Variant report

Variant	esv3431038
Chromosome Location	chr14:35475801-35478149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35473349..35476278-chr14:35514310..35517232,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151327	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573961898	chr14:35475887-35475888	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144766162	chr14:35475891-35475892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115644902	chr14:35476009-35476010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576283003	chr14:35476045-35476046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545306082	chr14:35476050-35476051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565468225	chr14:35476062-35476063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572597989	chr14:35476107-35476108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540303923	chr14:35476123-35476124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560026861	chr14:35476135-35476136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529016170	chr14:35476145-35476146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10133628	chr14:35476195-35476196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs562475469	chr14:35476280-35476281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531625077	chr14:35476367-35476368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546796007	chr14:35476415-35476416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371848688	chr14:35476443-35476444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530652850	chr14:35476480-35476481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374057335	chr14:35476551-35476552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368131211	chr14:35476558-35476559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145839503	chr14:35476569-35476570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371554598	chr14:35476617-35476618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28456062	chr14:35476673-35476674	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs571395107	chr14:35476678-35476679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181837583	chr14:35476695-35476696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555454254	chr14:35476714-35476715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371468688	chr14:35476766-35476767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113922325	chr14:35476795-35476796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569955600	chr14:35476806-35476807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs45563333	chr14:35476822-35476823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10146460	chr14:35476826-35476827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10146461	chr14:35476829-35476830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199980657	chr14:35476843-35476844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33969243	chr14:35476847-35476848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200152042	chr14:35476851-35476852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71121259	chr14:35476872-35476873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs45585733	chr14:35476873-35476874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10146541	chr14:35476880-35476881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537627699	chr14:35476886-35476887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143229762	chr14:35476894-35476895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs536348561	chr14:35476907-35476908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36159852	chr14:35476924-35476925	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs556099275	chr14:35476931-35476932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576069287	chr14:35476944-35476945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28705346	chr14:35476946-35476947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72474105	chr14:35476976-35476977	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150616962	chr14:35477011-35477012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71435842	chr14:35477012-35477013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138685607	chr14:35477013-35477014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201476426	chr14:35477015-35477016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559015987	chr14:35477034-35477035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572587639	chr14:35477104-35477105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
3	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:35454000-35479200	Weak transcription	Gastric	stomach
6	chr14:35454400-35481600	Weak transcription	HMEC	breast
7	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
8	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
9	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine
11	chr14:35454800-35484800	Weak transcription	Fetal Brain Male	brain
12	chr14:35455200-35477200	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:35455200-35482800	Weak transcription	A549	lung
14	chr14:35455200-35487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:35455600-35481600	Weak transcription	NHLF	lung
16	chr14:35456400-35483400	Weak transcription	Pancreas	Pancrea
17	chr14:35457000-35477200	Weak transcription	Hela-S3	cervix
18	chr14:35459400-35480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:35462800-35476000	Weak transcription	HUVEC	blood vessel
20	chr14:35464000-35477200	Weak transcription	Brain Anterior Caudate	brain
21	chr14:35464000-35478000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:35464000-35480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:35465200-35500600	Strong transcription	HepG2	liver
24	chr14:35465600-35482400	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:35465600-35500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:35465800-35489000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:35466000-35501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:35466200-35500600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr14:35466400-35498200	Weak transcription	Spleen	Spleen
31	chr14:35466600-35502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:35466800-35483600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:35466800-35502800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:35467000-35482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:35467000-35496600	Weak transcription	K562	blood
36	chr14:35467400-35482400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:35467400-35484800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:35467600-35478400	Weak transcription	Brain Germinal Matrix	brain
39	chr14:35467600-35503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:35467800-35480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:35468400-35480400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:35468600-35476200	Strong transcription	Placenta	Placenta
43	chr14:35468600-35493600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:35468600-35501600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:35469000-35488000	Weak transcription	Colonic Mucosa	Colon
46	chr14:35469400-35480600	Weak transcription	NHDF-Ad	bronchial
47	chr14:35469400-35484800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:35469600-35482600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:35469600-35482800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:35469600-35484600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links