Variant report

Variant	nsv466512
Chromosome Location	chr9:116413751-116446881
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:74)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:116353834..116354605-chr9:116419925..116420881,6	MCF-7	breast:
2	chr9:116170045..116172847-chr9:116414698..116417875,3	MCF-7	breast:
3	chr9:116071324..116072067-chr9:116420288..116420934,2	MCF-7	breast:
4	chr9:116353846..116356462-chr9:116416610..116418742,2	K562	blood:
5	chr9:116172481..116174769-chr9:116413541..116415745,2	MCF-7	breast:
6	chr9:116352986..116356030-chr9:116417056..116419740,3	MCF-7	breast:
7	chr9:116353625..116354642-chr9:116417382..116418475,19	MCF-7	breast:
8	chr9:116163598..116164314-chr9:116419979..116420889,5	MCF-7	breast:
9	chr9:116444149..116445206-chr9:116499394..116500357,5	MCF-7	breast:
10	chr9:116166447..116168138-chr9:116418016..116420140,2	MCF-7	breast:
11	chr9:116352994..116354643-chr9:116419596..116420916,16	K562	blood:
12	chr9:116420136..116422934-chr9:116424938..116428259,3	K562	blood:
13	chr9:116356338..116358088-chr9:116413316..116415073,2	MCF-7	breast:
14	chr9:116171531..116174199-chr9:116438647..116441604,2	MCF-7	breast:
15	chr9:116446255..116449038-chr9:116459333..116460864,2	MCF-7	breast:
16	chr9:116173018..116174761-chr9:116419577..116421827,2	MCF-7	breast:
17	chr9:116420295..116422298-chr9:116424343..116426140,2	MCF-7	breast:
18	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:
19	chr9:116446024..116448854-chr9:116450291..116452633,2	MCF-7	breast:
20	chr9:116038235..116040898-chr9:116423469..116425169,2	MCF-7	breast:
21	chr9:116353637..116354753-chr9:116417023..116418365,35	MCF-7	breast:
22	chr9:116423224..116425225-chr9:116427295..116429432,2	MCF-7	breast:
23	chr9:116419179..116421733-chr9:116422325..116423904,2	MCF-7	breast:
24	chr9:116036759..116038980-chr9:116416097..116418826,3	MCF-7	breast:
25	chr9:116170697..116173619-chr9:116417957..116421147,3	MCF-7	breast:
26	chr9:116419739..116422322-chr9:116424476..116427451,2	K562	blood:
27	chr9:116409796..116412169-chr9:116418517..116420512,2	MCF-7	breast:
28	chr9:116419179..116421733-chr9:116422325..116423904,2	MCF-7	breast:
29	chr9:116444208..116445302-chr9:117067860..117068805,3	K562	blood:
30	chr9:116353664..116354880-chr9:116419965..116420903,13	MCF-7	breast:
31	chr9:116423224..116425225-chr9:116427295..116429432,2	MCF-7	breast:
32	chr9:116429602..116432035-chr9:116434573..116436097,2	K562	blood:
33	chr9:116342253..116346123-chr9:116415296..116418266,3	MCF-7	breast:
34	chr9:116208196..116208729-chr9:116419915..116420419,2	K562	blood:
35	chr9:116352358..116352865-chr9:116419481..116420213,2	MCF-7	breast:
36	chr9:116429602..116432035-chr9:116434573..116436097,2	K562	blood:
37	chr9:116355511..116356119-chr9:116417442..116418047,2	MCF-7	breast:
38	chr9:116198894..116199696-chr9:116419927..116420485,2	K562	blood:
39	chr9:116420136..116422934-chr9:116424938..116428259,3	K562	blood:
40	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
41	chr9:116443879..116445192-chr9:117067884..117068751,5	MCF-7	breast:
42	chr9:116419937..116420664-chr9:116444300..116444924,2	MCF-7	breast:
43	chr9:116444199..116445197-chr9:116499432..116500315,4	MCF-7	breast:
44	chr9:116444226..116445026-chr9:116809967..116810698,3	MCF-7	breast:
45	chr9:116036620..116038894-chr9:116416639..116419058,2	K562	blood:
46	chr9:116353627..116354618-chr9:116417225..116418348,10	K562	blood:
47	chr9:116301103..116303347-chr9:116416136..116418556,2	MCF-7	breast:
48	chr9:116410830..116412902-chr9:116418886..116421304,2	MCF-7	breast:
49	chr9:116036423..116037332-chr9:116419975..116420491,2	K562	blood:
50	chr9:116435760..116437445-chr9:116570526..116572083,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS3-2	chr9:116444186-116445135	ENSG00000227482
2	lnc-RGS3-2	chr9:116414297-116414360	ENSG00000227482

