Variant report

Variant	esv3332537
Chromosome Location	chr9:94298446-94327291
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94304226..94307043-chr9:94316425..94318015,3	K562	blood:
2	chr9:94304226..94306682-chr9:94316425..94318015,2	K562	blood:
3	chr9:94314127..94316107-chr9:94326868..94329032,2	K562	blood:
4	chr9:94291588..94293189-chr9:94297156..94299545,2	MCF-7	breast:
5	chr9:94304226..94306682-chr9:94316425..94318015,2	K562	blood:
6	chr9:94314127..94316107-chr9:94326868..94329032,2	K562	blood:
7	chr9:94325270..94326833-chr9:94332082..94334751,2	MCF-7	breast:
8	chr9:94304226..94307043-chr9:94316425..94318015,3	K562	blood:

No data

Extended variants
information (count: 922 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554036336	chr9:94298449-94298450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370039719	chr9:94298466-94298467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76206612	chr9:94298478-94298479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536557332	chr9:94298486-94298487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554520986	chr9:94298492-94298493	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs16907585	chr9:94298524-94298525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs548579883	chr9:94298526-94298527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566985748	chr9:94298541-94298542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543496302	chr9:94298585-94298586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138987344	chr9:94298604-94298605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375021527	chr9:94298632-94298633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34282714	chr9:94298660-94298661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183289886	chr9:94298694-94298695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541100036	chr9:94298728-94298729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559535239	chr9:94298732-94298733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530192432	chr9:94298739-94298740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149880532	chr9:94298754-94298755	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536022338	chr9:94298755-94298756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78737504	chr9:94298807-94298808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531227653	chr9:94298821-94298822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549836870	chr9:94298887-94298888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571239886	chr9:94298895-94298896	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377427811	chr9:94298896-94298897	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187943260	chr9:94298903-94298904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547475829	chr9:94298956-94298957	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565871427	chr9:94298982-94298983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555485488	chr9:94299031-94299032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191983708	chr9:94299055-94299056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554742637	chr9:94299083-94299084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185173229	chr9:94299125-94299126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138197240	chr9:94299149-94299150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369161262	chr9:94299150-94299151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115876762	chr9:94299173-94299174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558552629	chr9:94299190-94299191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16907588	chr9:94299278-94299279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs541134753	chr9:94299290-94299291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559372079	chr9:94299310-94299311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149064595	chr9:94299342-94299343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542097943	chr9:94299367-94299368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563890243	chr9:94299391-94299392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188243297	chr9:94299453-94299454	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs12344821	chr9:94299460-94299461	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564883565	chr9:94299486-94299487	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs12344853	chr9:94299500-94299501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569021195	chr9:94299506-94299507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs373690316	chr9:94299512-94299513	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs547413004	chr9:94299513-94299514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs114816693	chr9:94299530-94299531	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs115415908	chr9:94299540-94299541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs537905482	chr9:94299542-94299543	Weak transcription Enhancers Bivalent Enhancer	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94292800-94299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:94293200-94300200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:94293200-94302000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:94293400-94298600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:94293400-94298600	Weak transcription	Fetal Lung	lung
6	chr9:94293600-94298600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:94295000-94299600	Enhancers	NH-A	brain
8	chr9:94296400-94299400	Enhancers	HMEC	breast
9	chr9:94297400-94300800	Enhancers	Fetal Intestine Large	intestine
10	chr9:94297600-94299000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:94297600-94299800	Enhancers	Fetal Intestine Small	intestine
12	chr9:94297800-94299000	Enhancers	NHEK	skin
13	chr9:94297800-94299200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:94297800-94299800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:94298000-94298600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:94298000-94298600	Enhancers	Osteobl	bone
17	chr9:94298000-94299000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:94298000-94299000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr9:94298000-94299000	Enhancers	Hela-S3	cervix
20	chr9:94298000-94299200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:94298000-94299600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:94298000-94299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:94298000-94299800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:94298000-94299800	Enhancers	NHDF-Ad	bronchial
25	chr9:94298000-94300600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:94298200-94298800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:94298200-94298800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr9:94298200-94298800	Enhancers	NHLF	lung
29	chr9:94298200-94299000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:94298200-94299000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr9:94298200-94299000	Enhancers	HSMM	muscle
32	chr9:94298200-94299200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:94298200-94299200	Enhancers	HepG2	liver
34	chr9:94298400-94298800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:94298400-94298800	Enhancers	Placenta	Placenta
36	chr9:94298400-94299000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:94298400-94299000	Flanking Active TSS	A549	lung
38	chr9:94298400-94299800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr9:94298400-94299800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr9:94298600-94298800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:94298600-94299000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:94298600-94299000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:94298600-94299000	Enhancers	Fetal Lung	lung
44	chr9:94298600-94299000	Enhancers	Lung	lung
45	chr9:94298600-94299000	Enhancers	Stomach Mucosa	stomach
46	chr9:94298600-94299000	Flanking Active TSS	Osteobl	bone
47	chr9:94298600-94299600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:94298800-94299000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:94298800-94299200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr9:94299000-94299600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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