Variant report

Variant	nsv970997
Chromosome Location	chr7:39837441-39839303
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	chr7:39837834-39837963	K562	blood:	n/a	n/a
2	BHLHE40	chr7:39837820-39837975	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:39839062-39839260	K562	blood:	n/a	n/a
4	CTCF	chr7:39837759-39837805	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:39838314-39838344	GM13976	blood:	n/a	n/a
6	CTCF	chr7:39837755-39837807	Pancreas_OC	pancreas:	n/a	chr7:39837755-39837764
7	CTCF	chr7:39837700-39837850	HepG2	liver:	n/a	chr7:39837749-39837767 chr7:39837755-39837764 chr7:39837751-39837764
8	FOSL2	chr7:39837204-39837517	HepG2	liver:	n/a	n/a
9	FOSL2	chr7:39837633-39838195	HepG2	liver:	n/a	n/a
10	HEY1	chr7:39837702-39838076	HepG2	liver:	n/a	n/a
11	JUND	chr7:39837897-39838052	HepG2	liver:	n/a	n/a
12	JUND	chr7:39837684-39838059	HepG2	liver:	n/a	n/a
13	MAFF	chr7:39837662-39837961	HepG2	liver:	n/a	chr7:39837782-39837796
14	MAFK	chr7:39837657-39837935	HepG2	liver:	n/a	chr7:39837778-39837793 chr7:39837779-39837799 chr7:39837782-39837796
15	MAFK	chr7:39837654-39837965	HepG2	liver:	n/a	chr7:39837778-39837793 chr7:39837779-39837799 chr7:39837932-39837948 chr7:39837782-39837796 chr7:39837932-39837943 chr7:39837933-39837944
16	MAFK	chr7:39837718-39837874	H1-hESC	embryonic stem cell:	n/a	chr7:39837778-39837793 chr7:39837779-39837799 chr7:39837782-39837796
17	PBX3	chr7:39837756-39837875	GM12878	blood:	n/a	chr7:39837826-39837835
18	POLR2A	chr7:39837704-39838099	GM12891	blood:	n/a	n/a
19	POLR2A	chr7:39837591-39838191	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:39837735-39838083	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:39837686-39838078	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:39837909-39838152	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:39837619-39838130	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:39837702-39838114	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:39837608-39838189	GM12892	blood:	n/a	n/a
26	POLR2A	chr7:39837340-39837532	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:39837664-39838097	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:39837673-39837736	GM12878	blood:	n/a	n/a
29	RFX5	chr7:39837759-39837920	HepG2	liver:	n/a	chr7:39837836-39837845 chr7:39837832-39837847
30	RXRA	chr7:39837720-39838064	HepG2	liver:	n/a	chr7:39837747-39837767 chr7:39837865-39837881
31	SP1	chr7:39837659-39838083	HepG2	liver:	n/a	n/a
32	USF1	chr7:39837659-39838026	HepG2	liver:	n/a	chr7:39837845-39837856
33	USF1	chr7:39837720-39837930	K562	blood:	n/a	chr7:39837845-39837856
34	USF1	chr7:39837722-39837944	HepG2	liver:	n/a	chr7:39837845-39837856
35	USF2	chr7:39837841-39837851	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39837692-39837742	SK-N-SH	brain:	n/a
2	chr7:39837692-39837742	SK-N-SH	brain:	n/a
3	chr7:39837692-39837742	HCM	heart:	n/a
4	chr7:39837692-39837742	HRCEpiC	kidney:	n/a
5	chr7:39837692-39837742	CMK	blood:	n/a
6	chr7:39837692-39837742	AoSMC	blood vessel:	n/a
7	chr7:39837692-39837742	HUVEC	blood vessel:	n/a
8	chr7:39837692-39837742	BE2_C	brain:	n/a
9	chr7:39837692-39837742	MCF-7	breast:	n/a
10	chr7:39837692-39837742	HNPCEpiC	eye:	n/a
11	chr7:39837692-39837742	SK-N-SH_RA	brain:	n/a
12	chr7:39837692-39837742	AG10803	skin:	n/a
13	chr7:39837692-39837742	Jurkat	blood:	n/a
14	chr7:39837692-39837742	AG09319	gingival:	n/a
15	chr7:39837692-39837742	HEEpiC	esophagus:	n/a
16	chr7:39837692-39837742	Caco-2	colon:	n/a
17	chr7:39837692-39837742	ProgFib	skin:	n/a
18	chr7:39837692-39837742	Hela-S3	cervix:	n/a
19	chr7:39837692-39837742	SKMC	muscle:	n/a
20	chr7:39837692-39837742	HIPEpiC	eye:	n/a
21	chr7:39837692-39837742	HAEpiC	amniotic membrane:	n/a
22	chr7:39837692-39837742	AG04449	skin:	fetal
23	chr7:39837692-39837742	AG09309	skin:	n/a
24	chr7:39837692-39837742	NH-A	brain:	n/a
25	chr7:39837692-39837742	A549	lung:	n/a
26	chr7:39837692-39837742	T-47D	breast:	n/a
27	chr7:39837692-39837742	BJ	skin:	n/a
28	chr7:39837692-39837742	ECC-1	luminal epithelium:	n/a
29	chr7:39837692-39837742	LNCaP	prostate:	n/a
30	chr7:39837692-39837742	SK-N-MC	brain:	n/a
31	chr7:39837692-39837742	HCF	heart:	n/a
32	chr7:39837692-39837742	GM12891	blood:	n/a
33	chr7:39837692-39837742	HMEC	breast:	n/a
34	chr7:39837692-39837742	H1-hESC	embryonic stem cell:	embryo
35	chr7:39837692-39837742	HRPEpiC	eye:	n/a
36	chr7:39837692-39837742	HCT-116	colon:	n/a
37	chr7:39837692-39837742	GM12878	blood:	n/a
38	chr7:39837692-39837742	HCPEpiC	choroid plexus:	n/a
39	chr7:39837692-39837742	NT2-D1	testis:	n/a
40	chr7:39837692-39837742	U87	brain:	n/a
41	chr7:39837692-39837742	GM12892	blood:	n/a
42	chr7:39837692-39837742	GM06990	blood:	n/a
43	chr7:39837692-39837742	NHDF-neo	bronchial:	n/a
44	chr7:39837692-39837742	SAEC	small airway:	n/a
45	chr7:39837692-39837742	GM19239	blood:	n/a
46	chr7:39837692-39837742	IMR90	lung:	fetal
47	chr7:39837692-39837742	HEK293	kidney:	embryo
48	chr7:39837692-39837742	NHBE	bronchial:	n/a
49	chr7:39837692-39837742	HRE	kidney:	n/a
50	chr7:39837692-39837742	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
CICP22	TF binding region
