Variant report

Variant	nsv831494
Chromosome Location	chr9:3007268-3172056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:3150159-3150316	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:3151777-3152598	HepG2	liver:	n/a	n/a
3	ATF2	chr9:3032977-3033245	GM12878	blood:	n/a	n/a
4	ATF2	chr9:3032872-3033291	GM12878	blood:	n/a	n/a
5	BATF	chr9:3032883-3033333	GM12878	blood:	n/a	n/a
6	BATF	chr9:3032986-3033270	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:3032888-3033295	GM12878	blood:	n/a	n/a
8	BHLHE40	chr9:3039378-3039580	K562	blood:	n/a	n/a
9	BRCA1	chr9:3039382-3039534	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr9:3073580-3073780	A549	lung:	n/a	chr9:3073648-3073659 chr9:3073622-3073633
11	CEBPB	chr9:3100982-3101195	A549	lung:	n/a	chr9:3101069-3101082 chr9:3101069-3101080
12	CEBPB	chr9:3008262-3008399	HepG2	liver:	n/a	chr9:3008350-3008361
13	CEBPB	chr9:3007443-3007638	MCF-7	breast:	n/a	n/a
14	CEBPB	chr9:3008294-3008478	A549	lung:	n/a	chr9:3008350-3008361
15	CEBPB	chr9:3104444-3104652	HepG2	liver:	n/a	chr9:3104530-3104541 chr9:3104508-3104519
16	CEBPB	chr9:3100940-3101140	HepG2	liver:	n/a	chr9:3101069-3101082 chr9:3101069-3101080
17	CEBPB	chr9:3155717-3155852	HepG2	liver:	n/a	chr9:3155778-3155789
18	CEBPB	chr9:3076507-3076759	A549	lung:	n/a	chr9:3076611-3076622
19	CEBPB	chr9:3076452-3076712	IMR90	lung:	n/a	chr9:3076611-3076622
20	CEBPB	chr9:3037652-3037824	HepG2	liver:	n/a	chr9:3037739-3037750
21	CEBPB	chr9:3170823-3171156	Hela-S3	cervix:	n/a	chr9:3171102-3171115 chr9:3171029-3171040 chr9:3170829-3170840 chr9:3171029-3171042
22	CEBPB	chr9:3126137-3126460	HepG2	liver:	n/a	chr9:3126307-3126318
23	CEBPB	chr9:3126173-3126446	IMR90	lung:	n/a	chr9:3126307-3126318
24	CEBPB	chr9:3035662-3035958	A549	lung:	n/a	chr9:3035735-3035747
25	CEBPB	chr9:3120591-3120746	HepG2	liver:	n/a	chr9:3120682-3120693
26	CEBPB	chr9:3120588-3120776	IMR90	lung:	n/a	chr9:3120682-3120693
27	CEBPB	chr9:3076568-3076703	K562	blood:	n/a	chr9:3076611-3076622
28	CEBPB	chr9:3073535-3073772	HepG2	liver:	n/a	chr9:3073648-3073659 chr9:3073622-3073633
29	CEBPB	chr9:3043181-3043440	IMR90	lung:	n/a	n/a
30	CEBPB	chr9:3035636-3035931	H1-hESC	embryonic stem cell:	n/a	chr9:3035735-3035747
31	CEBPB	chr9:3035690-3035980	MCF-7	breast:	n/a	chr9:3035735-3035747
32	CEBPB	chr9:3076465-3076788	HepG2	liver:	n/a	chr9:3076611-3076622
33	CEBPB	chr9:3170691-3171059	A549	lung:	n/a	chr9:3171029-3171040 chr9:3170829-3170840 chr9:3171029-3171042
34	CEBPB	chr9:3170780-3170873	K562	blood:	n/a	chr9:3170829-3170840
35	CEBPB	chr9:3076572-3076646	H1-hESC	embryonic stem cell:	n/a	chr9:3076611-3076622
36	CEBPB	chr9:3087894-3088447	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr9:3100550-3100731	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr9:3170867-3171186	MCF-7	breast:	n/a	chr9:3171102-3171115 chr9:3171029-3171040 chr9:3171029-3171042
39	CEBPB	chr9:3012964-3013088	K562	blood:	n/a	n/a
40	CEBPB	chr9:3126342-3126432	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr9:3008250-3008503	HepG2	liver:	n/a	chr9:3008350-3008361
42	CEBPB	chr9:3137269-3137464	IMR90	lung:	n/a	chr9:3137373-3137384
43	CEBPB	chr9:3008205-3008561	MCF-7	breast:	n/a	chr9:3008350-3008361
44	CEBPB	chr9:3008178-3008480	H1-hESC	embryonic stem cell:	n/a	chr9:3008350-3008361
45	CEBPB	chr9:3039378-3039444	K562	blood:	n/a	n/a
46	CEBPB	chr9:3125851-3126031	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr9:3048009-3048274	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr9:3012906-3013154	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr9:3047995-3048234	IMR90	lung:	n/a	n/a
50	CEBPB	chr9:3125776-3126477	A549	lung:	n/a	chr9:3126307-3126318

