Variant report

Variant	nsv972435
Chromosome Location	chr9:102067448-102071368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:102068594-102068644	HepG2	liver:	n/a	n/a
2	CTCF	chr9:102068407-102068813	K562	blood:	n/a	n/a
3	CTCF	chr9:102068540-102068690	HepG2	liver:	n/a	n/a
4	CTCF	chr9:102068542-102068654	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:102068545-102068650	MCF-7	breast:	n/a	n/a
6	CTCF	chr9:102068595-102068637	Fibrobl	skin:	n/a	n/a
7	CTCF	chr9:102068548-102068656	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr9:102068480-102068630	K562	blood:	n/a	n/a
9	CTCF	chr9:102069832-102069866	GM13976	blood:	n/a	n/a
10	CTCF	chr9:102068589-102068640	GM12892	blood:	n/a	n/a
11	CTCF	chr9:102068546-102068661	K562	blood:	n/a	n/a
12	CTCF	chr9:102068540-102068690	K562	blood:	n/a	n/a
13	CTCF	chr9:102068555-102068659	MCF-7	breast:	n/a	n/a
14	CTCF	chr9:102068584-102068649	A549	lung:	n/a	n/a
15	CTCF	chr9:102068408-102068582	K562	blood:	n/a	n/a
16	CTCF	chr9:102068534-102068672	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr9:102070101-102070676	MCF-7	breast:	n/a	chr9:102070140-102070150
18	MAX	chr9:102070215-102070522	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr9:102068905-102069014	K562	blood:	n/a	n/a
20	POLR2A	chr9:102068454-102068502	MCF-7	breast:	n/a	n/a
21	POLR2A	chr9:102067646-102067915	A549	lung:	n/a	n/a
22	POLR2A	chr9:102068161-102068383	MCF-7	breast:	n/a	n/a
23	POLR2A	chr9:102067648-102067797	A549	lung:	n/a	n/a
24	POLR2A	chr9:102068473-102068572	A549	lung:	n/a	n/a
25	POLR2A	chr9:102068396-102068450	MCF-7	breast:	n/a	n/a
26	SP1	chr9:102070153-102070508	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr9:102070133-102070585	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF7L2	chr9:102070129-102070541	MCF-7	breast:	n/a	chr9:102070269-102070276
29	UBTF	chr9:102068848-102068944	K562	blood:	n/a	n/a
30	YY1	chr9:102070248-102070534	ECC-1	luminal epithelium:	n/a	n/a
31	ZNF217	chr9:102070251-102070507	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:102068578-102068628	Hepatocyte	liver:	n/a
2	chr9:102068578-102068628	A549	lung:	n/a
3	chr9:102068578-102068628	MCF-7	breast:	n/a
4	chr9:102068578-102068628	NHBE	bronchial:	n/a
5	chr9:102068578-102068628	HPAEpiC	pulmonary alveolar:	n/a
6	chr9:102068578-102068628	T-47D	breast:	n/a
7	chr9:102068578-102068628	PFSK-1	brain:	n/a
8	chr9:102068578-102068628	SK-N-SH_RA	brain:	n/a
9	chr9:102068578-102068628	AG10803	skin:	n/a
10	chr9:102068578-102068628	HEEpiC	esophagus:	n/a
11	chr9:102068578-102068628	LNCaP	prostate:	n/a
12	chr9:102068578-102068628	MCF10A-Er-Src	breast:	n/a
13	chr9:102068578-102068628	H1-hESC	embryonic stem cell:	embryo
14	chr9:102068578-102068628	GM12878	blood:	n/a
15	chr9:102068578-102068628	HCM	heart:	n/a
16	chr9:102068578-102068628	BJ	skin:	n/a
17	chr9:102068578-102068628	SK-N-MC	brain:	n/a
18	chr9:102068578-102068628	HRPEpiC	eye:	n/a
19	chr9:102068578-102068628	ProgFib	skin:	n/a
20	chr9:102068578-102068628	AG09319	gingival:	n/a
21	chr9:102068578-102068628	NHDF-neo	bronchial:	n/a
22	chr9:102068578-102068628	CMK	blood:	n/a
23	chr9:102068578-102068628	HCF	heart:	n/a
24	chr9:102068578-102068628	HCPEpiC	choroid plexus:	n/a
25	chr9:102068578-102068628	PrEC	prostate:	n/a
26	chr9:102068578-102068628	AG04450	lung:	fetal
27	chr9:102068578-102068628	HepG2	liver:	n/a
28	chr9:102068578-102068628	NH-A	brain:	n/a
29	chr9:102068578-102068628	Jurkat	blood:	n/a
30	chr9:102068578-102068628	GM12891	blood:	n/a
31	chr9:102068578-102068628	Hela-S3	cervix:	n/a
32	chr9:102068578-102068628	NB4	blood:	n/a
33	chr9:102068578-102068628	HNPCEpiC	eye:	n/a
34	chr9:102068578-102068628	GM19239	blood:	n/a
35	chr9:102068578-102068628	ECC-1	luminal epithelium:	n/a
36	chr9:102068578-102068628	K562	blood:	n/a
37	chr9:102068578-102068628	U87	brain:	n/a
38	chr9:102068578-102068628	GM12892	blood:	n/a
39	chr9:102068578-102068628	Caco-2	colon:	n/a
40	chr9:102068578-102068628	HRCEpiC	kidney:	n/a
41	chr9:102068578-102068628	BE2_C	brain:	n/a
42	chr9:102068578-102068628	HMEC	breast:	n/a
43	chr9:102068578-102068628	GM06990	blood:	n/a
44	chr9:102068578-102068628	HCT-116	colon:	n/a
45	chr9:102068578-102068628	PANC-1	pancreas:	n/a
46	chr9:102068578-102068628	HAEpiC	amniotic membrane:	n/a
47	chr9:102068578-102068628	RPTEC	kidney:	n/a
48	chr9:102068578-102068628	AG09309	skin:	n/a
49	chr9:102068578-102068628	HUVEC	blood vessel:	n/a
50	chr9:102068578-102068628	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:5173465..5176142-chr9:102070629..102072534,2	MCF-7	breast:
2	chr9:102067677..102069694-chr9:102073108..102075861,2	K562	blood:
3	chr9:101982802..101985328-chr9:102065308..102068359,3	MCF-7	breast:
4	chr9:102071163..102073683-chr9:102075008..102078219,3	K562	blood:
5	chr9:102071163..102073837-chr9:102075746..102078549,2	K562	blood:

