Variant report

Variant	nsv972402
Chromosome Location	chr9:79012721-79015493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:79012940-79013090	HCFaa	heart:	n/a	n/a
2	CTCF	chr9:79012840-79012990	AoAF	blood vessel:	n/a	n/a
3	CTCF	chr9:79012840-79012990	AG04450	lung:	n/a	n/a
4	CTCF	chr9:79012920-79013070	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr9:79012920-79013070	HEK293	kidney:	n/a	n/a
6	GABPA	chr9:79014395-79014527	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:79014150-79014615	GM12878	blood:	n/a	n/a
8	STAT3	chr9:79015474-79015690	MCF10A-Er-Src	breast:	n/a	chr9:79015586-79015597
9	ZBTB33	chr9:79013844-79014166	K562	blood:	n/a	n/a
10	ZBTB33	chr9:79014258-79014574	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:79013444-79013494	PFSK-1	brain:	n/a
2	chr9:79013444-79013494	BJ	skin:	n/a
3	chr9:79013444-79013494	HAEpiC	amniotic membrane:	n/a
4	chr9:79013444-79013494	HRE	kidney:	n/a
5	chr9:79013444-79013494	HRCEpiC	kidney:	n/a
6	chr9:79013444-79013494	HCM	heart:	n/a
7	chr9:79013444-79013494	T-47D	breast:	n/a
8	chr9:79013444-79013494	PrEC	prostate:	n/a
9	chr9:79013444-79013494	Hela-S3	cervix:	n/a
10	chr9:79013444-79013494	LNCaP	prostate:	n/a
11	chr9:79013444-79013494	HepG2	liver:	n/a
12	chr9:79013444-79013494	HCF	heart:	n/a
13	chr9:79013444-79013494	MCF-7	breast:	n/a
14	chr9:79013444-79013494	HEEpiC	esophagus:	n/a
15	chr9:79013444-79013494	SK-N-MC	brain:	n/a
16	chr9:79013444-79013494	RPTEC	kidney:	n/a
17	chr9:79013444-79013494	HEK293	kidney:	embryo
18	chr9:79013444-79013494	U87	brain:	n/a
19	chr9:79013444-79013494	SKMC	muscle:	n/a
20	chr9:79013444-79013494	NT2-D1	testis:	n/a
21	chr9:79013444-79013494	NB4	blood:	n/a
22	chr9:79013444-79013494	NH-A	brain:	n/a
23	chr9:79013444-79013494	CMK	blood:	n/a
24	chr9:79013444-79013494	HMEC	breast:	n/a
25	chr9:79013444-79013494	GM19239	blood:	n/a
26	chr9:79013444-79013494	BE2_C	brain:	n/a
27	chr9:79013444-79013494	NHBE	bronchial:	n/a
28	chr9:79013444-79013494	AG09319	gingival:	n/a
29	chr9:79013444-79013494	HCPEpiC	choroid plexus:	n/a
30	chr9:79013444-79013494	GM06990	blood:	n/a
31	chr9:79013444-79013494	HRPEpiC	eye:	n/a
32	chr9:79013444-79013494	HNPCEpiC	eye:	n/a
33	chr9:79013444-79013494	MCF10A-Er-Src	breast:	n/a
34	chr9:79013444-79013494	ECC-1	luminal epithelium:	n/a
35	chr9:79013444-79013494	SAEC	small airway:	n/a
36	chr9:79013444-79013494	Jurkat	blood:	n/a
37	chr9:79013444-79013494	AG04450	lung:	fetal
38	chr9:79013444-79013494	AG10803	skin:	n/a
39	chr9:79013444-79013494	AG09309	skin:	n/a
40	chr9:79013444-79013494	GM12878	blood:	n/a
41	chr9:79013444-79013494	ProgFib	skin:	n/a
42	chr9:79013444-79013494	AoSMC	blood vessel:	n/a
43	chr9:79013444-79013494	H1-hESC	embryonic stem cell:	embryo
44	chr9:79013444-79013494	ovcar-3	ovarian:	n/a
45	chr9:79013444-79013494	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:79013444-79013494	Hepatocyte	liver:	n/a
47	chr9:79013444-79013494	SK-N-SH_RA	brain:	n/a
48	chr9:79013444-79013494	SK-N-SH	brain:	n/a
49	chr9:79013444-79013494	HL-60	blood:	n/a
50	chr9:79013444-79013494	AG04449	skin:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:79011049..79012684-chr9:79015428..79017212,2	MCF-7	breast:
2	chr9:79008991..79011604-chr9:79014498..79020251,6	K562	blood:
3	chr9:79007886..79011336-chr9:79013243..79018063,7	MCF-7	breast:
4	chr9:79009095..79011288-chr9:79015114..79018669,3	K562	blood:
5	chr9:79014853..79017600-chr9:79074234..79077178,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPSAP9	TF binding region
RFK	TF binding region
RPSAP9	CpG island
RFK	CpG island
ENSG00000135002	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530767935	chr9:79012736-79012737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546490986	chr9:79012761-79012762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572506769	chr9:79012787-79012788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147608785	chr9:79012862-79012863	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs555029994	chr9:79012877-79012878	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs2377640	chr9:79012880-79012881	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373558089	chr9:79012915-79012916	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs80293192	chr9:79012951-79012952	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs543969442	chr9:79012974-79012975	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs563745595	chr9:79012995-79012996	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs577427862	chr9:79013001-79013002	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs546183574	chr9:79013010-79013011	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs191142179	chr9:79013016-79013017	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs576786118	chr9:79013029-79013030	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs528483485	chr9:79013088-79013089	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs182922569	chr9:79013120-79013121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140523561	chr9:79013151-79013152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144265143	chr9:79013193-79013194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550713063	chr9:79013212-79013213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369179208	chr9:79013256-79013257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76133875	chr9:79013278-79013279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147798842	chr9:79013290-79013291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140243318	chr9:79013299-79013300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541373132	chr9:79013333-79013334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376142695	chr9:79013334-79013335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535063663	