Variant report

Variant	nsv893415
Chromosome Location	chr9:71347988-71364351
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	chr9:71354673-71355058	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:71361914-71362649	K562	blood:	n/a	n/a
3	ARID3A	chr9:71355349-71355811	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:71362885-71363286	K562	blood:	n/a	n/a
5	ATF1	chr9:71361951-71362362	K562	blood:	n/a	n/a
6	BHLHE40	chr9:71361728-71362342	K562	blood:	n/a	n/a
7	BHLHE40	chr9:71354740-71354793	K562	blood:	n/a	n/a
8	CBX3	chr9:71361945-71362348	K562	blood:	n/a	n/a
9	CCNT2	chr9:71361446-71362374	K562	blood:	n/a	chr9:71362151-71362171
10	CEBPB	chr9:71361947-71362551	K562	blood:	n/a	chr9:71362229-71362242 chr9:71362229-71362242
11	CEBPB	chr9:71362027-71362346	K562	blood:	n/a	chr9:71362229-71362242 chr9:71362229-71362242
12	CEBPB	chr9:71354431-71354665	H1-hESC	embryonic stem cell:	n/a	chr9:71354544-71354557 chr9:71354544-71354555
13	CEBPB	chr9:71354434-71354626	HepG2	liver:	n/a	chr9:71354544-71354557 chr9:71354544-71354555
14	CEBPB	chr9:71361908-71362477	K562	blood:	n/a	chr9:71362229-71362242 chr9:71362229-71362242
15	CEBPB	chr9:71355368-71355852	MCF-7	breast:	n/a	n/a
16	CEBPB	chr9:71354396-71354727	K562	blood:	n/a	chr9:71354544-71354557 chr9:71354544-71354555
17	CEBPB	chr9:71355461-71355732	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr9:71355362-71355868	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:71354395-71354900	HepG2	liver:	n/a	chr9:71354544-71354557 chr9:71354544-71354555
20	CEBPB	chr9:71355253-71355837	MCF-7	breast:	n/a	n/a
21	CEBPB	chr9:71354448-71354749	HepG2	liver:	n/a	chr9:71354544-71354557 chr9:71354544-71354555
22	CEBPB	chr9:71355439-71355642	HepG2	liver:	n/a	n/a
23	CEBPD	chr9:71361882-71362503	K562	blood:	n/a	n/a
24	CEBPD	chr9:71361919-71362505	K562	blood:	n/a	n/a
25	CHD2	chr9:71363002-71363176	K562	blood:	n/a	n/a
26	CTCF	chr9:71363314-71363369	LNCaP	prostate:	n/a	n/a
27	CTCF	chr9:71361933-71362314	K562	blood:	n/a	n/a
28	CTCF	chr9:71362032-71362138	K562	blood:	n/a	n/a
29	CTCF	chr9:71359440-71359590	GM06990	blood:	n/a	n/a
30	CUX1	chr9:71361944-71362507	K562	blood:	n/a	n/a
31	CUX1	chr9:71362929-71363194	K562	blood:	n/a	n/a
32	EBF1	chr9:71359731-71359732	GM12878	blood:	n/a	n/a
33	EGR1	chr9:71363695-71363885	K562	blood:	n/a	n/a
34	EP300	chr9:71361869-71362577	K562	blood:	n/a	n/a
35	EP300	chr9:71354392-71355251	HepG2	liver:	n/a	chr9:71354545-71354559
36	EP300	chr9:71354655-71355149	HepG2	liver:	n/a	n/a
37	EP300	chr9:71355298-71355885	HepG2	liver:	n/a	n/a
38	EP300	chr9:71362008-71362407	K562	blood:	n/a	n/a
39	EP300	chr9:71354628-71355203	HepG2	liver:	n/a	n/a
40	EP300	chr9:71362896-71363167	K562	blood:	n/a	n/a
41	FOXA2	chr9:71354634-71355112	HepG2	liver:	n/a	n/a
42	FOXA2	chr9:71355412-71355702	HepG2	liver:	n/a	n/a
43	GATA1	chr9:71356365-71357002	PBDE	blood:	n/a	chr9:71356571-71356578 chr9:71356757-71356767
44	GATA1	chr9:71362012-71362392	PBDEFetal	blood:	n/a	chr9:71362154-71362171
45	GATA1	chr9:71361494-71363397	K562	blood:	n/a	chr9:71362154-71362171
46	GATA1	chr9:71361337-71363399	PBDE	blood:	n/a	chr9:71362154-71362171
47	GATA2	chr9:71361938-71362341	K562	blood:	n/a	chr9:71362154-71362171
48	GATA2	chr9:71361969-71362372	K562	blood:	n/a	chr9:71362154-71362171
49	GATA2	chr9:71361907-71362452	K562	blood:	n/a	chr9:71362154-71362171
50	GATA3	chr9:71361880-71362455	MCF-7	breast:	n/a	chr9:71362154-71362171

