Variant report

Variant	esv2498578
Chromosome Location	chr7:5248167-5249410
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	EBF1	chr7:5248199-5248408	GM12878	blood:	n/a	chr7:5248316-5248327
2	POLR2A	chr7:5249170-5249214	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5229839..5231693-chr7:5248834..5250794,2	MCF-7	breast:
2	chr7:5247293..5249446-chr7:5249738..5252725,2	K562	blood:
3	chr7:5237141..5239553-chr7:5249039..5250574,2	K562	blood:
4	chr7:5234807..5238280-chr7:5245330..5248670,4	MCF-7	breast:
5	chr12:19791059..19793636-chr7:5247204..5249327,2	MCF-7	breast:

Variant related genes	Relation type
WIPI2	TF binding region
ENSG00000157954	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561108382	chr7:5248237-5248238	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184717095	chr7:5248244-5248245	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145646329	chr7:5248260-5248261	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570488433	chr7:5248279-5248280	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538380771	chr7:5248282-5248283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556394904	chr7:5248289-5248290	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574832139	chr7:5248355-5248356	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542081772	chr7:5248440-5248441	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554375135	chr7:5248443-5248444	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188893235	chr7:5248453-5248454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546497292	chr7:5248481-5248482	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6972587	chr7:5248495-5248496	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532136866	chr7:5248535-5248536	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370190250	chr7:5248561-5248562	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544152820	chr7:5248576-5248577	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562444927	chr7:5248579-5248580	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529767830	chr7:5248594-5248595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548098477	chr7:5248597-5248598	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559896718	chr7:5248610-5248611	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527607079	chr7:5248621-5248622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79365200	chr7:5248630-5248631	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370891451	chr7:5248644-5248645	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59427801	chr7:5248645-5248646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74678319	chr7:5248662-5248663	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552047668	chr7:5248694-5248695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6952562	chr7:5248751-5248752	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12534949	chr7:5248756-5248757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs550123749	chr7:5248814-5248815	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538241277	chr7:5248905-5248906	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71529323	chr7:5248907-5248908	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181313512	chr7:5248952-5248953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369635061	chr7:5248953-5248954	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145009252	chr7:5248969-5248970	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373370005	chr7:5248972-5248973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147570464	chr7:5248985-5248986	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12537639	chr7:5249011-5249012	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368167966	chr7:5249058-5249059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551180709	chr7:5249096-5249097	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142064560	chr7:5249121-5249122	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558496891	chr7:5249154-5249155	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112806097	chr7:5249185-5249186	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs111952559	chr7:5249189-5249190	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185578513	chr7:5249203-5249204	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562469135	chr7:5249218-5249219	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574479972	chr7:5249227-5249228	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189271856	chr7:5249247-5249248	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549738760	chr7:5249248-5249249	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559960059	chr7:5249252-5249253	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571313184	chr7:5249258-5249259	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527472004	chr7:5249261-5249262	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5231200-5249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:5231200-5254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:5231400-5253800	Weak transcription	Fetal Kidney	kidney
4	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
5	chr7:5231600-5252600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:5231800-5249800	Weak transcription	Brain Angular Gyrus	brain
7	chr7:5231800-5254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:5231800-5273400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:5232000-5257200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:5232200-5256600	Weak transcription	Small Intestine	intestine
11	chr7:5232400-5256200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:5232600-5254000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:5233000-5255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:5233800-5250400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:5234000-5250400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:5234000-5274800	Weak transcription	Stomach Mucosa	stomach
17	chr7:5237400-5257400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:5237400-5258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:5237400-5272600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:5237400-5273400	Strong transcription	Dnd41	blood
21	chr7:5239000-5267800	Strong transcription	Fetal Intestine Large	intestine
22	chr7:5239000-5270800	Strong transcription	Placenta	Placenta
23	chr7:5240000-5249000	Weak transcription	K562	blood
24	chr7:5240200-5251400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:5240400-5250400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:5240600-5249200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:5240600-5249200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:5240600-5250000	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:5240600-5250400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:5240800-5249000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:5240800-5249400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:5240800-5249600	Weak transcription	Right Ventricle	heart
33	chr7:5240800-5250000	Weak transcription	Aorta	Aorta
34	chr7:5240800-5254000	Weak transcription	Colonic Mucosa	Colon
35	chr7:5241000-5249600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:5241000-5265600	Weak transcription	Psoas Muscle	Psoas
37	chr7:5241200-5249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:5241200-5250000	Weak transcription	NHEK	skin
39	chr7:5241400-5249200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:5241400-5250000	Weak transcription	Brain Substantia Nigra	brain
41	chr7:5242000-5249600	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:5242000-5250000	Weak transcription	NH-A	brain
43	chr7:5242800-5255200	Weak transcription	Fetal Heart	heart
44	chr7:5242800-5256400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:5243200-5248800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:5243200-5249600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:5243600-5249200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:5243600-5253800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:5243800-5249000	Weak transcription	Brain Anterior Caudate	brain
50	chr7:5243800-5249000	Weak transcription	HSMMtube	muscle

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