Variant report

Variant	esv3347273
Chromosome Location	chr9:94666131-94669029
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	chr9:94667321..94670775-chr9:94706336..94711619,7	K562	blood:
2	chr9:94667170..94669992-chr9:94682219..94685194,2	K562	blood:
3	chr9:94650894..94652826-chr9:94665751..94669153,3	K562	blood:
4	chr9:94664745..94669992-chr9:94681267..94685780,5	K562	blood:
5	chr9:94513749..94516669-chr9:94667565..94670057,2	K562	blood:
6	chr9:94645315..94647676-chr9:94666839..94670309,3	K562	blood:
7	chr9:94666595..94672238-chr9:94672403..94678372,8	K562	blood:
8	chr9:94592841..94594519-chr9:94668983..94670504,2	K562	blood:
9	chr9:94667534..94670775-chr9:94707582..94710553,5	K562	blood:
10	chr9:94658208..94667163-chr9:94705322..94714120,17	K562	blood:
11	chr3:102426713..102428233-chr9:94668915..94670633,2	K562	blood:
12	chr9:94668680..94671587-chr9:94678743..94680656,2	K562	blood:
13	chr9:94668298..94670919-chr9:94728281..94730524,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138256421	chr9:94666131-94666132	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73519181	chr9:94666197-94666198	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149618006	chr9:94666267-94666268	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551530565	chr9:94666272-94666273	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566559070	chr9:94666294-94666295	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537869004	chr9:94666303-94666304	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368876536	chr9:94666304-94666305	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534037180	chr9:94666310-94666311	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200944899	chr9:94666324-94666325	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551800062	chr9:94666325-94666326	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548904559	chr9:94666332-94666333	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs386736288	chr9:94666333-94666334	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112315755	chr9:94666334-94666335	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537757022	chr9:94666336-94666337	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556003648	chr9:94666337-94666338	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577635024	chr9:94666340-94666341	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3083902	chr9:94666343-94666344	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146140407	chr9:94666354-94666355	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556203594	chr9:94666428-94666429	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183203185	chr9:94666483-94666484	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187839176	chr9:94666543-94666544	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543252300	chr9:94666546-94666547	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572917618	chr9:94666549-94666550	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576546381	chr9:94666639-94666640	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544149788	chr9:94666657-94666658	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2252879	chr9:94666693-94666694	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532992987	chr9:94666710-94666711	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77195586	chr9:94666729-94666730	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560242697	chr9:94666742-94666743	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192952033	chr9:94666743-94666744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71494487	chr9:94666793-94666794	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370865388	chr9:94666872-94666873	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140182114	chr9:94666873-94666874	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538015390	chr9:94666933-94666934	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549691670	chr9:94666938-94666939	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10820915	chr9:94666958-94666959	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1881384	chr9:94666993-94666994	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564795331	chr9:94667004-94667005	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371049897	chr9:94667095-94667096	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376440999	chr9:94667125-94667126	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374399573	chr9:94667156-94667157	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536363555	chr9:94667159-94667160	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555020926	chr9:94667164-94667165	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576589906	chr9:94667173-94667174	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113003280	chr9:94667194-94667195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565620345	chr9:94667196-94667197	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577611494	chr9:94667220-94667221	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182094584	chr9:94667231-94667232	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559899166	chr9:94667252-94667253	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7389565	chr9:94667254-94667255	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Mental retardation	21693067	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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94658000-94667400	Enhancers	Fetal Lung	lung
2	chr9:94658200-94666200	Enhancers	Fetal Kidney	kidney
3	chr9:94659600-94668400	Enhancers	Colon Smooth Muscle	Colon
4	chr9:94660200-94666200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:94661200-94666600	Enhancers	Fetal Stomach	stomach
6	chr9:94662200-94669400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:94662800-94666600	Weak transcription	Colonic Mucosa	Colon
8	chr9:94662800-94668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:94662800-94668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94662800-94668400	Weak transcription	Spleen	Spleen
11	chr9:94663000-94667000	Weak transcription	Esophagus	oesophagus
12	chr9:94663000-94668400	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:94663000-94668400	Weak transcription	Right Atrium	heart
14	chr9:94663400-94667600	Weak transcription	Fetal Brain Male	brain
15	chr9:94663400-94668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:94663600-94667600	Enhancers	Pancreas	Pancrea
17	chr9:94663600-94668400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:94664000-94667800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:94664200-94666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:94664400-94666200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:94664400-94668200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:94664600-94666800	Enhancers	Placenta	Placenta
23	chr9:94664800-94669600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:94665000-94667000	Enhancers	Fetal Intestine Small	intestine
25	chr9:94665000-94667800	Weak transcription	Brain Anterior Caudate	brain
26	chr9:94665000-94668200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr9:94665200-94666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:94665200-94666600	Weak transcription	Gastric	stomach
29	chr9:94665200-94666800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:94665200-94666800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:94665200-94667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:94665200-94667600	Weak transcription	Small Intestine	intestine
33	chr9:94665200-94668200	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:94665400-94666600	Weak transcription	Fetal Thymus	thymus
35	chr9:94665400-94667000	Enhancers	Fetal Intestine Large	intestine
36	chr9:94665400-94668400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:94665400-94669600	Weak transcription	Ovary	ovary
38	chr9:94665600-94666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:94665600-94666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:94665600-94667000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:94665800-94666200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:94665800-94666200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr9:94665800-94666600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr9:94665800-94666600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:94665800-94667000	Weak transcription	Fetal Heart	heart
46	chr9:94665800-94668400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:94665800-94669600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:94666000-94666200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:94666000-94666200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:94666000-94666400	Weak transcription	Fetal Muscle Leg	muscle

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