No.	Distal block	Cell Line	Cell type
1	chr9:71360686..71364939-chr9:71391201..71394992,4	K562	blood:
2	chr9:71364345..71366935-chr9:71393170..71395028,2	MCF-7	breast:
3	chr9:71318773..71321660-chr9:71357020..71360216,3	K562	blood:
4	chr9:71362860..71364586-chr9:71376737..71378891,2	K562	blood:
5	chr9:71360620..71364939-chr9:71391141..71394857,5	K562	blood:
6	chr9:71353906..71356063-chr9:71357403..71360003,2	K562	blood:
7	chr9:71361634..71364182-chr9:71379350..71381885,2	K562	blood:
8	chr9:71357154..71359879-chr9:71394031..71396553,2	MCF-7	breast:
9	chr9:71341357..71343787-chr9:71348342..71350761,2	K562	blood:
10	chr9:71362013..71363947-chr9:71388418..71390450,2	K562	blood:
11	chr9:71318947..71321633-chr9:71353997..71355633,2	MCF-7	breast:
12	chr9:71345141..71347064-chr9:71360683..71362254,2	K562	blood:
13	chr9:71363342..71365410-chr9:71370725..71372503,2	K562	blood:
14	chr9:71317976..71320955-chr9:71361746..71363959,2	K562	blood:
15	chr9:71361632..71363163-chr9:71392966..71395444,2	MCF-7	breast:
16	chr9:71354907..71358283-chr9:71360291..71362317,4	MCF-7	breast:
17	chr9:71347274..71349362-chr9:71397346..71399719,2	K562	blood:
18	chr9:71361257..71364169-chr9:71367076..71369811,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM122A-1	chr9:71357417-71357573	NONHSAT131753

Variant related genes	Relation type
PIP5K1B	TF binding region
ENSG00000187866	chromatin interactions
ENSG00000107242	chromatin interactions

Extended variants
information (count: 525 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13296679	chr9:71347988-71347989	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549190457	chr9:71347989-71347990	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112962581	chr9:71348009-71348010	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562040600	chr9:71348100-71348101	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529397078	chr9:71348118-71348119	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs193288404	chr9:71348136-71348137	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569296649	chr9:71348145-71348146	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373254299	chr9:71348204-71348205	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149827959	chr9:71348218-71348219	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552084883	chr9:71348229-71348230	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185038462	chr9:71348316-71348317	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534125851	chr9:71348327-71348328	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368483893	chr9:71348418-71348419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189158609	chr9:71348422-71348423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148559173	chr9:71348439-71348440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34444813	chr9:71348460-71348461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556415687	chr9:71348469-71348470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76507900	chr9:71348508-71348509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71500333	chr9:71348544-71348545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77060979	chr9:71348564-71348565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35759487	chr9:71348573-71348574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555715413	chr9:71348617-71348618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570112155	chr9:71348646-71348647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144066194	chr9:71348681-71348682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12682815	chr9:71348776-71348777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559157985	chr9:71348806-71348807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572353680	chr9:71348838-71348839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3945288	chr9:71348843-71348844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541696736	chr9:71348872-71348873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561139568	chr9:71348876-71348877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181107016	chr9:71348923-71348924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529340571	chr9:71348941-71348942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551111167	chr9:71348961-71348962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373570769	chr9:71348982-71348983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563002444	chr9:71348992-71348993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533339858	chr9:71349031-71349032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76167711	chr9:71349069-71349070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139824456	chr9:71349084-71349085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534518898	chr9:71349201-71349202	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114495270	chr9:71349202-71349203	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567873242	chr9:71349217-71349218	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11143572	chr9:71349232-71349233	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs555825728	chr9:71349247-71349248	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11143573	chr9:71349256-71349257	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143128500	chr9:71349324-71349325	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538245101	chr9:71349356-71349357	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573597831	chr9:71349357-71349358	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151224235	chr9:71349386-71349387	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115564899	chr9:71349387-71349388	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542928343	chr9:71349394-71349395	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
2	chr9:71337000-71350600	Weak transcription	Gastric	stomach
3	chr9:71342600-71354600	Enhancers	Fetal Intestine Large	intestine
4	chr9:71343400-71363000	Weak transcription	GM12878-XiMat	blood
5	chr9:71343800-71357200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:71344600-71354000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:71344800-71350400	Enhancers	Fetal Intestine Small	intestine
8	chr9:71345400-71350200	Enhancers	Stomach Mucosa	stomach
9	chr9:71345400-71350800	Weak transcription	Colonic Mucosa	Colon
10	chr9:71345600-71352800	Enhancers	Fetal Heart	heart
11	chr9:71346200-71348200	Enhancers	Small Intestine	intestine
12	chr9:71346400-71348200	Enhancers	Lung	lung
13	chr9:71346600-71348000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr9:71346600-71352200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:71346600-71353400	Weak transcription	Psoas Muscle	Psoas
16	chr9:71346800-71348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:71346800-71348000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:71346800-71348200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:71346800-71350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:71346800-71350600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:71346800-71350800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:71347000-71348000	Weak transcription	Left Ventricle	heart
23	chr9:71347000-71352200	Enhancers	Duodenum Mucosa	Duodenum
24	chr9:71347200-71348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:71347200-71350600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:71347200-71354600	Weak transcription	K562	blood
27	chr9:71347400-71348000	Enhancers	HepG2	liver
28	chr9:71347400-71348400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:71347400-71357800	Weak transcription	Primary B cells from cord blood	blood
30	chr9:71347600-71348000	Enhancers	Right Ventricle	heart
31	chr9:71347600-71348400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:71347600-71348400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr9:71347800-71348400	Enhancers	Right Atrium	heart
34	chr9:71348000-71348200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr9:71348000-71348200	Flanking Active TSS	HepG2	liver
36	chr9:71348000-71348400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:71348000-71348400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:71348000-71348400	Enhancers	Left Ventricle	heart
39	chr9:71348000-71349400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr9:71348000-71350400	Weak transcription	Right Ventricle	heart
41	chr9:71348000-71354400	Weak transcription	Pancreas	Pancrea
42	chr9:71348200-71348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:71348200-71348400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr9:71348200-71348400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:71348200-71350800	Weak transcription	Small Intestine	intestine
46	chr9:71348200-71350800	Enhancers	HepG2	liver
47	chr9:71348200-71359000	Weak transcription	Lung	lung
48	chr9:71348400-71349200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:71348400-71349400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:71348400-71349600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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