No.	Distal block	Cell Line	Cell type
1	chr9:3004911..3007825-chr9:3008094..3010191,2	K562	blood:
2	chr9:3153271..3155559-chr9:3163455..3165401,2	K562	blood:
3	chr9:3004911..3007825-chr9:3008094..3010191,2	K562	blood:
4	chr9:3153271..3155559-chr9:3163455..3165401,2	K562	blood:
5	chr1:62477919..62478756-chr9:3062250..3062792,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV2-6	chr9:3171589-3171889	NONHSAT130016

Variant related genes	Relation type
CARM1P1	TF binding region

Extended variants
information (count: 4275 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:4275 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541973828	chr9:3007308-3007309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34774886	chr9:3007321-3007322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12342511	chr9:3007331-3007332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531079710	chr9:3007335-3007336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544220221	chr9:3007354-3007355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563919707	chr9:3007410-3007411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142665934	chr9:3007446-3007447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546725812	chr9:3007456-3007457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566525992	chr9:3007463-3007464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529121666	chr9:3007481-3007482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548869885	chr9:3007493-3007494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116605751	chr9:3007497-3007498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537728310	chr9:3007504-3007505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557372327	chr9:3007506-3007507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570504834	chr9:3007535-3007536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542363918	chr9:3007538-3007539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73387547	chr9:3007575-3007576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553055660	chr9:3007583-3007584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555355147	chr9:3007601-3007602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115220657	chr9:3007617-3007618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536064579	chr9:3007625-3007626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12342621	chr9:3007639-3007640	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575936484	chr9:3007642-3007643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145987116	chr9:3007660-3007661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561099963	chr9:3007666-3007667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193103714	chr9:3007672-3007673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577713716	chr9:3007708-3007709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546627613	chr9:3007726-3007727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566619939	chr9:3007736-3007737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79936510	chr9:3007749-3007750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75325668	chr9:3007787-3007788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59329194	chr9:3007800-3007801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184252264	chr9:3007873-3007874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532469850	chr9:3007918-3007919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142112332	chr9:3007952-3007953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531674295	chr9:3007956-3007957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551396663	chr9:3007986-3007987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571163705	chr9:3008011-3008012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551245508	chr9:3008016-3008017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189252137	chr9:3008017-3008018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10119404	chr9:3008020-3008021	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571445143	chr9:3008057-3008058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73639904	chr9:3008066-3008067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535572793	chr9:3008116-3008117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116292750	chr9:3008118-3008119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575756136	chr9:3008157-3008158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78205634	chr9:3008162-3008163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558508672	chr9:3008164-3008165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115494885	chr9:3008178-3008179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79019686	chr9:3008180-3008181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3003400-3008200	Weak transcription	Pancreas	Pancrea
2	chr9:3004200-3007800	Enhancers	Stomach Smooth Muscle	stomach
3	chr9:3004200-3008200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:3005200-3007600	Enhancers	Fetal Muscle Leg	muscle
5	chr9:3005200-3007600	Enhancers	Fetal Stomach	stomach
6	chr9:3005800-3007600	Enhancers	Ovary	ovary
7	chr9:3006400-3007400	Enhancers	Colon Smooth Muscle	Colon
8	chr9:3006400-3007400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr9:3006400-3007600	Enhancers	Fetal Heart	heart
10	chr9:3006400-3008000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:3006600-3007800	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:3006800-3007800	Enhancers	Stomach Mucosa	stomach
13	chr9:3006800-3008000	Enhancers	Fetal Lung	lung
14	chr9:3007000-3007600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:3007200-3018200	Weak transcription	Fetal Brain Male	brain
16	chr9:3007800-3013400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:3007800-3013800	Weak transcription	Stomach Mucosa	stomach
18	chr9:3008200-3008400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:3008400-3012400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:3010400-3010800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:3011600-3015000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr9:3012400-3012600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:3012400-3013000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr9:3012600-3013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:3012800-3013200	Enhancers	Adipose Nuclei	Adipose
26	chr9:3013200-3013400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:3013200-3018400	Weak transcription	Adipose Nuclei	Adipose
28	chr9:3013400-3013600	Enhancers	Stomach Smooth Muscle	stomach
29	chr9:3013400-3014000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:3013600-3014000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr9:3013800-3015200	Enhancers	Stomach Mucosa	stomach
32	chr9:3014000-3014200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:3014000-3014200	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:3014200-3018200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:3015000-3018200	Weak transcription	Fetal Lung	lung
36	chr9:3018000-3018200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:3018200-3018600	Enhancers	Fetal Lung	lung
38	chr9:3018200-3019200	Enhancers	Stomach Smooth Muscle	stomach
39	chr9:3018200-3019800	Enhancers	Fetal Brain Male	brain
40	chr9:3018400-3019200	Enhancers	Adipose Nuclei	Adipose
41	chr9:3018400-3019600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:3018600-3018800	Weak transcription	Fetal Lung	lung
43	chr9:3018600-3019600	Enhancers	Fetal Brain Female	brain
44	chr9:3018800-3019000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:3018800-3019000	Enhancers	Ovary	ovary
46	chr9:3018800-3019200	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:3018800-3019200	Enhancers	Fetal Lung	lung
48	chr9:3018800-3019200	Enhancers	Fetal Muscle Leg	muscle
49	chr9:3018800-3020000	Enhancers	Psoas Muscle	Psoas
50	chr9:3019200-3028000	Weak transcription	Adipose Nuclei	Adipose

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