Variant report

Variant	nsv613127
Chromosome Location	chr9:2237390-2363874
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:35)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2292225..2294051-chr9:2294141..2297013,2	MCF-7	breast:
2	chr9:2229721..2232093-chr9:2241469..2243158,2	MCF-7	breast:
3	chr9:2232135..2233681-chr9:2242107..2243678,2	MCF-7	breast:
4	chr9:2292225..2294051-chr9:2294141..2297013,2	MCF-7	breast:
5	chr9:2242145..2244162-chr9:2246197..2248614,2	MCF-7	breast:
6	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
7	chr9:2016060..2018467-chr9:2241276..2243249,2	K562	blood:
8	chr9:2231807..2233920-chr9:2241447..2243691,2	MCF-7	breast:
9	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
10	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
11	chr9:2255030..2255773-chr9:2600478..2601011,2	MCF-7	breast:
12	chr9:2256748..2259220-chr9:2292192..2293911,2	MCF-7	breast:
13	chr9:2243537..2246838-chr9:2247520..2250621,4	MCF-7	breast:
14	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
15	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
16	chr9:2290959..2293717-chr9:2295989..2299437,4	MCF-7	breast:
17	chr9:2240721..2243292-chr9:2621569..2623384,2	MCF-7	breast:
18	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
19	chr9:2244966..2246945-chr9:2263682..2266605,2	MCF-7	breast:
20	chr9:2242145..2244162-chr9:2246197..2248614,2	MCF-7	breast:
21	chr9:2229879..2232148-chr9:2238435..2240178,2	K562	blood:
22	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
23	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
24	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
25	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
26	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
27	chr9:2256748..2259220-chr9:2292192..2293911,2	MCF-7	breast:
28	chr9:2257367..2260216-chr9:2810940..2813820,2	MCF-7	breast:
29	chr9:2243537..2246838-chr9:2247520..2250621,4	MCF-7	breast:
30	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
31	chr9:2290959..2293717-chr9:2295989..2299437,4	MCF-7	breast:
32	chr9:2291871..2293597-chr9:2622079..2623974,2	MCF-7	breast:
33	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
34	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
35	chr9:2244966..2246945-chr9:2263682..2266605,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-5	chr9:2273475-2274167	NONHSAT129991
2	lnc-SMARCA2-5	chr9:2264485-2264628	NONHSAT129991
3	lnc-SMARCA2-6	chr9:2276007-2276253	NONHSAT129989
4	lnc-SMARCA2-6	chr9:2291976-2293037	NONHSAT129989
5	lnc-SMARCA2-6	chr9:2287708-2288332	NONHSAT129989

No data

Variant related genes	Relation type
ENSG00000080503	chromatin interactions
ENSG00000147852	chromatin interactions
ENSG00000236404	chromatin interactions

Extended variants
information (count: 6387 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:6387 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2376227	chr9:2237390-2237391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10119676	chr9:2237413-2237414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575039453	chr9:2237416-2237417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141438746	chr9:2237434-2237435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144048006	chr9:2237454-2237455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543374813	chr9:2237461-2237462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143945771	chr9:2237473-2237474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188585638	chr9:2237485-2237486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151294081	chr9:2237491-2237492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528521437	chr9:2237494-2237495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35656691	chr9:2237511-2237512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542197123	chr9:2237521-2237522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191948312	chr9:2237558-2237559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529952832	chr9:2237595-2237596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549585650	chr9:2237599-2237600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34678585	chr9:2237649-2237650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569551243	chr9:2237677-2237678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532154528	chr9:2237680-2237681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140568453	chr9:2237688-2237689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77552545	chr9:2237697-2237698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548531740	chr9:2237711-2237712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566929205	chr9:2237723-2237724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371515456	chr9:2237740-2237741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184416677	chr9:2237758-2237759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189066643	chr9:2237793-2237794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117306841	chr9:2237807-2237808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72691273	chr9:2237826-2237827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557669304	chr9:2237841-2237842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577539001	chr9:2237862-2237863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540032506	chr9:2237875-2237876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182354155	chr9:2237926-2237927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573248287	chr9:2237940-2237941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541117190	chr9:2237945-2237946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564111027	chr9:2237970-2237971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371774714	chr9:2237990-2237991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541860768	chr9:2238031-2238032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59854352	chr9:2238052-2238053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9657611	chr9:2238108-2238109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532966444	chr9:2238111-2238112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563239613	chr9:2238115-2238116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532214858	chr9:2238116-2238117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546716844	chr9:2238130-2238131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150419236	chr9:2238143-2238144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7847178	chr9:2238153-2238154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528164746	chr9:2238173-2238174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370489711	chr9:2238183-2238184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374324426	chr9:2238187-2238188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138230042	chr9:2238226-2238227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118020083	chr9:2238329-2238330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142317096	chr9:2238341-2238342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1338 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2223600-2240800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:2230000-2241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:2230200-2241200	Weak transcription	Stomach Mucosa	stomach
4	chr9:2235000-2239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:2235000-2240200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:2235000-2241200	Weak transcription	HMEC	breast
7	chr9:2235200-2239600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:2235200-2239800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:2235200-2240200	Weak transcription	Fetal Brain Female	brain
10	chr9:2235200-2241200	Weak transcription	NHEK	skin
11	chr9:2235200-2241400	Weak transcription	Right Ventricle	heart
12	chr9:2235400-2241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:2235400-2241200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:2235400-2241400	Weak transcription	Esophagus	oesophagus
15	chr9:2235400-2241400	Weak transcription	Psoas Muscle	Psoas
16	chr9:2235600-2239600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:2235600-2240000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:2235600-2240800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:2235600-2240800	Weak transcription	Fetal Brain Male	brain
20	chr9:2235600-2241000	Weak transcription	Fetal Lung	lung
21	chr9:2235600-2241000	Weak transcription	Fetal Stomach	stomach
22	chr9:2235600-2241400	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:2235800-2239800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:2235800-2241200	Weak transcription	Fetal Heart	heart
25	chr9:2236000-2241400	Weak transcription	Left Ventricle	heart
26	chr9:2236200-2241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:2237000-2237400	Enhancers	Brain Germinal Matrix	brain
28	chr9:2237000-2237600	Enhancers	Fetal Kidney	kidney
29	chr9:2237000-2238000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:2237000-2238600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:2237200-2237400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr9:2237400-2239400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:2237400-2241000	Weak transcription	Brain Germinal Matrix	brain
34	chr9:2237600-2241200	Weak transcription	Fetal Kidney	kidney
35	chr9:2238000-2242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:2238600-2241000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:2239400-2241400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr9:2239600-2240200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:2239600-2240400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:2239600-2240600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:2239800-2240000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr9:2239800-2240200	Enhancers	HepG2	liver
43	chr9:2239800-2240600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:2239800-2240800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:2239800-2240800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:2240000-2240400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:2240000-2241000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:2240000-2241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:2240200-2240400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:2240200-2240400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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