chr9:79013340-79013341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554967064	chr9:79013343-79013344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188439613	chr9:79013382-79013383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537553217	chr9:79013424-79013425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7032816	chr9:79013432-79013433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61334567	chr9:79013435-79013436	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577363256	chr9:79013454-79013455	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs546416448	chr9:79013558-79013559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376968793	chr9:79013562-79013563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150295456	chr9:79013568-79013569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573607162	chr9:79013569-79013570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542215976	chr9:79013587-79013588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56162025	chr9:79013602-79013603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562078787	chr9:79013615-79013616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530990507	chr9:79013621-79013622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562036627	chr9:79013703-79013704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529936827	chr9:79013728-79013729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564647358	chr9:79013745-79013746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532968967	chr9:79013854-79013855	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs546419010	chr9:79013858-79013859	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201491163	chr9:79013863-79013864	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566404561	chr9:79013909-79013910	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529167379	chr9:79013939-79013940	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548529868	chr9:79013951-79013952	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568516778	chr9:79013984-79013985	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	20435627	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
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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79010200-79017000	Weak transcription	NH-A	brain
2	chr9:79010400-79014800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:79010600-79015200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:79010600-79015200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:79010600-79015200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:79010600-79015200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:79010600-79015200	Weak transcription	Placenta	Placenta
8	chr9:79010600-79015400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:79010600-79015400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:79010600-79015400	Weak transcription	HMEC	breast
11	chr9:79010600-79016600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:79010600-79016600	Weak transcription	NHLF	lung
13	chr9:79010600-79017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:79010600-79017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:79010600-79018000	Weak transcription	HUVEC	blood vessel
16	chr9:79010600-79018400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:79010600-79019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:79010800-79014800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:79010800-79015000	Weak transcription	GM12878-XiMat	blood
20	chr9:79010800-79015400	Weak transcription	A549	lung
21	chr9:79010800-79018400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr9:79010800-79018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr9:79010800-79018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:79010800-79018400	Weak transcription	NHDF-Ad	bronchial
25	chr9:79011000-79015000	Weak transcription	Hela-S3	cervix
26	chr9:79011000-79015200	Weak transcription	HepG2	liver
27	chr9:79011000-79018400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:79011000-79018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:79011000-79018400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:79011200-79015200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:79011200-79015200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:79011200-79018000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr9:79011200-79018400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr9:79011400-79016800	Weak transcription	Fetal Intestine Small	intestine
35	chr9:79013600-79015400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:79014800-79015600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:79014800-79016000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:79015000-79015400	Enhancers	GM12878-XiMat	blood
39	chr9:79015000-79016000	Enhancers	Hela-S3	cervix
40	chr9:79015200-79015600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:79015200-79015600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:79015200-79015800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr9:79015200-79016000	Enhancers	NHEK	skin
44	chr9:79015200-79016400	Enhancers	Placenta	Placenta
45	chr9:79015200-79016800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:79015200-79017200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:79015200-79019000	Enhancers	HepG2	liver
48	chr9:79015200-79019600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr9:79015400-79015600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:79015400-79016000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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