Variant report

Variant	esv1843455
Chromosome Location	chr9:117221251-117223429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117215610..117219815-chr9:117220644..117223512,4	MCF-7	breast:
2	chr9:117213718..117215959-chr9:117219451..117221821,2	MCF-7	breast:
3	chr9:117214514..117216768-chr9:117220298..117222829,3	K562	blood:
4	chr9:117222478..117225235-chr9:117348495..117351490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136888	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574334565	chr9:117221276-117221277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4978589	chr9:117221359-117221360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148132345	chr9:117221397-117221398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7041286	chr9:117221415-117221416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189371722	chr9:117221437-117221438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565206783	chr9:117221508-117221509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182369899	chr9:117221512-117221513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550828510	chr9:117221524-117221525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199984459	chr9:117221583-117221584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386415965	chr9:117221584-117221585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386415966	chr9:117221593-117221594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397799474	chr9:117221594-117221595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566585703	chr9:117221618-117221619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567849579	chr9:117221639-117221640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530364282	chr9:117221680-117221681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547267305	chr9:117221689-117221690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184762718	chr9:117221702-117221703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538219340	chr9:117221717-117221718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558543057	chr9:117221724-117221725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189486595	chr9:117221730-117221731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11447125	chr9:117221741-117221742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397767439	chr9:117221749-117221750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537939691	chr9:117221773-117221774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558527336	chr9:117221817-117221818	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577198849	chr9:117221821-117221822	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144112093	chr9:117221828-117221829	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7868739	chr9:117221864-117221865	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7868975	chr9:117221897-117221898	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553615965	chr9:117221953-117221954	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577089993	chr9:117221966-117221967	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545808664	chr9:117221987-117221988	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565267332	chr9:117222016-117222017	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181487527	chr9:117222032-117222033	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564982556	chr9:117222041-117222042	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186218958	chr9:117222043-117222044	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561370736	chr9:117222091-117222092	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530274491	chr9:117222126-117222127	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547228350	chr9:117222150-117222151	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146899703	chr9:117222184-117222185	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532816729	chr9:117222207-117222208	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4978590	chr9:117222230-117222231	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367990827	chr9:117222263-117222264	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10759707	chr9:117222287-117222288	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs537448985	chr9:117222313-117222314	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554206462	chr9:117222371-117222372	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76515312	chr9:117222388-117222389	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533711249	chr9:117222450-117222451	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553530138	chr9:117222463-117222464	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191326414	chr9:117222468-117222469	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181442937	chr9:117222514-117222515	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117203000-117237800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:117203400-117226800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:117209400-117223000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:117211800-117227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:117212000-117227400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:117212800-117222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:117213000-117223000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:117213400-117222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:117213400-117223200	Weak transcription	Fetal Stomach	stomach
10	chr9:117214800-117221800	Weak transcription	Pancreas	Pancrea
11	chr9:117214800-117223000	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:117215000-117222800	Weak transcription	Brain Angular Gyrus	brain
13	chr9:117215200-117222200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:117215200-117222600	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:117215400-117221800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:117215400-117223600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:117215400-117226600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:117215600-117227200	Weak transcription	Thymus	Thymus
19	chr9:117215600-117227400	Weak transcription	Spleen	Spleen
20	chr9:117215800-117226600	Weak transcription	Fetal Intestine Small	intestine
21	chr9:117216600-117234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:117217600-117226000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:117217800-117223000	Weak transcription	Brain Substantia Nigra	brain
24	chr9:117217800-117242600	Weak transcription	HepG2	liver
25	chr9:117218400-117232200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:117219400-117222800	Weak transcription	Stomach Mucosa	stomach
27	chr9:117220400-117246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr9:117220600-117222200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:117221000-117221800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:117221200-117221400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:117221400-117222600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:117221800-117222000	Enhancers	Fetal Muscle Trunk	muscle
33	chr9:117221800-117222400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:117221800-117222600	Enhancers	Pancreas	Pancrea
35	chr9:117221800-117223800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:117221800-117224000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:117221800-117224000	Enhancers	Brain Germinal Matrix	brain
38	chr9:117222000-117238800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr9:117222200-117222600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr9:117222200-117223000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:117222200-117223200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr9:117222200-117223200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr9:117222200-117223200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr9:117222200-117223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:117222200-117223200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:117222200-117223600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:117222200-117223800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:117222200-117223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:117222200-117223800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:117222200-117244600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links