Variant report

Variant	esv1800518
Chromosome Location	chr7:87183354-87190955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:87183426-87183626	HepG2	liver:	n/a	chr7:87183506-87183517
2	CEBPB	chr7:87183435-87183625	K562	blood:	n/a	chr7:87183506-87183517
3	CEBPB	chr7:87190646-87190699	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:87189705-87189841	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA3	chr7:87184768-87184890	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr7:87189961-87190111	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr7:87185484-87185510	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:87189782-87189832	PFSK-1	brain:	n/a
2	chr7:87189782-87189832	NT2-D1	testis:	n/a
3	chr7:87189782-87189832	PANC-1	pancreas:	n/a
4	chr7:87189782-87189832	HAEpiC	amniotic membrane:	n/a
5	chr7:87189782-87189832	GM06990	blood:	n/a
6	chr7:87189782-87189832	MCF-7	breast:	n/a
7	chr7:87189782-87189832	ProgFib	skin:	n/a
8	chr7:87189782-87189832	NH-A	brain:	n/a
9	chr7:87189782-87189832	ECC-1	luminal epithelium:	n/a
10	chr7:87189782-87189832	GM12891	blood:	n/a
11	chr7:87189782-87189832	AG09319	gingival:	n/a
12	chr7:87189782-87189832	H1-hESC	embryonic stem cell:	embryo
13	chr7:87189782-87189832	NB4	blood:	n/a
14	chr7:87189782-87189832	HPAEpiC	pulmonary alveolar:	n/a
15	chr7:87189782-87189832	SKMC	muscle:	n/a
16	chr7:87189782-87189832	ovcar-3	ovarian:	n/a
17	chr7:87189782-87189832	Caco-2	colon:	n/a
18	chr7:87189782-87189832	IMR90	lung:	fetal
19	chr7:87189782-87189832	A549	lung:	n/a
20	chr7:87189782-87189832	SK-N-SH_RA	brain:	n/a
21	chr7:87189782-87189832	BE2_C	brain:	n/a
22	chr7:87189782-87189832	HRPEpiC	eye:	n/a
23	chr7:87189782-87189832	SK-N-SH	brain:	n/a
24	chr7:87189782-87189832	HCF	heart:	n/a
25	chr7:87189782-87189832	AG10803	skin:	n/a
26	chr7:87189782-87189832	SK-N-MC	brain:	n/a
27	chr7:87189782-87189832	LNCaP	prostate:	n/a
28	chr7:87189782-87189832	HRE	kidney:	n/a
29	chr7:87189782-87189832	HMEC	breast:	n/a
30	chr7:87189782-87189832	K562	blood:	n/a
31	chr7:87189782-87189832	NHBE	bronchial:	n/a
32	chr7:87189782-87189832	BJ	skin:	n/a
33	chr7:87189782-87189832	HepG2	liver:	n/a
34	chr7:87189782-87189832	AoSMC	blood vessel:	n/a
35	chr7:87189782-87189832	AG04449	skin:	fetal
36	chr7:87189782-87189832	HL-60	blood:	n/a
37	chr7:87189782-87189832	GM19239	blood:	n/a
38	chr7:87189782-87189832	HCT-116	colon:	n/a
39	chr7:87189782-87189832	AG09309	skin:	n/a
40	chr7:87189782-87189832	NHDF-neo	bronchial:	n/a
41	chr7:87189782-87189832	HCPEpiC	choroid plexus:	n/a
42	chr7:87189782-87189832	PrEC	prostate:	n/a
43	chr7:87189782-87189832	HUVEC	blood vessel:	n/a
44	chr7:87189782-87189832	CMK	blood:	n/a
45	chr7:87189782-87189832	AG04450	lung:	fetal
46	chr7:87189782-87189832	MCF10A-Er-Src	breast:	n/a
47	chr7:87189782-87189832	HNPCEpiC	eye:	n/a
48	chr7:87189782-87189832	GM12892	blood:	n/a
49	chr7:87189782-87189832	HRCEpiC	kidney:	n/a
50	chr7:87189782-87189832	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:87185400..87187145-chr7:87503144..87505083,2	MCF-7	breast:
2	chr7:87178102..87179741-chr7:87182136..87184676,2	K562	blood:
3	chr7:87178451..87181333-chr7:87186970..87189377,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB1	TF binding region
ABCB1	CpG island
ENSG00000085563	chromatin interactions

Extended variants
information (count: 264 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1922240	chr7:87183354-87183355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545118729	chr7:87183379-87183380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs118072849	chr7:87183401-87183402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116906648	chr7:87183406-87183407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542735824	chr7:87183411-87183412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377102862	chr7:87183420-87183421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528714727	chr7:87183439-87183440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28381880	chr7:87183468-87183469	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555242237	chr7:87183475-87183476	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570387977	chr7:87183608-87183609	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532126228	chr7:87183620-87183621	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550551936	chr7:87183632-87183633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370840388	chr7:87183636-87183637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28381879	chr7:87183641-87183642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548318466	chr7:87183647-87183648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs5885589	chr7:87183652-87183653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs397977798	chr7:87183666-87183667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62488823	chr7:87183669-87183670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566654614	chr7:87183757-87183758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537893521	chr7:87183772-87183773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575071926	chr7:87183781-87183782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17149772	chr7:87183783-87183784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540617260	chr7:87183827-87183828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558809698	