Variant report

Variant	esv3504588
Chromosome Location	chr7:27783254-27783770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr7:27783178-27783325	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27780417..27784283-chr7:27794073..27796581,3	MCF-7	breast:
2	chr7:27783237..27786573-chr7:27802443..27806955,4	K562	blood:
3	chr7:27777088..27781357-chr7:27783261..27787943,9	MCF-7	breast:
4	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
5	chr7:27702844..27705316-chr7:27782990..27784557,2	K562	blood:
6	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
7	chr7:27782398..27784453-chr7:27793755..27796214,2	K562	blood:
8	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229893	TF binding region
ENSG00000106052	chromatin interactions
ENSG00000229893	chromatin interactions
ENSG00000106049	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151279702	chr7:27783270-27783271	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs77739948	chr7:27783271-27783272	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs544986118	chr7:27783293-27783294	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs34943078	chr7:27783296-27783297	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs17685087	chr7:27783322-27783323	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373437178	chr7:27783363-27783364	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs7810413	chr7:27783393-27783394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs7810414	chr7:27783399-27783400	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs7810417	chr7:27783403-27783404	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7810419	chr7:27783410-27783411	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs58774608	chr7:27783416-27783417	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs371175297	chr7:27783419-27783420	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs376124438	chr7:27783423-27783424	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367574507	chr7:27783430-27783431	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs59129537	chr7:27783452-27783453	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs61124755	chr7:27783457-27783458	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs553339799	chr7:27783464-27783465	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs375015435	chr7:27783465-27783466	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs367984037	chr7:27783469-27783470	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570580148	chr7:27783472-27783473	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs61251456	chr7:27783476-27783477	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs59727301	chr7:27783481-27783482	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs60576670	chr7:27783487-27783488	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs60675172	chr7:27783488-27783489	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs58492122	chr7:27783494-27783495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs60356605	chr7:27783505-27783506	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs58666348	chr7:27783513-27783514	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs59769503	chr7:27783514-27783515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs369668677	chr7:27783517-27783518	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs377426793	chr7:27783518-27783519	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs74210802	chr7:27783526-27783527	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs57820315	chr7:27783573-27783574	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs60806507	chr7:27783580-27783581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs61454305	chr7:27783614-27783615	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs59212875	chr7:27783618-27783619	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs61214882	chr7:27783626-27783627	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370949745	chr7:27783656-27783657	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs201727065	chr7:27783675-27783676	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs374007373	chr7:27783716-27783717	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs184960409	chr7:27783721-27783722	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201931046	chr7:27783722-27783723	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs200405108	chr7:27783723-27783724	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780600-27784600	Weak transcription	Spleen	Spleen
2	chr7:27780800-27784600	Weak transcription	Left Ventricle	heart
3	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:27780800-27789400	Weak transcription	Lung	lung
5	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:27780800-27815200	Weak transcription	Gastric	stomach
9	chr7:27781000-27784000	Weak transcription	HUVEC	blood vessel
10	chr7:27781000-27784200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:27781000-27784200	Weak transcription	NH-A	brain
12	chr7:27781000-27784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:27781000-27784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:27781000-27784600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:27781000-27784600	Weak transcription	Colonic Mucosa	Colon
16	chr7:27781000-27784600	Weak transcription	Ovary	ovary
17	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
20	chr7:27781200-27784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:27781200-27784200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:27781200-27784200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:27781200-27784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:27781200-27784200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:27781200-27784200	Weak transcription	Fetal Intestine Large	intestine
26	chr7:27781200-27784200	Weak transcription	Stomach Mucosa	stomach
27	chr7:27781200-27784200	Weak transcription	Dnd41	blood
28	chr7:27781200-27784200	Weak transcription	GM12878-XiMat	blood
29	chr7:27781200-27784200	Weak transcription	Hela-S3	cervix
30	chr7:27781200-27784200	Weak transcription	Osteobl	bone
31	chr7:27781200-27784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:27781200-27784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:27781200-27784400	Weak transcription	Primary T cells from cord blood	blood
34	chr7:27781200-27784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:27781200-27784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:27781200-27784400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:27781200-27784400	Weak transcription	HSMMtube	muscle
38	chr7:27781200-27784400	Weak transcription	NHLF	lung
39	chr7:27781200-27784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:27781200-27784600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:27781200-27784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:27781200-27784600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:27781200-27784600	Weak transcription	Brain Anterior Caudate	brain
44	chr7:27781200-27784600	Weak transcription	Fetal Heart	heart
45	chr7:27781200-27784600	Weak transcription	Fetal Kidney	kidney
46	chr7:27781200-27784600	Weak transcription	Fetal Lung	lung
47	chr7:27781200-27784600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:27781200-27784600	Weak transcription	HMEC	breast
49	chr7:27781200-27784600	Weak transcription	HSMM	muscle
50	chr7:27781200-27784600	Weak transcription	NHEK	skin

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