Variant report

Variant	nsv976347
Chromosome Location	chr14:65929311-65939441
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	ATF2	chr14:65937704-65938209	GM12878	blood:	n/a	n/a
2	ATF2	chr14:65928634-65929643	GM12878	blood:	n/a	n/a
3	ATF2	chr14:65928406-65929761	GM12878	blood:	n/a	n/a
4	BATF	chr14:65928923-65929564	GM12878	blood:	n/a	n/a
5	BATF	chr14:65937756-65938044	GM12878	blood:	n/a	n/a
6	BATF	chr14:65929039-65929495	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:65928998-65929538	GM12878	blood:	n/a	n/a
8	BCL3	chr14:65937726-65938124	GM12878	blood:	n/a	n/a
9	BCL3	chr14:65928950-65929555	GM12878	blood:	n/a	n/a
10	BCLAF1	chr14:65928969-65929620	GM12878	blood:	n/a	n/a
11	BCLAF1	chr14:65937754-65938167	GM12878	blood:	n/a	n/a
12	BCLAF1	chr14:65928811-65929631	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:65935537-65935548	K562	blood:	n/a	n/a
14	BHLHE40	chr14:65928525-65929588	GM12878	blood:	n/a	n/a
15	CEBPB	chr14:65937923-65938002	K562	blood:	n/a	n/a
16	CEBPB	chr14:65928826-65929763	GM12878	blood:	n/a	n/a
17	CHD2	chr14:65928660-65929608	GM12878	blood:	n/a	n/a
18	CREB1	chr14:65928968-65929740	GM12878	blood:	n/a	n/a
19	CTCF	chr14:65929220-65929370	GM12872	blood:	n/a	n/a
20	CTCF	chr14:65936124-65936157	GM13976	blood:	n/a	n/a
21	CUX1	chr14:65928532-65929696	GM12878	blood:	n/a	chr14:65929515-65929529
22	EBF1	chr14:65937262-65937686	GM12878	blood:	n/a	n/a
23	EBF1	chr14:65937750-65938137	GM12878	blood:	n/a	n/a
24	EBF1	chr14:65937829-65938108	GM12878	blood:	n/a	n/a
25	EBF1	chr14:65929334-65929525	GM12878	blood:	n/a	n/a
26	EBF1	chr14:65928923-65929611	GM12878	blood:	n/a	n/a
27	ELF1	chr14:65936615-65937135	GM12878	blood:	n/a	n/a
28	ELF1	chr14:65937174-65937681	GM12878	blood:	n/a	n/a
29	EP300	chr14:65928639-65929604	GM12878	blood:	n/a	chr14:65929011-65929021
30	EP300	chr14:65937484-65937620	GM12878	blood:	n/a	chr14:65937507-65937523
31	EP300	chr14:65928588-65929598	GM12878	blood:	n/a	chr14:65929011-65929021
32	FOS	chr14:65929161-65929545	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr14:65929219-65929519	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr14:65939413-65939500	MCF10A-Er-Src	breast:	n/a	chr14:65939434-65939444 chr14:65939433-65939445 chr14:65939435-65939442 chr14:65939454-65939466 chr14:65939435-65939443 chr14:65939434-65939443
35	FOS	chr14:65929165-65929605	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr14:65929242-65929545	MCF10A-Er-Src	breast:	n/a	n/a
37	FOSL2	chr14:65929015-65929639	SK-N-SH	brain:	n/a	chr14:65929046-65929058 chr14:65929116-65929128
38	FOXA1	chr14:65934640-65934913	T-47D	breast:	n/a	n/a
39	FOXA2	chr14:65934665-65935103	A549	lung:	n/a	n/a
40	FOXM1	chr14:65937712-65938238	GM12878	blood:	n/a	n/a
41	FOXM1	chr14:65928875-65929597	GM12878	blood:	n/a	n/a
42	FOXM1	chr14:65928395-65929688	GM12878	blood:	n/a	n/a
43	FOXP2	chr14:65934694-65934901	SK-N-MC	brain:	n/a	n/a
44	GATA3	chr14:65928876-65929905	SK-N-SH	brain:	n/a	n/a
45	GTF2F1	chr14:65939023-65939042	H1-hESC	embryonic stem cell:	n/a	n/a
46	HCFC1	chr14:65935545-65935548	K562	blood:	n/a	n/a
47	IKZF1	chr14:65928934-65929651	GM12878	blood:	n/a	n/a
48	IKZF1	chr14:65937765-65938334	GM12878	blood:	n/a	n/a
49	IRF1	chr14:65938378-65938530	K562	blood:	n/a	n/a
50	IRF4	chr14:65928892-65929628	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65913553..65916302-chr14:65929744..65931459,2	MCF-7	breast:
2	chr14:65929743..65931722-chr14:65943733..65946479,2	K562	blood:
3	chr14:65939143..65941360-chr14:65944171..65946687,3	MCF-7	breast:
4	chr14:65922479..65925027-chr14:65929955..65931987,2	K562	blood:
5	chr14:65879676..65881204-chr14:65933662..65936142,2	MCF-7	breast:
6	chr14:65925362..65927679-chr14:65938765..65941541,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-12	chr14:65934525-65935059	NONHSAT037392

miRNA name	Chromosome Location	mirBase accession
hsa-miR-625-5p	chr14:65937834-65937854	MIMAT0003294
hsa-miR-625-3p	chr14:65937871-65937892	MIMAT0004808

