Variant report

Variant	nsv1048179
Chromosome Location	chr9:104719636-104847391
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	BHLHE40	chr9:104808797-104808879	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr9:104770107-104770211	A549	lung:	n/a	n/a
4	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
5	CEBPB	chr9:104757408-104758008	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
7	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr9:104725632-104725661	HepG2	liver:	n/a	chr9:104725637-104725648
9	CEBPB	chr9:104726861-104727114	A549	lung:	n/a	chr9:104726984-104726995 chr9:104727014-104727025
10	CEBPB	chr9:104726921-104727121	HepG2	liver:	n/a	chr9:104726984-104726995 chr9:104727014-104727025
11	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
13	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
14	CTCF	chr9:104740380-104740530	A549	lung:	n/a	n/a
15	CTCF	chr9:104722140-104722290	HEK293	kidney:	n/a	chr9:104722218-104722239
16	CTCF	chr9:104739980-104740130	GM06990	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
17	CTCF	chr9:104740040-104740190	GM12873	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
18	CTCF	chr9:104739740-104739890	HCFaa	heart:	n/a	n/a
19	CTCF	chr9:104739900-104740050	BE2_C	brain:	n/a	n/a
20	CTCF	chr9:104740000-104740150	GM12865	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
21	CTCF	chr9:104739960-104740164	GM10266	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
22	CTCF	chr9:104739984-104740206	GM12878	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
23	CTCF	chr9:104739960-104740110	RPTEC	kidney:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
24	CTCF	chr9:104740020-104740170	HFF	foreskin:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
25	CTCF	chr9:104740040-104740190	NHEK	skin:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
26	CTCF	chr9:104740040-104740190	SK-N-SH_RA	brain:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
27	CTCF	chr9:104722167-104722282	LNCaP	prostate:	n/a	chr9:104722218-104722239
28	CTCF	chr9:104740020-104740170	WERI-Rb-1	eye:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
29	CTCF	chr9:104740020-104740170	GM12874	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
30	CTCF	chr9:104735240-104735390	RPTEC	kidney:	n/a	chr9:104735240-104735253
31	CTCF	chr9:104735200-104735350	MCF-7	breast:	n/a	chr9:104735238-104735256 chr9:104735240-104735253
32	CTCF	chr9:104740040-104740190	AG04450	lung:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
33	CTCF	chr9:104756340-104756490	GM12874	blood:	n/a	n/a
34	CTCF	chr9:104740020-104740170	HCFaa	heart:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
35	CTCF	chr9:104739998-104740163	Hela-S3	cervix:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
36	CTCF	chr9:104739982-104740173	GM20000	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
37	CTCF	chr9:104740760-104740910	GM12873	blood:	n/a	n/a
38	CTCF	chr9:104739980-104740130	HCT-116	colon:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
39	CTCF	chr9:104808787-104808821	ProgFib	skin:	n/a	n/a
40	CTCF	chr9:104740020-104740170	GM12868	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
41	CTCF	chr9:104739980-104740130	WERI-Rb-1	eye:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
42	CTCF	chr9:104740000-104740150	AoAF	blood vessel:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
43	CTCF	chr9:104739893-104740201	HepG2	liver:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
44	CTCF	chr9:104740020-104740170	HA-sp	spinal cord:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
45	CTCF	chr9:104739960-104740110	Caco-2	colon:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
46	CTCF	chr9:104739972-104740232	K562	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
47	CTCF	chr9:104739980-104740130	BJ	skin:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
48	CTCF	chr9:104739884-104740362	IMR90	lung:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
49	CTCF	chr9:104740340-104740490	HCM	heart:	n/a	n/a
50	CTCF	chr9:104739953-104740186	Pancreas_OC	pancreas:	n/a	chr9:104740080-104740101 chr9:104740079-104740095

No.	Distal block	Cell Line	Cell type
1	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
2	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
3	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
4	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
5	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
6	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
7	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
8	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
9	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
10	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
11	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
12	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
13	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
14	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
15	chr9:104554048..104554859-chr9:104734774..104735456,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-7	chr9:104811295-104811420	NONHSAT133754
2	lnc-GRIN3A-2	chr9:104817534-104818023	NONHSAT133755
3	lnc-C9orf107-7	chr9:104810504-104810756	NONHSAT133754

