Variant report

Variant	esv3526326
Chromosome Location	chr7:80801202-80803906
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	ATF3	chr7:80803048-80803628	A549	lung:	n/a	n/a
2	BCL3	chr7:80802786-80803832	A549	lung:	n/a	n/a
3	BCL3	chr7:80803015-80803706	A549	lung:	n/a	n/a
4	BRCA1	chr7:80802930-80803818	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:80803075-80803700	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:80803130-80803669	IMR90	lung:	n/a	n/a
7	CEBPB	chr7:80803122-80803680	A549	lung:	n/a	n/a
8	CEBPB	chr7:80802976-80803776	A549	lung:	n/a	n/a
9	CEBPB	chr7:80803183-80803722	A549	lung:	n/a	n/a
10	CHD2	chr7:80803050-80803682	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr7:80802972-80803477	A549	lung:	n/a	n/a
12	EP300	chr7:80802736-80803840	A549	lung:	n/a	chr7:80803463-80803473
13	EP300	chr7:80802923-80803715	Hela-S3	cervix:	n/a	chr7:80803463-80803473
14	EP300	chr7:80802840-80803639	ECC-1	luminal epithelium:	n/a	chr7:80803463-80803473
15	EP300	chr7:80802815-80803839	A549	lung:	n/a	chr7:80803463-80803473
16	FOS	chr7:80803333-80803714	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:80803102-80803724	MCF10A-Er-Src	breast:	n/a	chr7:80803118-80803130
18	FOS	chr7:80803204-80803741	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr7:80803414-80803589	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr7:80802918-80803819	A549	lung:	n/a	chr7:80802928-80802937 chr7:80803118-80803130 chr7:80802953-80802965
21	FOSL2	chr7:80803124-80803597	A549	lung:	n/a	n/a
22	FOXA1	chr7:80803026-80803579	T-47D	breast:	n/a	n/a
23	FOXA1	chr7:80803050-80803573	ECC-1	luminal epithelium:	n/a	n/a
24	FOXA1	chr7:80802955-80803531	T-47D	breast:	n/a	n/a
25	FOXA1	chr7:80803073-80803488	ECC-1	luminal epithelium:	n/a	n/a
26	FOXA2	chr7:80802837-80803735	A549	lung:	n/a	n/a
27	FOXA2	chr7:80803019-80803628	A549	lung:	n/a	n/a
28	GABPA	chr7:80802846-80803535	A549	lung:	n/a	n/a
29	GATA3	chr7:80803000-80803357	T-47D	breast:	n/a	n/a
30	GATA3	chr7:80802935-80803737	A549	lung:	n/a	n/a
31	GATA3	chr7:80802730-80803868	A549	lung:	n/a	n/a
32	GTF3C2	chr7:80802959-80803583	Hela-S3	cervix:	n/a	n/a
33	JUND	chr7:80803094-80803586	A549	lung:	n/a	chr7:80803118-80803130
34	KAP1	chr7:80803256-80803481	HEK293	kidney:	n/a	n/a
35	MAX	chr7:80802977-80803663	A549	lung:	n/a	chr7:80803497-80803506
36	MAX	chr7:80802894-80803759	A549	lung:	n/a	chr7:80803497-80803506
37	MAX	chr7:80803032-80803593	Hela-S3	cervix:	n/a	chr7:80803497-80803506
38	MYC	chr7:80803161-80803205	Hela-S3	cervix:	n/a	n/a
39	MYC	chr7:80803105-80803708	MCF10A-Er-Src	breast:	n/a	chr7:80803497-80803506
40	MYC	chr7:80803096-80803120	Hela-S3	cervix:	n/a	n/a
41	MYC	chr7:80803162-80803716	MCF10A-Er-Src	breast:	n/a	chr7:80803497-80803506
42	MYC	chr7:80803342-80803345	Hela-S3	cervix:	n/a	n/a
43	NFIC	chr7:80802907-80803636	SK-N-SH	brain:	n/a	n/a
44	NFIC	chr7:80803044-80803696	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr7:80802860-80803794	ECC-1	luminal epithelium:	n/a	n/a
46	NR3C1	chr7:80803079-80803652	A549	lung:	n/a	chr7:80803516-80803533
47	NR3C1	chr7:80803039-80803609	A549	lung:	n/a	chr7:80803516-80803533
48	NR3C1	chr7:80803165-80803689	A549	lung:	n/a	chr7:80803516-80803533
49	NR3C1	chr7:80803021-80803705	A549	lung:	n/a	chr7:80803516-80803533
50	NR3C1	chr7:80802986-80803602	A549	lung:	n/a	chr7:80803516-80803533

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
2	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237896	TF binding region
ENSG00000075223	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566433409	chr7:80801228-80801229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543116861	chr7:80801267-80801268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114350493	chr7:80801297-80801298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76879576	chr7:80801316-80801317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545737846	chr7:80801326-80801327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559211714	chr7:80801360-80801361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529118275	chr7:80801373-80801374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528328652	chr7:80801388-80801389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541419038	chr7:80801455-80801456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73141414	chr7:80801468-80801469	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374172761	chr7:80801491-80801492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549989423	chr7:80801497-80801498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559217200	chr7:80801547-80801548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368550858	chr7:80801607-80801608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532746112	chr7:80801612-80801613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552766304	chr7:80801646-80801647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183219865	chr7:80801650-80801651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535311094	chr7:80801655-80801656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548184134	chr7:80801657-80801658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568862951	chr7:80801665-80801666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371400626	chr7:80801700-80801701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374703773	chr7:80801701-80801702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs17532781	