No data

Variant related genes	Relation type
ENSG00000157657	chromatin interactions
ENSG00000148218	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000196739	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000148229	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000138835	chromatin interactions
ENSG00000237073	chromatin interactions
ENSG00000227482	chromatin interactions

Extended variants
information (count: 1405 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10817497	chr9:116413751-116413752	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557756355	chr9:116413757-116413758	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs145215888	chr9:116413776-116413777	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184889741	chr9:116413796-116413797	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188134363	chr9:116413797-116413798	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs557143732	chr9:116413808-116413809	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111359733	chr9:116413833-116413834	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs542730760	chr9:116413846-116413847	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559519932	chr9:116413860-116413861	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs572873017	chr9:116413879-116413880	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs115808779	chr9:116413891-116413892	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565392126	chr9:116413937-116413938	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531256728	chr9:116414030-116414031	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs550859081	chr9:116414035-116414036	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs561129237	chr9:116414036-116414037	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145410295	chr9:116414084-116414085	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs12003589	chr9:116414098-116414099	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs191432144	chr9:116414113-116414114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs10981860	chr9:116414114-116414115	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138871593	chr9:116414116-116414117	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs538613273	chr9:116414132-116414133	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs560478	chr9:116414149-116414150	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
23	rs571425862	chr9:116414158-116414159	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537369541	chr9:116414166-116414167	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs147618342	chr9:116414274-116414275	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs555750994	chr9:116414321-116414322	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs140472246	chr9:116414331-116414332	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs144384374	chr9:116414332-116414333	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs189447559	chr9:116414352-116414353	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs572984312	chr9:116414395-116414396	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575596360	chr9:116414417-116414418	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs636732	chr9:116414426-116414427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111981237	chr9:116414431-116414432	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs12115627	chr9:116414432-116414433	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182483999	chr9:116414494-116414495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs554684722	chr9:116414499-116414500	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs60442553	chr9:116414504-116414505	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530219256	chr9:116414532-116414533	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs546796682	chr9:116414547-116414548	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs544874522	chr9:116414589-116414590	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs560168579	chr9:116414590-116414591	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs532663424	chr9:116414631-116414632	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs4979270	chr9:116414633-116414634	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369729660	chr9:116414658-116414659	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs386737792	chr9:116414659-116414660	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs540260379	chr9:116414661-116414662	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs56282924	chr9:116414669-116414670	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs140387344	chr9:116414705-116414706	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs550892621	chr9:116414735-116414736	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs567607794	chr9:116414737-116414738	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116410400-116413800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:116410400-116415600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:116410600-116413800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:116410800-116414800	Weak transcription	Fetal Intestine Large	intestine
5	chr9:116411000-116415000	Weak transcription	Fetal Intestine Small	intestine
6	chr9:116411000-116416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:116411200-116415400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:116411400-116413800	Enhancers	HUVEC	blood vessel
9	chr9:116411400-116415400	Enhancers	Osteobl	bone
10	chr9:116411400-116416600	Weak transcription	Adipose Nuclei	Adipose
11	chr9:116411600-116420000	Weak transcription	Fetal Brain Female	brain
12	chr9:116411800-116417800	Enhancers	Liver	Liver
13	chr9:116412000-116414000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:116412000-116414200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:116412000-116414200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:116412000-116414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:116412000-116414800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:116412000-116415000	Weak transcription	Right Atrium	heart
19	chr9:116412000-116415000	Weak transcription	Right Ventricle	heart
20	chr9:116412000-116416400	Weak transcription	Fetal Lung	lung
21	chr9:116412200-116415400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:116412200-116417200	Weak transcription	Brain Anterior Caudate	brain
23	chr9:116412200-116417400	Weak transcription	Brain Angular Gyrus	brain
24	chr9:116412200-116417400	Weak transcription	Brain Substantia Nigra	brain
25	chr9:116412200-116417600	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:116412400-116414000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:116412400-116417200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:116412600-116413800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:116412600-116414000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:116412600-116414200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:116412600-116417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:116412800-116413800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:116412800-116414000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:116412800-116414000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:116412800-116414800	Weak transcription	HMEC	breast
36	chr9:116412800-116416600	Weak transcription	Colon Smooth Muscle	Colon
37	chr9:116412800-116420000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr9:116413000-116413800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr9:116413200-116414000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:116413200-116414000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:116413200-116414800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:116413200-116415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:116413200-116416200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:116413200-116416600	Weak transcription	Spleen	Spleen
45	chr9:116413400-116414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:116413400-116414200	Weak transcription	NHDF-Ad	bronchial
47	chr9:116413400-116414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:116413400-116414800	Weak transcription	Fetal Heart	heart
49	chr9:116413400-116415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:116413400-116415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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