Variant report

Variant	nsv1015332
Chromosome Location	chr9:2235123-2361722
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:36)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
2	chr9:2226247..2228750-chr9:2234155..2236078,2	MCF-7	breast:
3	chr9:2256748..2259220-chr9:2292192..2293911,2	MCF-7	breast:
4	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
5	chr9:2257367..2260216-chr9:2810940..2813820,2	MCF-7	breast:
6	chr9:2229721..2232093-chr9:2241469..2243158,2	MCF-7	breast:
7	chr9:2242145..2244162-chr9:2246197..2248614,2	MCF-7	breast:
8	chr9:2231807..2233920-chr9:2241447..2243691,2	MCF-7	breast:
9	chr9:2240721..2243292-chr9:2621569..2623384,2	MCF-7	breast:
10	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
11	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
12	chr9:2229879..2232148-chr9:2238435..2240178,2	K562	blood:
13	chr9:2290959..2293717-chr9:2295989..2299437,4	MCF-7	breast:
14	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
15	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
16	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
17	chr9:2232135..2233681-chr9:2242107..2243678,2	MCF-7	breast:
18	chr9:2290959..2293717-chr9:2295989..2299437,4	MCF-7	breast:
19	chr9:2292225..2294051-chr9:2294141..2297013,2	MCF-7	breast:
20	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
21	chr9:2256748..2259220-chr9:2292192..2293911,2	MCF-7	breast:
22	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
23	chr9:2292225..2294051-chr9:2294141..2297013,2	MCF-7	breast:
24	chr9:2244966..2246945-chr9:2263682..2266605,2	MCF-7	breast:
25	chr9:2244966..2246945-chr9:2263682..2266605,2	MCF-7	breast:
26	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
27	chr9:2016060..2018467-chr9:2241276..2243249,2	K562	blood:
28	chr9:2255030..2255773-chr9:2600478..2601011,2	MCF-7	breast:
29	chr9:2291871..2293597-chr9:2622079..2623974,2	MCF-7	breast:
30	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
31	chr9:2242145..2244162-chr9:2246197..2248614,2	MCF-7	breast:
32	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
33	chr9:2243537..2246838-chr9:2247520..2250621,4	MCF-7	breast:
34	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
35	chr9:2243537..2246838-chr9:2247520..2250621,4	MCF-7	breast:
36	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:

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

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

No data

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

Extended variants
information (count: 6391 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:6391 , 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	rs540255388	chr9:2235176-2235177	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs560063449	chr9:2235183-2235184	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs528869224	chr9:2235192-2235193	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs549679051	chr9:2235199-2235200	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs565859956	chr9:2235205-2235206	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs534887350	chr9:2235206-2235207	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs569448021	chr9:2235255-2235256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs531974496	chr9:2235262-2235263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs551518465	chr9:2235264-2235265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571410286	chr9:2235285-2235286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs149375205	chr9:2235302-2235303	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs553765474	chr9:2235328-2235329	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs547173267	chr9:2235348-2235349	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs536227636	chr9:2235380-2235381	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs184552029	chr9:2235391-2235392	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs565477946	chr9:2235400-2235401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs189292495	chr9:2235408-2235409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148082303	chr9:2235412-2235413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557959093	chr9:2235415-2235416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201217481	chr9:2235416-2235417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540367491	chr9:2235434-2235435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35556197	chr9:2235449-2235450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369189118	chr9:2235454-2235455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112171819	chr9:2235466-2235467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76545897	chr9:2235472-2235473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143846753	chr9:2235488-2235489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372739296	chr9:2235493-2235494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34652227	chr9:2235495-2235496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192885410	chr9:2235561-2235562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10965304	chr9:2235599-2235600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78722622	chr9:2235637-2235638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369386333	chr9:2235645-2235646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547894752	chr9:2235646-2235647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561649000	chr9:2235659-2235660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79136940	chr9:2235664-2235665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7863814	chr9:2235668-2235669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536679144	chr9:2235684-2235685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556241956	chr9:2235721-2235722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184948135	chr9:2235737-2235738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538106264	chr9:2235746-2235747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139769967	chr9:2235749-2235750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377482975	chr9:2235774-2235775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117887236	chr9:2235793-2235794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188933817	chr9:2235842-2235843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369126792	chr9:2235844-2235845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566990248	chr9:2235876-2235877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553872582	chr9:2235969-2235970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540097736	chr9:2235988-2235989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113313756	chr9:2235989-2235990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114947872	chr9:2236013-2236014	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:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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	chr9:2231200-2235600	Enhancers	Fetal Stomach	stomach
5	chr9:2231400-2235800	Enhancers	Fetal Heart	heart
6	chr9:2231600-2235600	Enhancers	Colon Smooth Muscle	Colon
7	chr9:2233600-2235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:2233600-2235600	Enhancers	Ovary	ovary
9	chr9:2233600-2235600	Enhancers	HSMMtube	muscle
10	chr9:2233600-2235800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:2233800-2235400	Enhancers	Fetal Muscle Trunk	muscle
12	chr9:2233800-2235400	Enhancers	Fetal Muscle Leg	muscle
13	chr9:2233800-2235600	Enhancers	Fetal Brain Male	brain
14	chr9:2233800-2236200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:2234000-2235400	Enhancers	HSMM	muscle
16	chr9:2234200-2235200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:2234200-2235200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:2234200-2235200	Enhancers	NHEK	skin
19	chr9:2234200-2235600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:2234200-2235600	Enhancers	Fetal Lung	lung
21	chr9:2234400-2235200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:2234400-2235200	Enhancers	Brain Anterior Caudate	brain
23	chr9:2234400-2235200	Enhancers	Fetal Brain Female	brain
24	chr9:2234400-2235200	Enhancers	Placenta	Placenta
25	chr9:2234400-2235200	Enhancers	Right Ventricle	heart
26	chr9:2234400-2235400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:2234400-2235400	Enhancers	Esophagus	oesophagus
28	chr9:2234400-2235400	Enhancers	Psoas Muscle	Psoas
29	chr9:2234400-2235600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:2234400-2235600	Enhancers	Fetal Kidney	kidney
31	chr9:2234400-2235600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr9:2234400-2235600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr9:2234400-2236000	Enhancers	Left Ventricle	heart
34	chr9:2234600-2235400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:2234600-2235400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:2234600-2235400	Enhancers	Right Atrium	heart
37	chr9:2234800-2235200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:2234800-2235400	Enhancers	Rectal Smooth Muscle	rectum
39	chr9:2234800-2237000	Weak transcription	Brain Germinal Matrix	brain
40	chr9:2235000-2235400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:2235000-2235600	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:2235000-2237000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:2235000-2239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:2235000-2240200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:2235000-2241200	Weak transcription	HMEC	breast
46	chr9:2235200-2235400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:2235200-2239600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:2235200-2239800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:2235200-2240200	Weak transcription	Fetal Brain Female	brain
50	chr9:2235200-2241200	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links