Variant related genes	Relation type
ARL2BPP7	TF binding region

Extended variants
information (count: 1826 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1826 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542836944	chr9:104728400-104728401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370833527	chr9:104728401-104728402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576941635	chr9:104728414-104728415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539355997	chr9:104728442-104728443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552810034	chr9:104728449-104728450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76947553	chr9:104728478-104728479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142156743	chr9:104728482-104728483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572793701	chr9:104728510-104728511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571598065	chr9:104728534-104728535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541077268	chr9:104728548-104728549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77764846	chr9:104728568-104728569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142593079	chr9:104728616-104728617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543861016	chr9:104728618-104728619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191962193	chr9:104728635-104728636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532690439	chr9:104728660-104728661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58660142	chr9:104728679-104728680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146006384	chr9:104728761-104728762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539710418	chr9:104728776-104728777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557799410	chr9:104728812-104728813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373097971	chr9:104728837-104728838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543234225	chr9:104728867-104728868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1007468	chr9:104728905-104728906	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs528791927	chr9:104728918-104728919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548241778	chr9:104728960-104728961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141864267	chr9:104728970-104728971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184222377	chr9:104729000-104729001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550605525	chr9:104729032-104729033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144201965	chr9:104729077-104729078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539662472	chr9:104729134-104729135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552748710	chr9:104729161-104729162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148730495	chr9:104729220-104729221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370958722	chr9:104729221-104729222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535345422	chr9:104729256-104729257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10989732	chr9:104729280-104729281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371579284	chr9:104729294-104729295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142332518	chr9:104729295-104729296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371940547	chr9:104729310-104729311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112006374	chr9:104729322-104729323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561461803	chr9:104729324-104729325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574745375	chr9:104729326-104729327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188327511	chr9:104729361-104729362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557384397	chr9:104729437-104729438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577255839	chr9:104729464-104729465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191954909	chr9:104729518-104729519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540918495	chr9:104729531-104729532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114693009	chr9:104729539-104729540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542513784	chr9:104729554-104729555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182820678	chr9:104729558-104729559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139345948	chr9:104729565-104729566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74393882	chr9:104729572-104729573	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104728400-104729400	Enhancers	Fetal Heart	heart
2	chr9:104729200-104729800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:104729200-104729800	Enhancers	Fetal Muscle Leg	muscle
4	chr9:104738200-104739200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:104739600-104739800	Enhancers	Fetal Heart	heart
6	chr9:104739800-104740400	Weak transcription	Fetal Heart	heart
7	chr9:104740200-104740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:104740400-104740600	Enhancers	Fetal Heart	heart
9	chr9:104740600-104742800	Weak transcription	Fetal Heart	heart
10	chr9:104742800-104744200	Enhancers	Fetal Heart	heart
11	chr9:104743000-104743800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:104756000-104758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:104756400-104758200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:104756400-104758200	Enhancers	NH-A	brain
15	chr9:104757200-104757600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:104757400-104758000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:104758800-104759000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:104758800-104759000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr9:104759200-104759400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr9:104759400-104760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:104760000-104761400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:104761400-104764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr9:104761600-104762600	Enhancers	Fetal Heart	heart
24	chr9:104762600-104765800	Weak transcription	Fetal Heart	heart
25	chr9:104764400-104764600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:104765800-104766000	Active TSS	Fetal Heart	heart
27	chr9:104770400-104770600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr9:104779800-104780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:104797000-104797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:104798200-104798400	Enhancers	Liver	Liver
31	chr9:104808600-104808800	Enhancers	Gastric	stomach
32	chr9:104808600-104808800	ZNF genes & repeats	Pancreas	Pancrea
33	chr9:104808600-104808800	Enhancers	Psoas Muscle	Psoas
34	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
35	chr9:104810000-104811600	Enhancers	Dnd41	blood
36	chr9:104811000-104812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:104811600-104812600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:104811600-104812600	Flanking Active TSS	Dnd41	blood
39	chr9:104811800-104812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:104811800-104812200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:104812000-104812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr9:104812000-104812200	Active TSS	Adipose Nuclei	Adipose
43	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:104812000-104812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:104812000-104812400	Active TSS	Liver	Liver
47	chr9:104812000-104812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:104812000-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:104812200-104812400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr9:104812200-104812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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