Variant report

Variant	esv3530977
Chromosome Location	chr14:35603901-35612999
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
2	chr14:35591208..35595473-chr14:35600554..35604133,4	K562	blood:
3	chr14:35610009..35610550-chr14:36156270..36157192,2	K562	blood:
4	chr14:35603102..35605461-chr14:35881286..35882903,2	MCF-7	breast:
5	chr14:35607146..35612253-chr14:35870483..35876264,6	MCF-7	breast:
6	chr14:35609923..35610592-chr14:35882131..35883118,2	K562	blood:
7	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
8	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
9	chr14:35610882..35612765-chr14:35874078..35876845,2	MCF-7	breast:
10	chr14:35593860..35596443-chr14:35605517..35607732,2	MCF-7	breast:
11	chr14:35590804..35592605-chr14:35605460..35607939,2	K562	blood:
12	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
13	chr14:35604150..35607008-chr14:35873146..35874686,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100906	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000258790	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:316 , 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	rs149796939	chr14:35603917-35603918	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs567423385	chr14:35603948-35603949	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs144746751	chr14:35603995-35603996	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555901533	chr14:35604042-35604043	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs569820227	chr14:35604052-35604053	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs538795333	chr14:35604073-35604074	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558774468	chr14:35604144-35604145	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572437642	chr14:35604152-35604153	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531947225	chr14:35604158-35604159	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148503363	chr14:35604176-35604177	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185183659	chr14:35604222-35604223	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574996797	chr14:35604226-35604227	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76135586	chr14:35604265-35604266	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571641496	chr14:35604286-35604287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142759670	chr14:35604309-35604310	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559863757	chr14:35604330-35604331	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4494460	chr14:35604350-35604351	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs375170277	chr14:35604359-35604360	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189651498	chr14:35604366-35604367	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564811213	chr14:35604417-35604418	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183423072	chr14:35604422-35604423	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79586528	chr14:35604494-35604495	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs731906	chr14:35604543-35604544	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547047339	chr14:35604608-35604609	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370133782	chr14:35604769-35604770	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567563037	chr14:35604775-35604776	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187167379	chr14:35604841-35604842	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549663086	chr14:35604860-35604861	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569557360	chr14:35604871-35604872	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555765283	chr14:35604886-35604887	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2010648	chr14:35604892-35604893	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs559039322	chr14:35604920-35604921	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566011715	chr14:35604925-35604926	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs8011195	chr14:35604936-35604937	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554625140	chr14:35604972-35604973	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201087392	chr14:35604977-35604978	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1807161	chr14:35604985-35604986	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs191889436	chr14:35604993-35604994	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557677039	chr14:35605016-35605017	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577544946	chr14:35605032-35605033	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546056129	chr14:35605033-35605034	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183260320	chr14:35605073-35605074	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143910369	chr14:35605082-35605083	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541027105	chr14:35605096-35605097	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560771699	chr14:35605112-35605113	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs35207805	chr14:35605141-35605142	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529632602	chr14:35605143-35605144	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561427797	chr14:35605163-35605164	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112374315	chr14:35605164-35605165	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1807162	chr14:35605196-35605197	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35592600-35625200	Weak transcription	Small Intestine	intestine
2	chr14:35592800-35611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:35593000-35605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:35593000-35610200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:35593000-35613400	Weak transcription	Stomach Mucosa	stomach
6	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
7	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:35593200-35604000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:35593200-35625200	Weak transcription	NH-A	brain
10	chr14:35593200-35625600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:35593200-35627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:35593200-35635400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:35593400-35613200	Weak transcription	Osteobl	bone
14	chr14:35593400-35617200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:35594000-35615800	Weak transcription	HUVEC	blood vessel
16	chr14:35594400-35629000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:35594600-35604000	Weak transcription	Hela-S3	cervix
18	chr14:35594600-35609600	Weak transcription	Colonic Mucosa	Colon
19	chr14:35595200-35613200	Weak transcription	K562	blood
20	chr14:35596000-35623600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:35596200-35604800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:35597200-35605400	Weak transcription	NHDF-Ad	bronchial
23	chr14:35597400-35625000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:35597600-35625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:35597800-35615400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:35598000-35609800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:35599400-35607200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:35599600-35604200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:35600000-35604400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:35600200-35605400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:35600400-35605600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:35601400-35604200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:35601400-35605400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:35601400-35606000	Strong transcription	Thymus	Thymus
35	chr14:35601400-35607600	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:35601400-35609200	Strong transcription	Fetal Thymus	thymus
37	chr14:35601600-35604000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:35601600-35604400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr14:35601600-35605600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:35601600-35607400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:35601600-35609600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:35601800-35604200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:35601800-35604400	Strong transcription	A549	lung
44	chr14:35601800-35604800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:35601800-35604800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:35602000-35604200	Strong transcription	Primary B cells from cord blood	blood
47	chr14:35602000-35604200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:35602000-35604600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:35602000-35606600	Strong transcription	Primary T cells from cord blood	blood
50	chr14:35602000-35609600	Strong transcription	Rectal Mucosa Donor 29	rectum

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