Variant report

Variant	esv3417715
Chromosome Location	chr14:35777153-35778214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr14:35777845-35778045	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr14:35777177-35777256	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35777000..35779255-chr14:35781790..35784953,3	K562	blood:
2	chr14:35778204..35779930-chr14:35870130..35871675,2	MCF-7	breast:

Variant related genes	Relation type
PSMA6	TF binding region
ENSG00000100902	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554466773	chr14:35777176-35777177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369396667	chr14:35777184-35777185	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373703930	chr14:35777185-35777186	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140882372	chr14:35777201-35777202	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs56242901	chr14:35777213-35777214	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149756603	chr14:35777256-35777257	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370118466	chr14:35777267-35777268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201168343	chr14:35777279-35777280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35714872	chr14:35777284-35777285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74962578	chr14:35777311-35777312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188681284	chr14:35777332-35777333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs8012896	chr14:35777358-35777359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192161979	chr14:35777375-35777376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532631534	chr14:35777434-35777435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148428798	chr14:35777435-35777436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559555891	chr14:35777488-35777489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528676876	chr14:35777497-35777498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10134308	chr14:35777531-35777532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567309837	chr14:35777554-35777555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568051176	chr14:35777635-35777636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201102710	chr14:35777638-35777639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370069724	chr14:35777640-35777641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549771477	chr14:35777667-35777668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569988978	chr14:35777733-35777734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188497269	chr14:35777750-35777751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs17103181	chr14:35777754-35777755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565920601	chr14:35777778-35777779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534810244	chr14:35777814-35777815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192712301	chr14:35777817-35777818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183973922	chr14:35777831-35777832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543468168	chr14:35777913-35777914	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556907207	chr14:35777931-35777932	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576812736	chr14:35777937-35777938	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs77769830	chr14:35777987-35777988	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114177166	chr14:35778033-35778034	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528681991	chr14:35778050-35778051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542371760	chr14:35778079-35778080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200415944	chr14:35778087-35778088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566056077	chr14:35778088-35778089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375360605	chr14:35778100-35778101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377043068	chr14:35778105-35778106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186794633	chr14:35778110-35778111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532133096	chr14:35778114-35778115	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374427360	chr14:35778128-35778129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367634774	chr14:35778129-35778130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs61742040	chr14:35778133-35778134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145545043	chr14:35778191-35778192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370698772	chr14:35778213-35778214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	20164920	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
4	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
6	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:35763800-35777200	Weak transcription	Placenta	Placenta
9	chr14:35763800-35777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:35763800-35777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:35763800-35777800	Weak transcription	HSMM	muscle
12	chr14:35763800-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:35763800-35778600	Weak transcription	Colonic Mucosa	Colon
14	chr14:35763800-35778600	Weak transcription	Esophagus	oesophagus
15	chr14:35763800-35778600	Weak transcription	Ovary	ovary
16	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:35764000-35778200	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:35764000-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:35764000-35779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:35764200-35777200	Weak transcription	Osteobl	bone
21	chr14:35764200-35778200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:35764400-35777800	Weak transcription	NHLF	lung
23	chr14:35764600-35778600	Weak transcription	Brain Anterior Caudate	brain
24	chr14:35764600-35778600	Weak transcription	Brain Germinal Matrix	brain
25	chr14:35765200-35778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:35765200-35778800	Weak transcription	Brain Angular Gyrus	brain
27	chr14:35765200-35779800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:35765400-35778400	Weak transcription	Fetal Brain Female	brain
29	chr14:35765400-35778800	Weak transcription	Gastric	stomach
30	chr14:35765400-35779400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:35765400-35782400	Weak transcription	K562	blood
32	chr14:35765800-35778600	Weak transcription	Lung	lung
33	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:35766400-35777400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:35766400-35777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:35767200-35779600	Weak transcription	Brain Substantia Nigra	brain
37	chr14:35769200-35778200	Weak transcription	NH-A	brain
38	chr14:35769200-35780600	Weak transcription	NHDF-Ad	bronchial
39	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:35769400-35777600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:35769400-35778600	Weak transcription	HMEC	breast
42	chr14:35769600-35777200	Weak transcription	HUVEC	blood vessel
43	chr14:35769600-35777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:35769600-35777800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:35769800-35778600	Weak transcription	Spleen	Spleen
46	chr14:35770000-35777400	Weak transcription	Adipose Nuclei	Adipose
47	chr14:35770200-35777200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:35770200-35777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:35770200-35777800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:35770200-35779400	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links