Variant report

Variant	nsv823208
Chromosome Location	chr5:126092945-126094740
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	ARID3A	chr5:126093310-126093498	K562	blood:	n/a	n/a
2	ARID3A	chr5:126093824-126094235	K562	blood:	n/a	n/a
3	BATF	chr5:126094262-126094510	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:126094226-126094556	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:126093768-126093991	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:126094168-126094522	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:126093988-126094686	GM12878	blood:	n/a	n/a
8	CCNT2	chr5:126093960-126094125	K562	blood:	n/a	n/a
9	CEBPB	chr5:126093773-126094506	K562	blood:	n/a	n/a
10	CHD1	chr5:126094278-126094595	GM12878	blood:	n/a	n/a
11	CHD2	chr5:126093780-126094561	GM12878	blood:	n/a	n/a
12	CUX1	chr5:126093855-126094335	K562	blood:	n/a	chr5:126094019-126094035
13	EBF1	chr5:126094117-126094551	GM12878	blood:	n/a	n/a
14	EBF1	chr5:126094100-126094510	GM12878	blood:	n/a	n/a
15	EBF1	chr5:126093788-126094569	GM12878	blood:	n/a	n/a
16	EP300	chr5:126093969-126094473	K562	blood:	n/a	n/a
17	EP300	chr5:126094104-126094601	GM12878	blood:	n/a	n/a
18	EP300	chr5:126094063-126094632	GM12878	blood:	n/a	n/a
19	GATA2	chr5:126093991-126094314	K562	blood:	n/a	chr5:126094109-126094120 chr5:126094087-126094097
20	GATA3	chr5:126094090-126094164	SH-SY5Y	brain:	n/a	chr5:126094109-126094120
21	HMGN3	chr5:126094047-126094318	K562	blood:	n/a	n/a
22	IKZF1	chr5:126093963-126094579	GM12878	blood:	n/a	n/a
23	JUN	chr5:126093442-126093642	K562	blood:	n/a	n/a
24	JUND	chr5:126094023-126094314	K562	blood:	n/a	chr5:126094195-126094206
25	MAX	chr5:126094196-126094425	K562	blood:	n/a	n/a
26	MAX	chr5:126093794-126094950	NB4	blood:	n/a	n/a
27	MTA3	chr5:126094005-126094714	GM12878	blood:	n/a	n/a
28	MTA3	chr5:126094150-126094646	GM12878	blood:	n/a	n/a
29	MXI1	chr5:126094190-126094617	GM12878	blood:	n/a	n/a
30	MYC	chr5:126094109-126094400	K562	blood:	n/a	n/a
31	MYC	chr5:126093802-126094642	NB4	blood:	n/a	n/a
32	NFATC1	chr5:126093920-126094696	GM12878	blood:	n/a	n/a
33	NFIC	chr5:126094192-126094551	GM12878	blood:	n/a	n/a
34	NFIC	chr5:126093657-126094145	GM12878	blood:	n/a	n/a
35	NFIC	chr5:126094206-126094719	GM12878	blood:	n/a	n/a
36	PAX5	chr5:126094276-126094510	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:126094068-126094615	HL-60	blood:	n/a	n/a
38	POLR2A	chr5:126094350-126094379	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:126093925-126094609	HL-60	blood:	n/a	n/a
40	POLR2A	chr5:126094270-126094271	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:126094067-126094595	Raji	blood:	n/a	n/a
42	POU2F2	chr5:126094174-126094554	GM12878	blood:	n/a	chr5:126094528-126094550
43	RCOR1	chr5:126093959-126094403	K562	blood:	n/a	n/a
44	RCOR1	chr5:126093978-126094524	K562	blood:	n/a	n/a
45	REST	chr5:126093958-126094259	K562	blood:	n/a	chr5:126094201-126094209
46	RUNX3	chr5:126094122-126094670	GM12878	blood:	n/a	n/a
47	RUNX3	chr5:126093660-126094684	GM12878	blood:	n/a	n/a
48	SP1	chr5:126094212-126094589	GM12878	blood:	n/a	chr5:126094341-126094350 chr5:126094341-126094351
49	SPI1	chr5:126094041-126094270	GM12891	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158
50	SPI1	chr5:126093831-126094622	HL-60	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158

