Variant report

Variant	esv3428737
Chromosome Location	chr9:100835494-100835919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
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	chr9:100835880-100836030	HEEpiC	esophagus:	n/a	n/a
2	ELF1	chr9:100834871-100835513	MCF-7	breast:	n/a	n/a
3	MAX	chr9:100834912-100835623	MCF-7	breast:	n/a	n/a
4	MYC	chr9:100835359-100835521	MCF-7	breast:	n/a	n/a
5	NR2F2	chr9:100834884-100835623	MCF-7	breast:	n/a	n/a
6	POLR2A	chr9:100835041-100835505	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:100835397-100835530	MCF-7	breast:	n/a	n/a
8	POLR2A	chr9:100835710-100835823	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:100835283-100835498	K562	blood:	n/a	n/a
10	ZNF384	chr9:100835345-100835653	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100822595..100824589-chr9:100834188..100836915,2	MCF-7	breast:
2	chr9:100829196..100831340-chr9:100834533..100836675,2	K562	blood:
3	chr9:100683356..100686345-chr9:100832359..100837233,6	MCF-7	breast:
4	chr9:100745732..100748566-chr9:100835046..100837989,2	MCF-7	breast:
5	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
6	chr9:100828471..100830288-chr9:100834435..100836026,2	MCF-7	breast:
7	chr9:100829515..100832291-chr9:100834643..100836675,3	K562	blood:
8	chr9:100833054..100835913-chr9:100950027..100952929,2	MCF-7	breast:
9	chr19:55917273..55919241-chr9:100834526..100836640,2	MCF-7	breast:
10	chr9:100832336..100835863-chr9:100838081..100840239,3	K562	blood:
11	chr9:100817775..100822653-chr9:100832609..100840095,16	MCF-7	breast:
12	chr9:100817802..100822153-chr9:100831375..100837110,8	MCF-7	breast:
13	chr9:100833115..100836817-chr9:100878685..100885112,5	MCF-7	breast:
14	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
15	chr9:100835251..100838541-chr9:100953348..100956508,6	MCF-7	breast:
16	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
17	chr9:100833852..100836754-chr9:100837101..100838637,2	MCF-7	breast:

No data

Variant related genes	Relation type
NANS	TF binding region
ENSG00000108106	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000136932	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566379458	chr9:100835499-100835500	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs533527346	chr9:100835506-100835507	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs553733386	chr9:100835515-100835516	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs541344986	chr9:100835518-100835519	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs369879698	chr9:100835542-100835543	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs10606237	chr9:100835554-100835555	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs552899635	chr9:100835581-100835582	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs113149883	chr9:100835582-100835583	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs142106033	chr9:100835631-100835632	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs151149926	chr9:100835690-100835691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs555889378	chr9:100835702-100835703	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs374998611	chr9:100835718-100835719	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs575813260	chr9:100835723-100835724	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs545225771	chr9:100835756-100835757	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs140062462	chr9:100835787-100835788	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs369767931	chr9:100835801-100835802	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs541017766	chr9:100835864-100835865	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs561342546	chr9:100835868-100835869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs34969073	chr9:100835873-100835874	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs398011593	chr9:100835885-100835886	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs41340647	chr9:100835907-100835908	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Bipolar disorder	18458673	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
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100819600-100848400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:100820000-100836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:100820000-100836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:100820000-100836600	Weak transcription	Brain Angular Gyrus	brain
5	chr9:100820000-100843000	Weak transcription	Brain Substantia Nigra	brain
6	chr9:100820000-100843200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:100820000-100843200	Weak transcription	Brain Germinal Matrix	brain
8	chr9:100820000-100843200	Weak transcription	Fetal Brain Female	brain
9	chr9:100820000-100847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:100820000-100849600	Weak transcription	Fetal Brain Male	brain
11	chr9:100820000-100850000	Weak transcription	Fetal Kidney	kidney
12	chr9:100820200-100843000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:100821000-100836400	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:100821200-100836400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr9:100821200-100836600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:100821200-100849600	Weak transcription	Right Atrium	heart
17	chr9:100822400-100836400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:100822400-100836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr9:100823600-100836400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:100823800-100842000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:100824600-100836600	Weak transcription	Psoas Muscle	Psoas
22	chr9:100824600-100840000	Weak transcription	Ovary	ovary
23	chr9:100824800-100836400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:100824800-100840000	Weak transcription	Right Ventricle	heart
25	chr9:100824800-100843200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:100825000-100836400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr9:100827200-100841200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:100827400-100836400	Weak transcription	Primary B cells from cord blood	blood
29	chr9:100827400-100836400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:100827400-100836600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:100827400-100836600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:100827400-100836600	Weak transcription	Aorta	Aorta
33	chr9:100827400-100836600	Weak transcription	NHLF	lung
34	chr9:100827400-100838400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:100827600-100836400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr9:100827600-100836400	Weak transcription	Dnd41	blood
37	chr9:100827600-100836600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:100827600-100838200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:100828400-100836600	Weak transcription	Brain Anterior Caudate	brain
40	chr9:100828600-100836400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr9:100828600-100836400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr9:100828600-100836400	Weak transcription	Fetal Thymus	thymus
43	chr9:100828600-100836400	Weak transcription	Left Ventricle	heart
44	chr9:100828600-100836600	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:100828600-100836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr9:100828600-100843200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:100828800-100836200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr9:100828800-100836400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:100828800-100836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:100828800-100836400	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links