Variant report

Variant	esv2563049
Chromosome Location	chr7:136850762-136852698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:136851292-136851308	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:136851211-136851370	K562	blood:	n/a	chr7:136851307-136851316
3	CEBPB	chr7:136851161-136851454	IMR90	lung:	n/a	chr7:136851307-136851316

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:136850736-136850786	HCM	heart:	n/a
2	chr7:136850736-136850786	HEK293	kidney:	embryo
3	chr7:136850736-136850786	HEEpiC	esophagus:	n/a
4	chr7:136850736-136850786	K562	blood:	n/a
5	chr7:136850736-136850786	SK-N-MC	brain:	n/a
6	chr7:136850736-136850786	GM12891	blood:	n/a
7	chr7:136850736-136850786	HNPCEpiC	eye:	n/a
8	chr7:136850736-136850786	PrEC	prostate:	n/a
9	chr7:136850736-136850786	LNCaP	prostate:	n/a
10	chr7:136850736-136850786	PFSK-1	brain:	n/a
11	chr7:136850736-136850786	MCF10A-Er-Src	breast:	n/a
12	chr7:136850736-136850786	GM06990	blood:	n/a
13	chr7:136850736-136850786	HRPEpiC	eye:	n/a
14	chr7:136850736-136850786	BE2_C	brain:	n/a
15	chr7:136850736-136850786	HCPEpiC	choroid plexus:	n/a
16	chr7:136850736-136850786	BJ	skin:	n/a
17	chr7:136850736-136850786	Caco-2	colon:	n/a
18	chr7:136850736-136850786	HMEC	breast:	n/a
19	chr7:136850736-136850786	ovcar-3	ovarian:	n/a
20	chr7:136850736-136850786	NHBE	bronchial:	n/a
21	chr7:136850736-136850786	HRCEpiC	kidney:	n/a
22	chr7:136850736-136850786	U87	brain:	n/a
23	chr7:136850736-136850786	RPTEC	kidney:	n/a
24	chr7:136850736-136850786	AG04449	skin:	fetal
25	chr7:136850736-136850786	ProgFib	skin:	n/a
26	chr7:136850736-136850786	IMR90	lung:	fetal
27	chr7:136850736-136850786	H1-hESC	embryonic stem cell:	embryo
28	chr7:136850736-136850786	HepG2	liver:	n/a
29	chr7:136850736-136850786	MCF-7	breast:	n/a
30	chr7:136850736-136850786	AG10803	skin:	n/a
31	chr7:136850736-136850786	CMK	blood:	n/a
32	chr7:136850736-136850786	AG09319	gingival:	n/a
33	chr7:136850736-136850786	NT2-D1	testis:	n/a
34	chr7:136850736-136850786	NB4	blood:	n/a
35	chr7:136850736-136850786	Hela-S3	cervix:	n/a
36	chr7:136850736-136850786	HL-60	blood:	n/a
37	chr7:136850736-136850786	AG09309	skin:	n/a
38	chr7:136850736-136850786	SKMC	muscle:	n/a
39	chr7:136850736-136850786	HIPEpiC	eye:	n/a
40	chr7:136850736-136850786	A549	lung:	n/a
41	chr7:136850736-136850786	HUVEC	blood vessel:	n/a
42	chr7:136850736-136850786	Hepatocyte	liver:	n/a
43	chr7:136850736-136850786	HCF	heart:	n/a
44	chr7:136850736-136850786	HRE	kidney:	n/a
45	chr7:136850736-136850786	GM12878	blood:	n/a
46	chr7:136850736-136850786	NH-A	brain:	n/a
47	chr7:136850736-136850786	T-47D	breast:	n/a
48	chr7:136850736-136850786	SK-N-SH_RA	brain:	n/a
49	chr7:136850736-136850786	SK-N-SH	brain:	n/a
50	chr7:136850736-136850786	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
ENSG00000234352	TF binding region
ENSG00000234352	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200861276	chr7:136850789-136850790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200970066	chr7:136850791-136850792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386411441	chr7:136850792-136850793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72574895	chr7:136850793-136850794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397797362	chr7:136850794-136850795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113706539	chr7:136850899-136850900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201052904	chr7:136850901-136850902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201683620	chr7:136850903-136850904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199959492	chr7:136850904-136850905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560690768	chr7:136850953-136850954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35679992	chr7:136850984-136850985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192804438	chr7:136850986-136850987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549125545	chr7:136851037-136851038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs33914231	chr7:136851039-136851040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531376473	chr7:136851065-136851066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551097922	chr7:136851072-136851073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78217012	chr7:136851176-136851177	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs832959	chr7:136851227-136851228	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184920829	chr7:136851229-136851230	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144684635	chr7:136851302-136851303	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554167843	chr7:136851407-136851408	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535533645	chr7:136851415-136851416	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555876511	chr7:136851474-136851475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs832958	chr7:136851486-136851487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547970749	chr7:136851581-136851582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544556061	chr7:136851626-136851627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557872833	chr7:136851627-136851628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367695011	chr7:136851628-136851629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371254146	chr7:136851706-136851707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568084333	chr7:136851756-136851757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533533755	chr7:136851768-136851769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547296463	chr7:136851770-136851771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566792769	chr7:136851775-136851776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560655795	chr7:136851776-136851777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538854520	chr7:136851902-136851903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71176385	chr7:136851920-136851921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67986741	chr7:136851921-136851922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529555923	chr7:136852131-136852132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs833013	chr7:136852147-136852148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138557158	chr7:136852167-136852168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531307622	chr7:136852240-136852241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34590530	chr7:136852313-136852314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140117310	chr7:136852420-136852421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117000853	chr7:136852437-136852438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547316111	chr7:136852456-136852457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567120726	chr7:136852457-136852458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536083633	chr7:136852463-136852464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117451743	chr7:136852481-136852482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569290119	chr7:136852539-136852540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188138451	chr7:136852610-136852611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136849600-136851200	Enhancers	Fetal Stomach	stomach
2	chr7:136850000-136851200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:136850400-136850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:136850400-136854000	Weak transcription	Fetal Kidney	kidney
5	chr7:136850600-136851600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:136850800-136851600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:136851200-136851400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:136851200-136853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136851200-136853800	Weak transcription	Fetal Stomach	stomach

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