No.	Distal block	Cell Line	Cell type
1	chr5:126086478..126088034-chr5:126091478..126094042,2	MCF-7	breast:
2	chr5:126076590..126078230-chr5:126093014..126095500,2	K562	blood:
3	chr5:126091168..126095262-chr5:126111673..126114591,6	K562	blood:
4	chr5:126079615..126082602-chr5:126091477..126095307,3	K562	blood:
5	chr5:126092644..126095197-chr5:126095579..126097728,2	K562	blood:
6	chr5:126011936..126014534-chr5:126093922..126095798,2	K562	blood:
7	chr5:126091797..126096824-chr5:126110600..126114072,4	MCF-7	breast:
8	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
9	chr5:126088892..126090481-chr5:126094114..126095663,2	K562	blood:

Variant related genes	Relation type
RNU6-752P	TF binding region
ENSG00000251072	chromatin interactions
ENSG00000113368	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112192102	chr5:126092959-126092960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs6875714	chr5:126092976-126092977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192951526	chr5:126093033-126093034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541731413	chr5:126093079-126093080	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555365753	chr5:126093083-126093084	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561507892	chr5:126093143-126093144	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573827233	chr5:126093148-126093149	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540872613	chr5:126093154-126093155	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs184711584	chr5:126093178-126093179	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552710336	chr5:126093186-126093187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577332592	chr5:126093234-126093235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12515582	chr5:126093345-126093346	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62391699	chr5:126093352-126093353	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567346409	chr5:126093393-126093394	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs62391700	chr5:126093395-126093396	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12515565	chr5:126093428-126093429	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111314438	chr5:126093445-126093446	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188498160	chr5:126093455-126093456	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551116440	chr5:126093458-126093459	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs181346881	chr5:126093496-126093497	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548018145	chr5:126093525-126093526	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571205286	chr5:126093543-126093544	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184990321	chr5:126093549-126093550	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7700393	chr5:126093551-126093552	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141643925	chr5:126093564-126093565	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs188283014	chr5:126093599-126093600	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs570106303	chr5:126093609-126093610	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs60807184	chr5:126093639-126093640	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535394114	chr5:126093662-126093663	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs145941388	chr5:126093663-126093664	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12518283	chr5:126093667-126093668	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs113016576	chr5:126093765-126093766	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549313300	chr5:126093783-126093784	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs34926977	chr5:126093811-126093812	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs12518331	chr5:126093846-126093847	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534882634	chr5:126093868-126093869	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368440431	chr5:126093935-126093936	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs577395008	chr5:126093967-126093968	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs150504956	chr5:126093968-126093969	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs556626958	chr5:126093970-126093971	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs575238968	chr5:126093998-126093999	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs556633973	chr5:126094045-126094046	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs187300607	chr5:126094073-126094074	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375927531	chr5:126094098-126094099	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs560898160	chr5:126094125-126094126	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574276836	chr5:126094155-126094156	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs191643809	chr5:126094175-126094176	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560026166	chr5:126094214-126094215	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs5871229	chr5:126094299-126094300	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs397694080	chr5:126094301-126094302	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126078600-126094200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126083600-126093000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126084800-126094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:126084800-126094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:126085200-126093800	Weak transcription	Dnd41	blood
6	chr5:126086600-126094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:126087400-126094000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:126089400-126094000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:126090000-126093800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:126090600-126093600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:126091600-126093000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:126091600-126093200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:126091600-126093400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:126091600-126093800	Weak transcription	Primary B cells from cord blood	blood
16	chr5:126091600-126093800	Weak transcription	K562	blood
17	chr5:126091600-126094200	Weak transcription	Fetal Thymus	thymus
18	chr5:126092800-126093800	Enhancers	GM12878-XiMat	blood
19	chr5:126092800-126094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:126093000-126093200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:126093000-126094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:126093200-126093600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:126093200-126094200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:126093400-126094600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:126093600-126095200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:126093600-126095800	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:126093800-126094000	Enhancers	K562	blood
28	chr5:126093800-126094200	Enhancers	Primary B cells from cord blood	blood
29	chr5:126093800-126094200	Enhancers	Dnd41	blood
30	chr5:126093800-126094400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:126093800-126094400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:126093800-126094600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:126093800-126094600	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:126093800-126095200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:126093800-126095200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr5:126093800-126095400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:126093800-126095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:126093800-126095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:126094000-126094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:126094000-126094200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:126094000-126094400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:126094000-126094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:126094000-126094400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:126094000-126094400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:126094000-126094400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:126094000-126094400	Enhancers	Brain Germinal Matrix	brain
47	chr5:126094000-126094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:126094000-126094600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:126094000-126094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:126094000-126094600	Enhancers	Fetal Brain Male	brain

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