Variant report

Variant	esv2756505
Chromosome Location	chr7:3789992-3856544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:
2	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
3	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
4	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
5	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
6	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
7	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
8	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
9	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
10	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
11	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
12	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
13	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:

No data

Extended variants
information (count: 3787 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3787 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10233941	chr7:3789992-3789993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193242595	chr7:3790020-3790021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10264350	chr7:3790057-3790058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185732841	chr7:3790062-3790063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543625805	chr7:3790066-3790067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563599279	chr7:3790112-3790113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143572104	chr7:3790116-3790117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570225302	chr7:3790128-3790129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374870466	chr7:3790131-3790132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190163594	chr7:3790155-3790156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376205552	chr7:3790157-3790158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559521681	chr7:3790219-3790220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10279868	chr7:3790228-3790229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548363133	chr7:3790230-3790231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549072678	chr7:3790265-3790266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181864778	chr7:3790277-3790278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536804247	chr7:3790312-3790313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550797000	chr7:3790338-3790339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570759191	chr7:3790342-3790343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539786574	chr7:3790387-3790388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552991482	chr7:3790394-3790395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372566158	chr7:3790427-3790428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75927703	chr7:3790450-3790451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10267781	chr7:3790457-3790458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534454907	chr7:3790464-3790465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555135568	chr7:3790483-3790484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184400187	chr7:3790488-3790489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375493578	chr7:3790541-3790542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555665494	chr7:3790545-3790546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542087477	chr7:3790551-3790552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188446234	chr7:3790601-3790602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181215383	chr7:3790609-3790610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184920319	chr7:3790610-3790611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560015783	chr7:3790626-3790627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528439278	chr7:3790659-3790660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548569748	chr7:3790684-3790685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561991800	chr7:3790689-3790690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370547860	chr7:3790697-3790698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531071110	chr7:3790717-3790718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550788768	chr7:3790731-3790732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190946444	chr7:3790746-3790747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563893832	chr7:3790749-3790750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533245365	chr7:3790761-3790762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552912189	chr7:3790762-3790763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62437937	chr7:3790791-3790792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77710209	chr7:3790826-3790827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535067011	chr7:3790840-3790841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555346601	chr7:3790848-3790849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182391313	chr7:3790857-3790858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115828702	chr7:3790876-3790877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3773000-3820000	Weak transcription	Pancreas	Pancrea
2	chr7:3780200-3795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3782600-3800200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3788200-3790400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:3788200-3794000	Weak transcription	Fetal Lung	lung
6	chr7:3789200-3793000	Weak transcription	Fetal Brain Male	brain
7	chr7:3790000-3791600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:3790200-3791000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:3790400-3791400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:3790400-3794000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:3791000-3793200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:3791400-3791800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr7:3791600-3793600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:3791800-3793400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:3792600-3792800	Enhancers	Gastric	stomach
16	chr7:3792800-3801800	Weak transcription	Gastric	stomach
17	chr7:3793000-3793200	Enhancers	Fetal Brain Male	brain
18	chr7:3793000-3793600	Enhancers	Fetal Brain Female	brain
19	chr7:3793000-3795000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:3793000-3795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:3793200-3793800	Weak transcription	Fetal Brain Male	brain
22	chr7:3793200-3794000	Enhancers	Brain Anterior Caudate	brain
23	chr7:3793200-3794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:3793200-3794800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:3793200-3795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:3793200-3795000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:3793200-3795000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:3793200-3795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:3793400-3796600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:3793600-3794000	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:3793600-3794000	Weak transcription	Fetal Brain Female	brain
32	chr7:3793600-3794200	Enhancers	Brain Germinal Matrix	brain
33	chr7:3793600-3794400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:3793600-3794600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:3793600-3794800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:3793600-3795000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:3793600-3795000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:3793600-3795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:3793800-3794000	Enhancers	Brain Hippocampus Middle	brain
40	chr7:3793800-3795000	Enhancers	Fetal Brain Male	brain
41	chr7:3794000-3794200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:3794000-3794200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:3794000-3794200	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr7:3794000-3794200	Enhancers	Brain Substantia Nigra	brain
45	chr7:3794000-3794200	Enhancers	Stomach Smooth Muscle	stomach
46	chr7:3794000-3794200	Enhancers	NH-A	brain
47	chr7:3794000-3794400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr7:3794000-3794400	Enhancers	Fetal Brain Female	brain
49	chr7:3794000-3794400	Enhancers	Fetal Heart	heart
50	chr7:3794000-3794400	Enhancers	Fetal Lung	lung

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