No data

Variant related genes	Relation type
KRT8P11	TF binding region
KRT8P11	CpG island
ENSG00000119523	chromatin interactions
ENSG00000106803	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55831955	chr9:102067454-102067455	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115828323	chr9:102067467-102067468	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573465801	chr9:102067494-102067495	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542549573	chr9:102067516-102067517	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562240126	chr9:102067517-102067518	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs41274650	chr9:102067523-102067524	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544782639	chr9:102067531-102067532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs151087474	chr9:102067532-102067533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538582948	chr9:102067545-102067546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532198342	chr9:102067554-102067555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377222536	chr9:102067570-102067571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191553733	chr9:102067574-102067575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376610753	chr9:102067581-102067582	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559341752	chr9:102067598-102067599	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200912320	chr9:102067629-102067630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548495161	chr9:102067634-102067635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568246625	chr9:102067729-102067730	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536860833	chr9:102067732-102067733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550331506	chr9:102067744-102067745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570613362	chr9:102067749-102067750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143577538	chr9:102067769-102067770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184339282	chr9:102067820-102067821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573236062	chr9:102067825-102067826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535459061	chr9:102067838-102067839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556040214	chr9:102067839-102067840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575820450	chr9:102067849-102067850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544824025	chr9:102067851-102067852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370753917	chr9:102067866-102067867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs578211778	chr9:102067871-102067872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs395420	chr9:102067887-102067888	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559165580	chr9:102067907-102067908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528126167	chr9:102067912-102067913	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547839041	chr9:102067922-102067923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554708998	chr9:102067933-102067934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562034250	chr9:102068021-102068022	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187226014	chr9:102068031-102068032	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550368534	chr9:102068042-102068043	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184437	chr9:102068058-102068059	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535596627	chr9:102068092-102068093	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547098975	chr9:102068098-102068099	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146806350	chr9:102068138-102068139	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs535864596	chr9:102068161-102068162	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555429273	chr9:102068168-102068169	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372233021	chr9:102068199-102068200	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576018193	chr9:102068202-102068203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs61910688	chr9:102068211-102068212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75723368	chr9:102068232-102068233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558488285	chr9:102068255-102068256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs578232454	chr9:102068277-102068278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540457498	chr9:102068280-102068281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102059200-102068600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:102061800-102069400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:102062400-102070200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:102066400-102068000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:102066600-102069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:102066800-102069800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:102068000-102068200	Bivalent Enhancer	K562	blood
8	chr9:102068000-102070200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:102068600-102069000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:102069400-102070400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:102069600-102070800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:102069800-102070200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:102069800-102070200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:102069800-102070400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr9:102069800-102070400	Enhancers	Placenta	Placenta
16	chr9:102069800-102070600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:102069800-102070600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:102069800-102070800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:102070000-102070200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:102070000-102070600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:102070200-102070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:102070200-102071200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:102070800-102071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:102071200-102072400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links