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542870517	chr14:105270477-105270478	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs201207791	chr14:105270481-105270482	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs35721922	chr14:105270483-105270484	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs376727210	chr14:105270484-105270485	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs67749358	chr14:105270485-105270486	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs67231197	chr14:105270486-105270487	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs148920199	chr14:105270495-105270496	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs113254217	chr14:105270508-105270509	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs71129250	chr14:105270511-105270512	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs140954212	chr14:105270512-105270513	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs145220738	chr14:105270516-105270517	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs565755585	chr14:105270523-105270524	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs115813459	chr14:105270524-105270525	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs112926467	chr14:105270554-105270555	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs573072432	chr14:105270555-105270556	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs138528163	chr14:105270577-105270578	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs569552817	chr14:105270579-105270580	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs371860576	chr14:105270602-105270603	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs544591017	chr14:105270609-105270610	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs563273353	chr14:105270624-105270625	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs141147723	chr14:105270728-105270729	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs530126887	chr14:105270729-105270730	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs546870456	chr14:105270767-105270768	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs185237454	chr14:105270779-105270780	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs150703754	chr14:105270788-105270789	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs552124159	chr14:105270856-105270857	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs552186875	chr14:105270861-105270862	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Breast cancer	22522925	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105267400-105270000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:105268000-105270000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:105268000-105270200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:105268000-105270200	Enhancers	Fetal Lung	lung
5	chr14:105268000-105270400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:105268000-105271000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:105268000-105271200	Weak transcription	HSMM	muscle
8	chr14:105268000-105271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:105268000-105271600	Weak transcription	HSMMtube	muscle
10	chr14:105268000-105273000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:105268000-105280400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:105268000-105281000	Weak transcription	Brain Substantia Nigra	brain
13	chr14:105268200-105269800	Enhancers	Adipose Nuclei	Adipose
14	chr14:105268200-105269800	Enhancers	Stomach Mucosa	stomach
15	chr14:105268200-105270000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:105268200-105270000	Enhancers	Psoas Muscle	Psoas
17	chr14:105268200-105270000	Weak transcription	A549	lung
18	chr14:105268200-105270200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:105268200-105270200	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:105268200-105270400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:105268200-105271000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr14:105268200-105271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:105268200-105271400	Weak transcription	NH-A	brain
24	chr14:105268200-105271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:105268200-105271600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:105268200-105271600	Weak transcription	NHDF-Ad	bronchial
27	chr14:105268200-105272400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:105268200-105272800	Enhancers	Fetal Muscle Leg	muscle
29	chr14:105268200-105273000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:105268400-105269800	Genic enhancers	Right Ventricle	heart
31	chr14:105268400-105269800	Weak transcription	K562	blood
32	chr14:105268400-105270400	Genic enhancers	Fetal Intestine Small	intestine
33	chr14:105268400-105271800	Weak transcription	Right Atrium	heart
34	chr14:105268400-105272000	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:105268400-105273200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
37	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:105268600-105270000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr14:105268600-105270000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105268600-105270000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:105268600-105270800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:105268600-105271400	Weak transcription	NHLF	lung
43	chr14:105268600-105271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:105268600-105271600	Enhancers	Spleen	Spleen
45	chr14:105268600-105272800	Enhancers	Gastric	stomach
46	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:105268800-105270000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:105268800-105270000	Enhancers	Esophagus	oesophagus
50	chr14:105268800-105270400	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links