Variant report

Variant	esv1010025
Chromosome Location	chr9:78912186-78922397
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	chr9:78701639..78702246-chr9:78917623..78918458,2	MCF-7	breast:
2	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:
3	chr9:78834517..78835118-chr9:78917910..78918421,2	MCF-7	breast:
4	chr9:78624133..78625062-chr9:78913423..78914349,5	MCF-7	breast:
5	chr9:78593987..78594566-chr9:78913006..78913887,2	MCF-7	breast:
6	chr9:78593538..78594448-chr9:78917639..78918554,2	MCF-7	breast:
7	chr9:78594386..78595229-chr9:78917510..78918589,3	MCF-7	breast:
8	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:

No data

Extended variants
information (count: 337 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17785866	chr9:78912218-78912219	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186554266	chr9:78912224-78912225	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78081551	chr9:78912228-78912229	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367786753	chr9:78912236-78912237	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552954108	chr9:78912278-78912279	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527836995	chr9:78912334-78912335	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35141755	chr9:78912346-78912347	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116912813	chr9:78912376-78912377	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191380876	chr9:78912414-78912415	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529752210	chr9:78912451-78912452	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183940798	chr9:78912453-78912454	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188715689	chr9:78912479-78912480	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532429565	chr9:78912529-78912530	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552148602	chr9:78912558-78912559	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7860497	chr9:78912560-78912561	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181552112	chr9:78912572-78912573	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528124515	chr9:78912583-78912584	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557025563	chr9:78912594-78912595	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12343896	chr9:78912697-78912698	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185101086	chr9:78912715-78912716	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571673213	chr9:78912719-78912720	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567404419	chr9:78912738-78912739	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117628941	chr9:78912771-78912772	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374405173	chr9:78912792-78912793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190030116	chr9:78912813-78912814	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576366290	chr9:78912820-78912821	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545689560	chr9:78912831-78912832	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147203663	chr9:78912832-78912833	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111506320	chr9:78912841-78912842	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573016536	chr9:78912854-78912855	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369870970	chr9:78912855-78912856	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558959434	chr9:78912857-78912858	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs182255932	chr9:78912907-78912908	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs72743106	chr9:78912932-78912933	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575538920	chr9:78912943-78912944	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560993749	chr9:78913018-78913019	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574581291	chr9:78913019-78913020	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187304671	chr9:78913044-78913045	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543905383	chr9:78913073-78913074	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117340684	chr9:78913091-78913092	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189784551	chr9:78913116-78913117	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75476604	chr9:78913125-78913126	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140505628	chr9:78913144-78913145	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547957637	chr9:78913182-78913183	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75823909	chr9:78913217-78913218	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144362961	chr9:78913240-78913241	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536336218	chr9:78913276-78913277	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181029039	chr9:78913306-78913307	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570056273	chr9:78913326-78913327	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538623609	chr9:78913335-78913336	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78883000-78917200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:78903400-78917600	Weak transcription	Stomach Mucosa	stomach
3	chr9:78905800-78922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:78906000-78912800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:78907800-78912200	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:78908000-78912200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:78908000-78912200	Weak transcription	NHLF	lung
8	chr9:78908000-78912600	Weak transcription	Ovary	ovary
9	chr9:78908800-78912400	Enhancers	Fetal Muscle Leg	muscle
10	chr9:78909400-78912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:78909600-78912400	Weak transcription	HUVEC	blood vessel
12	chr9:78910400-78912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:78911000-78912200	Enhancers	Fetal Muscle Trunk	muscle
14	chr9:78911400-78913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:78911400-78913000	Enhancers	HSMM	muscle
16	chr9:78911600-78912200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:78911600-78912400	Enhancers	Fetal Stomach	stomach
18	chr9:78911600-78912800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr9:78911600-78913400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:78911600-78913800	Genic enhancers	Fetal Intestine Small	intestine
21	chr9:78911800-78912200	Enhancers	Fetal Kidney	kidney
22	chr9:78911800-78912400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:78911800-78912400	Genic enhancers	Rectal Mucosa Donor 29	rectum
24	chr9:78911800-78912600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:78911800-78912800	Enhancers	Small Intestine	intestine
26	chr9:78911800-78913000	Flanking Active TSS	HSMMtube	muscle
27	chr9:78912000-78912200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:78912000-78912600	Enhancers	Fetal Lung	lung
29	chr9:78912000-78913000	Enhancers	Fetal Thymus	thymus
30	chr9:78912000-78913600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:78912000-78916000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr9:78912000-78917600	Strong transcription	Fetal Intestine Large	intestine
33	chr9:78912200-78912400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:78912200-78912400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:78912200-78912400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:78912200-78912400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:78912200-78912400	Enhancers	Adipose Nuclei	Adipose
38	chr9:78912200-78912400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr9:78912200-78912400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr9:78912200-78912400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr9:78912200-78912400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr9:78912200-78912400	Enhancers	NHDF-Ad	bronchial
43	chr9:78912200-78912600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:78912200-78912600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:78912200-78912600	Enhancers	NHLF	lung
46	chr9:78912200-78912800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:78912200-78913000	Flanking Active TSS	Fetal Kidney	kidney
48	chr9:78912200-78913000	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr9:78912200-78913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:78912200-78913200	Enhancers	Primary hematopoietic stem cells	blood

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