Variant report

Variant	esv3483865
Chromosome Location	chr9:79086125-79088057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79078849..79081929-chr9:79083400..79086374,3	MCF-7	breast:
2	chr9:79086560..79088176-chr9:79091535..79093262,2	MCF-7	breast:
3	chr9:79073421..79076264-chr9:79087604..79089143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554438517	chr9:79086130-79086131	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112038038	chr9:79086154-79086155	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543363090	chr9:79086161-79086162	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562823401	chr9:79086177-79086178	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560096983	chr9:79086190-79086191	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531746086	chr9:79086234-79086235	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545425461	chr9:79086248-79086249	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565230983	chr9:79086304-79086305	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527820996	chr9:79086307-79086308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547242139	chr9:79086373-79086374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192639879	chr9:79086403-79086404	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148250337	chr9:79086445-79086446	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549675571	chr9:79086461-79086462	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77673226	chr9:79086468-79086469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141181180	chr9:79086473-79086474	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10512063	chr9:79086495-79086496	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146213336	chr9:79086573-79086574	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138380190	chr9:79086584-79086585	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556926283	chr9:79086595-79086596	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534728851	chr9:79086725-79086726	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115063817	chr9:79086734-79086735	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574286754	chr9:79086744-79086745	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555961414	chr9:79086764-79086765	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184115410	chr9:79086784-79086785	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12684940	chr9:79086803-79086804	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576719714	chr9:79086821-79086822	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556944610	chr9:79086825-79086826	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545059437	chr9:79086912-79086913	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137965443	chr9:79086984-79086985	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61503611	chr9:79087036-79087037	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397973103	chr9:79087044-79087045	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11144921	chr9:79087062-79087063	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541519482	chr9:79087088-79087089	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192292353	chr9:79087118-79087119	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184354691	chr9:79087123-79087124	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190234198	chr9:79087143-79087144	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563223198	chr9:79087153-79087154	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145950708	chr9:79087185-79087186	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73449890	chr9:79087197-79087198	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139400135	chr9:79087204-79087205	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534375271	chr9:79087468-79087469	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548316341	chr9:79087484-79087485	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73449892	chr9:79087493-79087494	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536836511	chr9:79087499-79087500	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77634128	chr9:79087566-79087567	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373316775	chr9:79087579-79087580	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547939879	chr9:79087637-79087638	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200218071	chr9:79087661-79087662	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370386588	chr9:79087663-79087664	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558931819	chr9:79087665-79087666	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79075200-79087200	Weak transcription	Spleen	Spleen
2	chr9:79075400-79086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:79075400-79087200	Weak transcription	Colonic Mucosa	Colon
4	chr9:79075400-79089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:79075400-79090200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:79075400-79101000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
8	chr9:79076000-79087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:79076000-79088000	Weak transcription	NHDF-Ad	bronchial
10	chr9:79076800-79087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:79077600-79092800	Weak transcription	Fetal Stomach	stomach
12	chr9:79078600-79092400	Weak transcription	HMEC	breast
13	chr9:79078800-79086800	Weak transcription	Small Intestine	intestine
14	chr9:79078800-79087000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:79080600-79086800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr9:79080800-79117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:79081000-79087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:79081200-79086800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:79081200-79087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:79081400-79087400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:79081400-79088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:79081600-79086200	Weak transcription	Fetal Thymus	thymus
23	chr9:79081800-79093000	Weak transcription	Lung	lung
24	chr9:79081800-79117200	Weak transcription	Gastric	stomach
25	chr9:79082000-79086200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:79082600-79117600	Weak transcription	NHLF	lung
27	chr9:79082800-79087200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:79083000-79088800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:79083600-79090200	Weak transcription	HSMM	muscle
30	chr9:79083600-79090400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:79083600-79092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:79084000-79086800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:79085000-79086800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:79085200-79086400	Enhancers	Primary B cells from cord blood	blood
35	chr9:79085200-79087400	Genic enhancers	Fetal Intestine Small	intestine
36	chr9:79085200-79089000	Genic enhancers	Osteobl	bone
37	chr9:79085200-79093000	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:79085600-79087400	Enhancers	GM12878-XiMat	blood
39	chr9:79085600-79088600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr9:79085600-79089000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:79085600-79091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:79085800-79086200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr9:79085800-79087000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:79085800-79087000	Enhancers	Duodenum Mucosa	Duodenum
45	chr9:79085800-79087600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:79085800-79087800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:79085800-79088600	Enhancers	Fetal Intestine Large	intestine
48	chr9:79085800-79088800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr9:79085800-79088800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:79085800-79089000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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