Variant report

Variant	nsv1022227
Chromosome Location	chr9:15379786-15416659
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:15385459..15387196-chr9:15436159..15438276,2	K562	blood:
2	chr9:15386697..15389614-chr9:15422790..15424352,2	K562	blood:
3	chr9:15211245..15212139-chr9:15416585..15417547,5	MCF-7	breast:
4	chr9:15414032..15416513-chr9:15421401..15423007,2	K562	blood:
5	chr9:15393231..15396045-chr9:15401354..15402871,2	MCF-7	breast:
6	chr9:15277682..15279519-chr9:15415467..15418240,3	MCF-7	breast:
7	chr9:15399457..15401521-chr9:15510230..15512381,2	MCF-7	breast:
8	chr9:15380318..15382150-chr9:15422368..15424031,2	MCF-7	breast:
9	chr9:15305818..15308791-chr9:15400718..15402980,2	MCF-7	breast:
10	chr9:15415166..15416789-chr9:15420978..15423004,2	MCF-7	breast:
11	chr9:15305088..15306661-chr9:15415103..15416933,2	MCF-7	breast:
12	chr9:15393231..15396045-chr9:15401354..15402871,2	MCF-7	breast:
13	chr9:15414997..15416790-chr9:15421464..15423490,2	MCF-7	breast:
14	chr9:15372087..15374863-chr9:15401359..15403431,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155158	chromatin interactions
ENSG00000164975	chromatin interactions
ENSG00000164985	chromatin interactions

Extended variants
information (count: 1389 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1389 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186557015	chr9:15379796-15379797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114217143	chr9:15379799-15379800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547939155	chr9:15379808-15379809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7046071	chr9:15379812-15379813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149946414	chr9:15379864-15379865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370904500	chr9:15379870-15379871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566931406	chr9:15379888-15379889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537399631	chr9:15379889-15379890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201154725	chr9:15379913-15379914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367706709	chr9:15379938-15379939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201855729	chr9:15379946-15379947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549630847	chr9:15379959-15379960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571287023	chr9:15379964-15379965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538490886	chr9:15379987-15379988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191062230	chr9:15379994-15379995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57926347	chr9:15380051-15380052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7026704	chr9:15380085-15380086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368320948	chr9:15380106-15380107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554864096	chr9:15380116-15380117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180965723	chr9:15380120-15380121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114180586	chr9:15380139-15380140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144176490	chr9:15380189-15380190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186087906	chr9:15380217-15380218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560036279	chr9:15380220-15380221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189758119	chr9:15380221-15380222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10962009	chr9:15380225-15380226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7043086	chr9:15380249-15380250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7026963	chr9:15380256-15380257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531222324	chr9:15380278-15380279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199576185	chr9:15380292-15380293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148426061	chr9:15380316-15380317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12005336	chr9:15380346-15380347	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546125859	chr9:15380348-15380349	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547316798	chr9:15380401-15380402	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372038254	chr9:15380450-15380451	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78265819	chr9:15380502-15380503	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375205382	chr9:15380529-15380530	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73411031	chr9:15380530-15380531	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554926363	chr9:15380570-15380571	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1891847	chr9:15380657-15380658	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs183540643	chr9:15380691-15380692	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558892462	chr9:15380720-15380721	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542317476	chr9:15380728-15380729	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376116892	chr9:15380757-15380758	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1891848	chr9:15380767-15380768	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142406842	chr9:15380773-15380774	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187725714	chr9:15380775-15380776	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371617443	chr9:15380776-15380777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77370866	chr9:15380794-15380795	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531351443	chr9:15380816-15380817	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15378200-15380000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:15380000-15381000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:15380600-15380800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:15386200-15386600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:15386200-15387000	Enhancers	K562	blood
6	chr9:15387000-15389200	Weak transcription	K562	blood
7	chr9:15387400-15388000	Enhancers	Fetal Intestine Small	intestine
8	chr9:15387400-15393800	Enhancers	Fetal Intestine Large	intestine
9	chr9:15388000-15388400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:15388400-15394200	Enhancers	Fetal Intestine Small	intestine
11	chr9:15389000-15389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:15389000-15389800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:15389000-15389800	Enhancers	Colonic Mucosa	Colon
14	chr9:15389000-15389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:15389200-15389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:15389200-15389800	Enhancers	K562	blood
17	chr9:15389200-15390800	Enhancers	Fetal Kidney	kidney
18	chr9:15389200-15391000	Enhancers	Duodenum Mucosa	Duodenum
19	chr9:15389400-15391400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr9:15389600-15389800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr9:15389800-15390400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:15389800-15390800	Weak transcription	Colonic Mucosa	Colon
23	chr9:15389800-15391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:15390200-15390800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:15390200-15391200	Enhancers	HepG2	liver
26	chr9:15390400-15390800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr9:15390600-15391000	Enhancers	Stomach Mucosa	stomach
28	chr9:15390800-15391200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr9:15390800-15391800	Enhancers	Colonic Mucosa	Colon
30	chr9:15391000-15391200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr9:15391000-15391400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:15391200-15391600	Enhancers	Duodenum Mucosa	Duodenum
33	chr9:15391200-15391800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr9:15391400-15392600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:15391400-15400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:15391600-15392600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:15391800-15392200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:15391800-15392400	Weak transcription	Colonic Mucosa	Colon
39	chr9:15392200-15393400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr9:15392400-15393000	Enhancers	Colonic Mucosa	Colon
41	chr9:15392600-15392800	Enhancers	Duodenum Mucosa	Duodenum
42	chr9:15392600-15392800	Enhancers	Stomach Mucosa	stomach
43	chr9:15392600-15393400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr9:15400000-15401400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:15400000-15402000	Enhancers	Fetal Intestine Large	intestine
46	chr9:15400000-15402000	Enhancers	Fetal Intestine Small	intestine
47	chr9:15400200-15401600	Enhancers	Fetal Kidney	kidney
48	chr9:15400200-15402200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr9:15400400-15401000	Enhancers	Duodenum Mucosa	Duodenum
50	chr9:15400400-15401400	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links