chr7:87183842-87183843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373618724	chr7:87183853-87183854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28381878	chr7:87183857-87183858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28381877	chr7:87183863-87183864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370955384	chr7:87183884-87183885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187971396	chr7:87183941-87183942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28381876	chr7:87183998-87183999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28381875	chr7:87184001-87184002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540512739	chr7:87184031-87184032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542263549	chr7:87184113-87184114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149475798	chr7:87184182-87184183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530002558	chr7:87184243-87184244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532647265	chr7:87184252-87184253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544939715	chr7:87184261-87184262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28381874	chr7:87184321-87184322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145961959	chr7:87184371-87184372	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139722542	chr7:87184373-87184374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566491099	chr7:87184403-87184404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527472402	chr7:87184423-87184424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532626543	chr7:87184508-87184509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142948049	chr7:87184579-87184580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572567099	chr7:87184596-87184597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537713846	chr7:87184614-87184615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs180835596	chr7:87184649-87184650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35757402	chr7:87184696-87184697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146167601	chr7:87184724-87184725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185242030	chr7:87184736-87184737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87135400-87198000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:87138800-87185000	Weak transcription	Primary B cells from cord blood	blood
3	chr7:87139400-87211000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:87139600-87197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:87144600-87215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:87144800-87186600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:87146200-87228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:87152800-87185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:87155600-87184800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:87157600-87183800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:87163000-87183600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:87172600-87188400	Weak transcription	Pancreas	Pancrea
13	chr7:87174400-87183600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:87174600-87193400	Weak transcription	Fetal Intestine Large	intestine
15	chr7:87174600-87219800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:87175400-87195000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:87177600-87183800	Strong transcription	Primary T cells from cord blood	blood
18	chr7:87177600-87183800	Strong transcription	Liver	Liver
19	chr7:87178400-87193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:87179600-87193600	Weak transcription	HepG2	liver
21	chr7:87179600-87212800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:87180600-87190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:87183200-87194200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:87183600-87193400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:87183800-87189800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:87183800-87193400	Weak transcription	Liver	Liver
27	chr7:87183800-87194800	Weak transcription	Primary T cells from cord blood	blood
28	chr7:87185200-87188400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:87188400-87191800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:87188600-87190000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:87188800-87190200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:87188800-87190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:87188800-87191000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:87188800-87191000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:87189000-87190400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr7:87189000-87191800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:87189000-87191800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:87189400-87191800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:87189800-87191800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:87190200-87190800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:87190800-87191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:87190800-87191400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:87190800-87191600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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