chr7:80802077-80802078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188078190	chr7:80802082-80802083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs327677	chr7:80802110-80802111	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556777997	chr7:80802162-80802163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116460183	chr7:80802178-80802179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192922891	chr7:80802185-80802186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368456647	chr7:80802191-80802192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552703948	chr7:80802211-80802212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572822389	chr7:80802233-80802234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184238587	chr7:80802237-80802238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187291129	chr7:80802241-80802242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs327678	chr7:80802406-80802407	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192637832	chr7:80802484-80802485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563784997	chr7:80802558-80802559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532605180	chr7:80802559-80802560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114025402	chr7:80802624-80802625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559954796	chr7:80802630-80802631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184662577	chr7:80802702-80802703	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs79870528	chr7:80802733-80802734	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540040365	chr7:80802737-80802738	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs73141418	chr7:80802768-80802769	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550509200	chr7:80802769-80802770	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570214857	chr7:80802814-80802815	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs327679	chr7:80802825-80802826	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188330286	chr7:80802851-80802852	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572683286	chr7:80802870-80802871	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375326933	chr7:80802871-80802872	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535767238	chr7:80802919-80802920	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80792600-80803000	Weak transcription	K562	blood
2	chr7:80800000-80802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:80800000-80802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:80800000-80802800	Weak transcription	Osteobl	bone
5	chr7:80800000-80803000	Weak transcription	HSMM	muscle
6	chr7:80800200-80802800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:80800200-80802800	Weak transcription	A549	lung
8	chr7:80800200-80802800	Weak transcription	NH-A	brain
9	chr7:80800200-80803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:80800200-80803000	Weak transcription	NHLF	lung
11	chr7:80800200-80804600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:80801200-80801400	Enhancers	Stomach Mucosa	stomach
13	chr7:80801600-80802800	Weak transcription	Stomach Mucosa	stomach
14	chr7:80802600-80803000	Enhancers	Hela-S3	cervix
15	chr7:80802800-80803000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:80802800-80803000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:80802800-80803000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:80802800-80803000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:80802800-80803000	Enhancers	NH-A	brain
20	chr7:80802800-80803000	Enhancers	Osteobl	bone
21	chr7:80802800-80803200	Active TSS	A549	lung
22	chr7:80802800-80803400	Enhancers	Fetal Heart	heart
23	chr7:80802800-80803600	Enhancers	Stomach Mucosa	stomach
24	chr7:80802800-80804600	Enhancers	HSMMtube	muscle
25	chr7:80803000-80803200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:80803000-80803200	Active TSS	K562	blood
27	chr7:80803000-80803400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:80803000-80803400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:80803000-80803400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:80803000-80803400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:80803000-80803400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:80803000-80803400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:80803000-80803400	Enhancers	Fetal Kidney	kidney
34	chr7:80803000-80803400	Flanking Active TSS	NHLF	lung
35	chr7:80803000-80803600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:80803000-80803600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:80803000-80803600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr7:80803000-80803600	Active TSS	Aorta	Aorta
39	chr7:80803000-80803600	Enhancers	Fetal Lung	lung
40	chr7:80803000-80803600	Flanking Active TSS	Hela-S3	cervix
41	chr7:80803000-80803600	Enhancers	HepG2	liver
42	chr7:80803000-80803600	Enhancers	HMEC	breast
43	chr7:80803000-80803600	Flanking Active TSS	Osteobl	bone
44	chr7:80803000-80803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:80803000-80803800	Flanking Active TSS	NH-A	brain
46	chr7:80803000-80804000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:80803000-80805200	Enhancers	HSMM	muscle
48	chr7:80803000-80805600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:80803000-80805600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:80803000-80805600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links