Variant report

Variant	nsv892063
Chromosome Location	chr9:2291635-2419538
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:23)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
2	chr9:2292225..2294051-chr9:2294141..2297013,2	MCF-7	breast:
3	chr9:2256748..2259220-chr9:2292192..2293911,2	MCF-7	breast:
4	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
5	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
6	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
7	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
8	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
9	chr9:2290959..2293717-chr9:2295989..2299437,4	MCF-7	breast:
10	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
11	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
12	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
13	chr9:2291871..2293597-chr9:2622079..2623974,2	MCF-7	breast:
14	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
15	chr9:2292225..2294051-chr9:2294141..2297013,2	MCF-7	breast:
16	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
17	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
18	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
19	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
20	chr9:2290959..2293717-chr9:2295989..2299437,4	MCF-7	breast:
21	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
22	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
23	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-6	chr9:2291976-2293037	NONHSAT129989
2	lnc-KIAA0020-1	chr9:2415397-2415540	l_3727_chr9:2411588-2611526_ovary
3	lnc-VLDLR-2	chr9:2408820-2408888	XLOC_007266
4	lnc-VLDLR-2	chr9:2390027-2390054	XLOC_007266
5	lnc-KIAA0020-1	chr9:2411589-2414510	l_3727_chr9:2411588-2611526_ovary

No data

Variant related genes	Relation type
ENSG00000147852	chromatin interactions
ENSG00000236404	chromatin interactions

Extended variants
information (count: 5570 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:5570 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs744216	chr9:2291635-2291636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113635462	chr9:2291646-2291647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545697861	chr9:2291744-2291745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539178492	chr9:2291770-2291771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73641027	chr9:2291773-2291774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148657206	chr9:2291788-2291789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541219606	chr9:2291871-2291872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76136944	chr9:2291920-2291921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7847378	chr9:2291936-2291937	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549981074	chr9:2291943-2291944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563718425	chr9:2291945-2291946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532364285	chr9:2291951-2291952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376075941	chr9:2291960-2291961	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181114724	chr9:2291988-2291989	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs114843135	chr9:2292026-2292027	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs527523941	chr9:2292038-2292039	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs547599146	chr9:2292089-2292090	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs557811244	chr9:2292097-2292098	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs147414322	chr9:2292139-2292140	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs73641028	chr9:2292148-2292149	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10965465	chr9:2292189-2292190	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs569641154	chr9:2292190-2292191	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs538197924	chr9:2292216-2292217	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs558866440	chr9:2292247-2292248	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs566623099	chr9:2292257-2292258	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs7850693	chr9:2292279-2292280	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145178934	chr9:2292281-2292282	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs552382534	chr9:2292282-2292283	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs555168817	chr9:2292308-2292309	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs147559845	chr9:2292309-2292310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs372747997	chr9:2292377-2292378	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs377413667	chr9:2292413-2292414	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs532586063	chr9:2292461-2292462	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs370910150	chr9:2292479-2292480	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs12337564	chr9:2292493-2292494	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs571042057	chr9:2292530-2292531	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs16938272	chr9:2292596-2292597	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	mRNA abundance
38	rs149838527	chr9:2292597-2292598	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs547685188	chr9:2292689-2292690	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs567468433	chr9:2292695-2292696	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs529807971	chr9:2292746-2292747	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs549848836	chr9:2292759-2292760	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs569644588	chr9:2292813-2292814	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs34886502	chr9:2292814-2292815	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs550421496	chr9:2292819-2292820	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs191456177	chr9:2292837-2292838	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs558111574	chr9:2292879-2292880	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs145875771	chr9:2292894-2292895	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs115127869	chr9:2292907-2292908	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs554925218	chr9:2292922-2292923	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2282600-2291800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:2285000-2292000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:2286000-2295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:2286800-2292000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:2286800-2293600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:2287000-2293600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:2287200-2294000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:2287800-2292000	Weak transcription	Fetal Intestine Large	intestine
9	chr9:2288000-2298800	Weak transcription	Pancreas	Pancrea
10	chr9:2288200-2292000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:2288600-2296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:2289400-2292600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:2289400-2293600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:2289600-2298800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:2290400-2292800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:2290600-2292000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:2290800-2291800	Weak transcription	Adipose Nuclei	Adipose
18	chr9:2290800-2292000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:2290800-2295600	Weak transcription	Esophagus	oesophagus
20	chr9:2291200-2292800	Enhancers	Psoas Muscle	Psoas
21	chr9:2291200-2293600	Enhancers	Placenta	Placenta
22	chr9:2291400-2291800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:2291400-2292000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:2291600-2292200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:2291600-2292400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:2291600-2292400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:2291600-2292800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:2291600-2292800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:2291600-2293600	Enhancers	HSMMtube	muscle
30	chr9:2291800-2292200	Enhancers	Adipose Nuclei	Adipose
31	chr9:2291800-2292200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:2291800-2292400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:2291800-2292400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:2291800-2292400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:2291800-2292800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:2291800-2292800	Enhancers	NHEK	skin
37	chr9:2291800-2293000	Enhancers	HMEC	breast
38	chr9:2291800-2293600	Enhancers	Stomach Mucosa	stomach
39	chr9:2292000-2292200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr9:2292000-2292400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:2292000-2292400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:2292000-2292400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:2292000-2292400	Enhancers	Brain Germinal Matrix	brain
44	chr9:2292000-2292400	Enhancers	Fetal Intestine Large	intestine
45	chr9:2292000-2292600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:2292000-2292800	Enhancers	Fetal Intestine Small	intestine
47	chr9:2292000-2292800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr9:2292000-2292800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:2292000-2293000	Enhancers	Fetal Lung	lung
50	chr9:2292000-2293000	Enhancers	HSMM	muscle

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