CICP22	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13309827	chr7:39837450-39837451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562543692	chr7:39837457-39837458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542746171	chr7:39837477-39837478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13310242	chr7:39837485-39837486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533107793	chr7:39837489-39837490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13310015	chr7:39837522-39837523	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528119288	chr7:39837550-39837551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13309886	chr7:39837553-39837554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547747648	chr7:39837555-39837556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182668252	chr7:39837587-39837588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13310297	chr7:39837609-39837610	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs13310302	chr7:39837635-39837636	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs13310063	chr7:39837643-39837644	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs13310308	chr7:39837669-39837670	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533310494	chr7:39837674-39837675	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186674273	chr7:39837681-39837682	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190714128	chr7:39837691-39837692	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs13309988	chr7:39837719-39837720	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13310363	chr7:39837730-39837731	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs141196400	chr7:39837734-39837735	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs13309995	chr7:39837736-39837737	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs555857896	chr7:39837767-39837768	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182679741	chr7:39837786-39837787	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549288873	chr7:39837816-39837817	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs13310041	chr7:39837842-39837843	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs115689203	chr7:39837849-39837850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs187673457	chr7:39837851-39837852	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs577999604	chr7:39837872-39837873	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs190711714	chr7:39837920-39837921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs183276115	chr7:39837953-39837954	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs137907293	chr7:39837959-39837960	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573913401	chr7:39838035-39838036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542337785	chr7:39838042-39838043	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559422400	chr7:39838073-39838074	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143374390	chr7:39838097-39838098	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs545339544	chr7:39838114-39838115	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560458905	chr7:39838140-39838141	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545001745	chr7:39838141-39838142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs28393406	chr7:39838168-39838169	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs28560404	chr7:39838259-39838260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6970155	chr7:39838277-39838278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369831561	chr7:39838315-39838316	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs79142010	chr7:39838325-39838326	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs28377439	chr7:39838352-39838353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187347260	chr7:39838360-39838361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28419448	chr7:39838382-39838383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183908137	chr7:39838419-39838420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569891757	chr7:39838447-39838448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188408785	chr7:39838461-39838462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6970816	chr7:39838462-39838463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39812400-39837600	Weak transcription	Spleen	Spleen
2	chr7:39821400-39839000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:39831000-39839800	Weak transcription	Right Ventricle	heart
4	chr7:39831400-39838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:39831800-39837600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:39831800-39838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:39831800-39838800	Weak transcription	Ovary	ovary
8	chr7:39832000-39837600	Weak transcription	Pancreas	Pancrea
9	chr7:39833200-39838200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:39833200-39842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:39833400-39837600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:39833600-39837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:39833600-39838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:39833600-39839000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:39833600-39845000	Weak transcription	Esophagus	oesophagus
16	chr7:39834200-39837600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:39836000-39837600	Weak transcription	Fetal Intestine Small	intestine
18	chr7:39836000-39839000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:39837400-39838200	Enhancers	Fetal Intestine Large	intestine
20	chr7:39837600-39837800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:39837600-39837800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:39837600-39837800	Enhancers	Pancreas	Pancrea
23	chr7:39837600-39837800	Active TSS	Spleen	Spleen
24	chr7:39837600-39838200	Enhancers	Fetal Intestine Small	intestine
25	chr7:39837800-39838000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:39838200-39841800	Weak transcription	Fetal Intestine Small	intestine
27	chr7:39838200-39846200	Weak transcription	Fetal Intestine Large	intestine
28	chr7:39839000-39839200	Enhancers	Brain Substantia Nigra	brain
29	chr7:39839000-39839200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:39839000-39839400	Enhancers	Primary monocytes fromperipheralblood	blood

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