Variant report

Variant	nsv528657
Chromosome Location	chr14:66991167-67024964
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:
2	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
3	chr14:66974103..66976751-chr14:66998338..67000349,2	MCF-7	breast:
4	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
5	chr14:67013560..67014177-chr16:87123245..87123883,2	MCF-7	breast:
6	chr14:66975009..66976777-chr14:67006452..67008690,2	MCF-7	breast:
7	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
8	chr14:66972704..66976384-chr14:67000982..67004211,4	MCF-7	breast:
9	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 1259 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12433426	chr14:66991167-66991168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375529761	chr14:66991255-66991256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369752754	chr14:66991282-66991283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570298280	chr14:66991313-66991314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539272594	chr14:66991321-66991322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569229954	chr14:66991326-66991327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558892942	chr14:66991339-66991340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117546748	chr14:66991367-66991368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535144244	chr14:66991409-66991410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181398050	chr14:66991422-66991423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574977186	chr14:66991443-66991444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377104879	chr14:66991460-66991461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557276679	chr14:66991483-66991484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28449547	chr14:66991495-66991496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546046725	chr14:66991496-66991497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28659174	chr14:66991539-66991540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs528301713	chr14:66991546-66991547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115299995	chr14:66991597-66991598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202157350	chr14:66991615-66991616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561484181	chr14:66991665-66991666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112916767	chr14:66991666-66991667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542023643	chr14:66991669-66991670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142730243	chr14:66991707-66991708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564067451	chr14:66991758-66991759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372612442	chr14:66991836-66991837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532709599	chr14:66991842-66991843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552874982	chr14:66991843-66991844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10149639	chr14:66991877-66991878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs10149642	chr14:66991888-66991889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs548797307	chr14:66991903-66991904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149762351	chr14:66991914-66991915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2649620	chr14:66992037-66992038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537512801	chr14:66992040-66992041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557094281	chr14:66992041-66992042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8022010	chr14:66992053-66992054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs148584085	chr14:66992084-66992085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556332473	chr14:66992124-66992125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186658990	chr14:66992127-66992128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572789402	chr14:66992130-66992131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541667446	chr14:66992143-66992144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143009921	chr14:66992165-66992166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575252288	chr14:66992175-66992176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56163493	chr14:66992178-66992179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190097818	chr14:66992185-66992186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563946448	chr14:66992244-66992245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532971860	chr14:66992247-66992248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546609633	chr14:66992328-66992329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560136349	chr14:66992357-66992358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140084504	chr14:66992372-66992373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548811403	chr14:66992436-66992437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66977600-66997200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:66990800-66993200	Weak transcription	Liver	Liver
3	chr14:66993200-66993800	Enhancers	Liver	Liver
4	chr14:66995400-66995600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:66995400-66996600	Weak transcription	Fetal Stomach	stomach
6	chr14:66995600-67003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:66996400-66997400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr14:66996400-66998000	Enhancers	Left Ventricle	heart
9	chr14:66996600-66997200	Strong transcription	Fetal Stomach	stomach
10	chr14:66996600-66997600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:66996800-66997600	Enhancers	Gastric	stomach
12	chr14:66996800-66997600	Enhancers	GM12878-XiMat	blood
13	chr14:66997000-66997400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:66997000-66997600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:66997000-66997600	Enhancers	Esophagus	oesophagus
16	chr14:66997000-66997600	Enhancers	Right Ventricle	heart
17	chr14:66997000-66997800	Enhancers	NHEK	skin
18	chr14:66997200-66997600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:66997200-66997600	Enhancers	Lung	lung
20	chr14:66997200-66997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:66997200-66998800	Weak transcription	Fetal Stomach	stomach
22	chr14:66997400-66997600	Enhancers	Spleen	Spleen
23	chr14:66997600-66997800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr14:66997600-66998800	Weak transcription	Gastric	stomach
25	chr14:66997800-66998400	Weak transcription	GM12878-XiMat	blood
26	chr14:66997800-67014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:66998000-67005800	Weak transcription	Left Ventricle	heart
28	chr14:66998000-67009600	Weak transcription	Psoas Muscle	Psoas
29	chr14:66998400-66998600	Enhancers	GM12878-XiMat	blood
30	chr14:66999000-66999200	Enhancers	Gastric	stomach
31	chr14:67002200-67002600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:67003600-67004000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:67004000-67005600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:67004400-67004600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:67004600-67004800	Enhancers	Right Atrium	heart
36	chr14:67004600-67005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:67004800-67006800	Weak transcription	Right Atrium	heart
38	chr14:67005000-67006200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr14:67005200-67005800	Weak transcription	Liver	Liver
40	chr14:67005200-67005800	Enhancers	Dnd41	blood
41	chr14:67005400-67006000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:67005400-67006200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:67005600-67006000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:67005600-67006000	Enhancers	GM12878-XiMat	blood
45	chr14:67005600-67006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:67005600-67006600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:67005600-67007000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:67005800-67006000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:67005800-67006000	Enhancers	Liver	Liver
50	chr14:67005800-67006200	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links