Variant related genes	Relation type
RPL21P8	TF binding region
MIR625	TF binding region
ENSG00000033170	chromatin interactions
PLEKHJ1	Mature miRNA region
ILK	Mature miRNA region
IL12RB2	Mature miRNA region
SP1	Mature miRNA region
ASH1L	Mature miRNA region
NPM1	Mature miRNA region
HIST1H2BI	Mature miRNA region
PRR13	Mature miRNA region
ADAR	Mature miRNA region
SERBP1	Mature miRNA region
FHIT	Mature miRNA region
NTRK3	Mature miRNA region
XBP1	Mature miRNA region
CERS2	Mature miRNA region
SPATC1L	Mature miRNA region
AHR	Mature miRNA region

Extended variants
information (count: 352 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17779007	chr14:65929336-65929337	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112725065	chr14:65929346-65929347	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs180826302	chr14:65929492-65929493	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142318176	chr14:65929501-65929502	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368798605	chr14:65929521-65929522	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371920735	chr14:65929530-65929531	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187674939	chr14:65929562-65929563	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144617550	chr14:65929576-65929577	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77158535	chr14:65929592-65929593	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs74056785	chr14:65929593-65929594	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546837135	chr14:65929635-65929636	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148896863	chr14:65929637-65929638	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190817348	chr14:65929640-65929641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78821415	chr14:65929650-65929651	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573247923	chr14:65929685-65929686	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111725165	chr14:65929694-65929695	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569256743	chr14:65929697-65929698	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371459143	chr14:65929712-65929713	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571978385	chr14:65929714-65929715	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545481948	chr14:65929765-65929766	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11844089	chr14:65929808-65929809	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558226901	chr14:65929833-65929834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34105141	chr14:65929870-65929871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36072223	chr14:65929872-65929873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578002118	chr14:65929885-65929886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71420500	chr14:65929900-65929901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs8003664	chr14:65929919-65929920	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116384935	chr14:65930010-65930011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573523098	chr14:65930018-65930019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75540562	chr14:65930021-65930022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77173158	chr14:65930119-65930120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561851782	chr14:65930142-65930143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200086531	chr14:65930160-65930161	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71126749	chr14:65930166-65930167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148024830	chr14:65930183-65930184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140780654	chr14:65930205-65930206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368072622	chr14:65930214-65930215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79665113	chr14:65930225-65930226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117446347	chr14:65930233-65930234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114159713	chr14:65930236-65930237	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12587986	chr14:65930237-65930238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144631901	chr14:65930253-65930254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549686812	chr14:65930258-65930259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114862806	chr14:65930277-65930278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538531518	chr14:65930288-65930289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113422907	chr14:65930425-65930426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551449536	chr14:65930460-65930461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571632400	chr14:65930465-65930466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138586610	chr14:65930487-65930488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141571203	chr14:65930514-65930515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	18496225	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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65898400-65935600	Weak transcription	Gastric	stomach
3	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
6	chr14:65917200-65936600	Weak transcription	Pancreas	Pancrea
7	chr14:65918600-65935600	Weak transcription	Fetal Stomach	stomach
8	chr14:65920400-65937800	Weak transcription	Ovary	ovary
9	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
10	chr14:65922200-65936400	Weak transcription	Placenta	Placenta
11	chr14:65923200-65934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:65923200-65936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:65923200-65938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:65923400-65935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:65923400-65937000	Weak transcription	Brain Germinal Matrix	brain
16	chr14:65923400-65938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
18	chr14:65924000-65937600	Weak transcription	Fetal Brain Female	brain
19	chr14:65924200-65936600	Weak transcription	Lung	lung
20	chr14:65924400-65930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:65924400-65935400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:65924600-65935400	Weak transcription	Fetal Intestine Small	intestine
23	chr14:65925200-65936000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:65925600-65931600	Strong transcription	Dnd41	blood
25	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
26	chr14:65926000-65938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:65927200-65929400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:65927400-65930400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:65927600-65934800	Weak transcription	Fetal Lung	lung
30	chr14:65927600-65935400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:65927600-65936600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:65927600-65936600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:65927800-65929800	Enhancers	HMEC	breast
34	chr14:65928000-65929400	Enhancers	Brain Angular Gyrus	brain
35	chr14:65928000-65929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr14:65928000-65929800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:65928000-65929800	Flanking Active TSS	GM12878-XiMat	blood
38	chr14:65928000-65929800	Enhancers	Osteobl	bone
39	chr14:65928000-65930200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:65928000-65930400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:65928000-65936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:65928200-65929400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:65928200-65929600	Enhancers	Primary B cells from peripheral blood	blood
44	chr14:65928200-65929600	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:65928200-65929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:65928200-65929800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:65928200-65929800	Enhancers	NH-A	brain
48	chr14:65928200-65930200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:65928200-65936400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:65928200-65936400	Weak transcription	Fetal Intestine Large	intestine

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