Variant report

Variant	esv3404236
Chromosome Location	chr9:104217731-104222129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104220056..104222734-chr9:104292272..104293989,2	K562	blood:
2	chr9:104221027..104221969-chr9:104291863..104293035,11	MCF-7	breast:
3	chr9:104221036..104221738-chr9:104355766..104356658,2	MCF-7	breast:
4	chr9:104221464..104223281-chr9:104260800..104263635,2	K562	blood:
5	chr9:104221066..104221882-chr9:107505389..107506114,2	K562	blood:
6	chr9:104219436..104220096-chr9:104292310..104293060,2	MCF-7	breast:
7	chr9:104212462..104214116-chr9:104215702..104218126,2	MCF-7	breast:
8	chr9:104211110..104212494-chr9:104220920..104222010,4	MCF-7	breast:
9	chr9:104221425..104221969-chr9:104295249..104296028,2	MCF-7	breast:
10	chr9:104220969..104222009-chr9:104292098..104293000,3	K562	blood:
11	chr9:104221002..104221801-chr9:104329610..104330484,3	MCF-7	breast:
12	chr9:104221444..104221955-chr9:104329285..104330133,2	K562	blood:
13	chr9:104221051..104221944-chr9:104292075..104293445,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165152	chromatin interactions
ENSG00000270982	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537250985	chr9:104217737-104217738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531461566	chr9:104217764-104217765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551171353	chr9:104217840-104217841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2065395	chr9:104217909-104217910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533549376	chr9:104217916-104217917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547322832	chr9:104217947-104217948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182975094	chr9:104217975-104217976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111934370	chr9:104217987-104217988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556824351	chr9:104218005-104218006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567659405	chr9:104218028-104218029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576696468	chr9:104218077-104218078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539165546	chr9:104218078-104218079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150325291	chr9:104218119-104218120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572457668	chr9:104218146-104218147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541079048	chr9:104218148-104218149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535005151	chr9:104218178-104218179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116591857	chr9:104218237-104218238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553361803	chr9:104218251-104218252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573617936	chr9:104218252-104218253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542489631	chr9:104218302-104218303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374562994	chr9:104218354-104218355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562376202	chr9:104218361-104218362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531393690	chr9:104218395-104218396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368025032	chr9:104218397-104218398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545133959	chr9:104218417-104218418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117102805	chr9:104218434-104218435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527340065	chr9:104218476-104218477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547431201	chr9:104218488-104218489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567249428	chr9:104218573-104218574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76834024	chr9:104218599-104218600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550486668	chr9:104218613-104218614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570312565	chr9:104218626-104218627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144975048	chr9:104218647-104218648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10989511	chr9:104218656-104218657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374742118	chr9:104218703-104218704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535087840	chr9:104218718-104218719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538989606	chr9:104218733-104218734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187305078	chr9:104218852-104218853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574474479	chr9:104218880-104218881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542551282	chr9:104218885-104218886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5899446	chr9:104218901-104218902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397949495	chr9:104218906-104218907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556036192	chr9:104218940-104218941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111401399	chr9:104218962-104218963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17187478	chr9:104218974-104218975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2150736	chr9:104218978-104218979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149091040	chr9:104218980-104218981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561857319	chr9:104218989-104218990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527424321	chr9:104219059-104219060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541112510	chr9:104219062-104219063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104221200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:104212200-104219000	Weak transcription	Liver	Liver
4	chr9:104216200-104218000	Weak transcription	Adipose Nuclei	Adipose
5	chr9:104216400-104217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:104216400-104218200	Weak transcription	HepG2	liver
7	chr9:104216600-104218000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:104216800-104218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:104216800-104218000	Weak transcription	NHDF-Ad	bronchial
10	chr9:104216800-104218000	Weak transcription	Osteobl	bone
11	chr9:104216800-104219600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:104216800-104220400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:104217000-104227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:104217600-104218800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:104217800-104219000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:104218000-104218600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:104218000-104218600	Enhancers	NHDF-Ad	bronchial
18	chr9:104218000-104218800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:104218000-104218800	Enhancers	Osteobl	bone
20	chr9:104218000-104219000	Enhancers	Adipose Nuclei	Adipose
21	chr9:104218000-104219400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:104218200-104218800	Enhancers	NH-A	brain
23	chr9:104218200-104222000	Enhancers	HepG2	liver
24	chr9:104218200-104223000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:104218600-104220000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:104218600-104228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:104218800-104219000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:104218800-104219600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:104218800-104219600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:104218800-104223400	Weak transcription	NH-A	brain
31	chr9:104219000-104219400	Weak transcription	Adipose Nuclei	Adipose
32	chr9:104219000-104219600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:104219000-104219600	Enhancers	Liver	Liver
34	chr9:104219000-104220000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:104219000-104221800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:104219200-104219800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:104219200-104220600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:104219400-104219600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:104219400-104219600	Enhancers	Adipose Nuclei	Adipose
40	chr9:104219600-104220200	Weak transcription	Liver	Liver
41	chr9:104219600-104220600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:104219600-104220600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:104219600-104220600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:104219600-104220600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:104219600-104220600	Weak transcription	Adipose Nuclei	Adipose
46	chr9:104219600-104220800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:104219800-104220200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:104220000-104220400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:104220000-104220600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:104220200-104221200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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