Variant report

Variant	nsv977460
Chromosome Location	chr14:39684663-39690168
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39644203..39647101-chr14:39685504..39687288,2	MCF-7	breast:
2	chr14:39643409..39646477-chr14:39682252..39685201,4	MCF-7	breast:
3	chr14:39682657..39684941-chr14:39688892..39691527,2	MCF-7	breast:
4	chr14:39690148..39692016-chr14:39692891..39694587,2	MCF-7	breast:
5	chr14:39686963..39689820-chr14:39735016..39736647,2	K562	blood:
6	chr14:39687526..39690139-chr14:39695809..39697449,2	MCF-7	breast:
7	chr14:39642456..39648509-chr14:39688590..39693921,7	MCF-7	breast:
8	chr14:39637993..39640586-chr14:39685668..39689365,3	MCF-7	breast:
9	chr14:39653322..39655691-chr14:39686877..39688589,2	MCF-7	breast:
10	chr14:39687884..39690002-chr14:39715235..39717332,2	MCF-7	breast:
11	chr14:39638915..39642050-chr14:39686230..39689308,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182400	chromatin interactions
ENSG00000100941	chromatin interactions
ENSG00000150527	chromatin interactions
ENSG00000259083	chromatin interactions
ENSG00000270503	chromatin interactions
ENSG00000258941	chromatin interactions
ENSG00000258940	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115227288	chr14:39684664-39684665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562628171	chr14:39684721-39684722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531547245	chr14:39684789-39684790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545292095	chr14:39684820-39684821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190881991	chr14:39684847-39684848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs527618241	chr14:39684862-39684863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115537951	chr14:39684863-39684864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567191294	chr14:39684873-39684874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12894605	chr14:39684960-39684961	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529737935	chr14:39684977-39684978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373919419	chr14:39684981-39684982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs569073758	chr14:39685025-39685026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538070388	chr14:39685031-39685032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147452945	chr14:39685059-39685060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139899426	chr14:39685065-39685066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145445968	chr14:39685076-39685077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534604510	chr14:39685138-39685139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574087567	chr14:39685139-39685140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543105193	chr14:39685145-39685146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183451864	chr14:39685149-39685150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147283187	chr14:39685162-39685163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545202198	chr14:39685189-39685190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564968099	chr14:39685193-39685194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs527574811	chr14:39685196-39685197	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541015506	chr14:39685225-39685226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148444117	chr14:39685227-39685228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374523380	chr14:39685230-39685231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529655192	chr14:39685276-39685277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186689031	chr14:39685279-39685280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74393336	chr14:39685330-39685331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200431865	chr14:39685339-39685340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189974346	chr14:39685460-39685461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142616825	chr14:39685486-39685487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182942413	chr14:39685519-39685520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188441538	chr14:39685530-39685531	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548092612	chr14:39685538-39685539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7140164	chr14:39685539-39685540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs547786753	chr14:39685568-39685569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567632908	chr14:39685580-39685581	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185117701	chr14:39685621-39685622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs151002231	chr14:39685626-39685627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576595980	chr14:39685638-39685639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10483540	chr14:39685650-39685651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558714735	chr14:39685697-39685698	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs572152203	chr14:39685724-39685725	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570847066	chr14:39685747-39685748	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs139630360	chr14:39685829-39685830	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs143514505	chr14:39685855-39685856	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs574420456	chr14:39685862-39685863	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188433944	chr14:39685868-39685869	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39681600-39686600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:39681800-39686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:39681800-39686400	Weak transcription	HUVEC	blood vessel
5	chr14:39682000-39685200	Weak transcription	Hela-S3	cervix
6	chr14:39682000-39686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:39682000-39686400	Weak transcription	A549	lung
8	chr14:39682000-39686400	Weak transcription	HMEC	breast
9	chr14:39682000-39686400	Weak transcription	NHEK	skin
10	chr14:39685200-39687400	Enhancers	Hela-S3	cervix
11	chr14:39686400-39686600	Enhancers	K562	blood
12	chr14:39686400-39687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:39686400-39687200	Enhancers	A549	lung
14	chr14:39686400-39687400	Enhancers	HepG2	liver
15	chr14:39686400-39688400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:39686400-39688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:39686400-39688600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:39686400-39688600	Enhancers	Small Intestine	intestine
19	chr14:39686400-39688600	Enhancers	HMEC	breast
20	chr14:39686400-39688600	Enhancers	NHEK	skin
21	chr14:39686400-39688800	Enhancers	HUVEC	blood vessel
22	chr14:39686600-39686800	Enhancers	Right Atrium	heart
23	chr14:39686600-39687000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:39686600-39687000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:39686600-39687200	Weak transcription	K562	blood
26	chr14:39686600-39688200	Enhancers	Ovary	ovary
27	chr14:39686600-39688600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:39686600-39688600	Enhancers	Stomach Mucosa	stomach
29	chr14:39686800-39687400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr14:39686800-39687600	Enhancers	Gastric	stomach
31	chr14:39686800-39688400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:39686800-39688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:39686800-39688600	Enhancers	Fetal Intestine Large	intestine
34	chr14:39687000-39687200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:39687000-39687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:39687000-39687600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:39687200-39687600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:39687200-39687800	Flanking Active TSS	A549	lung
39	chr14:39687200-39688000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:39687200-39688000	Enhancers	K562	blood
41	chr14:39687200-39688600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:39687400-39687600	Enhancers	Right Atrium	heart
43	chr14:39687400-39687800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr14:39687400-39687800	Flanking Active TSS	Hela-S3	cervix
45	chr14:39687400-39687800	Enhancers	NHLF	lung
46	chr14:39687400-39688600	Enhancers	Fetal Intestine Small	intestine
47	chr14:39687400-39688600	Flanking Active TSS	HepG2	liver
48	chr14:39687400-39688600	Enhancers	NH-A	brain
49	chr14:39687600-39687800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr14:39687600-39687800	Enhancers	Osteobl	bone

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