Variant report

Variant	esv3374777
Chromosome Location	chr7:87254566-87256764
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	CTCF	chr7:87256680-87256830	HRPEpiC	eye:	n/a	n/a
2	GATA3	chr7:87256759-87256770	SH-SY5Y	brain:	n/a	n/a
3	JUND	chr7:87254542-87254762	HepG2	liver:	n/a	n/a
4	MAZ	chr7:87256667-87258080	IMR90	lung:	n/a	chr7:87257699-87257709
5	MXI1	chr7:87256278-87259066	SK-N-SH	brain:	n/a	n/a
6	MXI1	chr7:87256654-87258207	IMR90	lung:	n/a	n/a
7	MYC	chr7:87256121-87256227	MCF-7	breast:	n/a	n/a
8	NFIC	chr7:87255388-87256101	GM12878	blood:	n/a	n/a
9	NRF1	chr7:87256535-87258142	SK-N-SH	brain:	n/a	chr7:87257690-87257699
10	POLR2A	chr7:87256181-87256218	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:87256138-87256187	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:87256138-87256236	A549	lung:	n/a	n/a
13	POLR2A	chr7:87256151-87256179	MCF-7	breast:	n/a	n/a
14	REST	chr7:87256621-87258924	H1-neurons	neurons:	n/a	chr7:87258412-87258425 chr7:87258409-87258422 chr7:87258406-87258424 chr7:87258405-87258425 chr7:87258407-87258415 chr7:87258405-87258425 chr7:87258405-87258425
15	RFX5	chr7:87255102-87255117	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RUNDC3B	TF binding region

Extended variants
information (count: 239 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371773338	chr7:87254570-87254571	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533472824	chr7:87254572-87254573	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140274760	chr7:87254603-87254604	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35855743	chr7:87254643-87254644	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530542447	chr7:87254694-87254695	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144340377	chr7:87254729-87254730	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147375925	chr7:87254754-87254755	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368988592	chr7:87254777-87254778	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560675262	chr7:87254793-87254794	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189144237	chr7:87254835-87254836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546433191	chr7:87254874-87254875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571206597	chr7:87254879-87254880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114546814	chr7:87254944-87254945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375983947	chr7:87254974-87254975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532994282	chr7:87254988-87254989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569918525	chr7:87255072-87255073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182235714	chr7:87255083-87255084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185574517	chr7:87255110-87255111	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574225856	chr7:87255134-87255135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571031312	chr7:87255153-87255154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553556823	chr7:87255224-87255225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190832155	chr7:87255268-87255269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551046904	chr7:87255276-87255277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150751812	chr7:87255288-87255289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376767117	chr7:87255326-87255327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563398176	chr7:87255335-87255336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180816334	chr7:87255337-87255338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1468149	chr7:87255339-87255340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201541879	chr7:87255340-87255341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35141338	chr7:87255341-87255342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534787172	chr7:87255343-87255344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542639940	chr7:87255345-87255346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200802224	chr7:87255347-87255348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145870850	chr7:87255372-87255373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528220984	chr7:87255380-87255381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372003612	chr7:87255393-87255394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369122227	chr7:87255394-87255395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368542374	chr7:87255407-87255408	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs199877301	chr7:87255415-87255416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571441922	chr7:87255416-87255417	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs61117458	chr7:87255417-87255418	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539032501	chr7:87255418-87255419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539946414	chr7:87255426-87255427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs185201235	chr7:87255434-87255435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs111891152	chr7:87255437-87255438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113635096	chr7:87255438-87255439	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs532352571	chr7:87255440-87255441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557027285	chr7:87255441-87255442	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200143121	chr7:87255445-87255446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190014025	chr7:87255451-87255452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87254200-87254800	Active TSS	Placenta	Placenta
2	chr7:87254600-87255200	Enhancers	Liver	Liver
3	chr7:87254800-87255200	Enhancers	Placenta	Placenta
4	chr7:87255200-87256400	Weak transcription	Liver	Liver
5	chr7:87256400-87256600	Enhancers	Liver	Liver
6	chr7:87256400-87256600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:87256600-87256800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:87256600-87256800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:87256600-87256800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:87256600-87256800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr7:87256600-87256800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:87256600-87256800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:87256600-87256800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:87256600-87256800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:87256600-87256800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:87256600-87256800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:87256600-87256800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:87256600-87256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:87256600-87256800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:87256600-87256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:87256600-87256800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:87256600-87256800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:87256600-87256800	Enhancers	Adipose Nuclei	Adipose
24	chr7:87256600-87256800	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:87256600-87256800	Active TSS	Brain Germinal Matrix	brain
26	chr7:87256600-87256800	Enhancers	Colonic Mucosa	Colon
27	chr7:87256600-87256800	Enhancers	Fetal Brain Female	brain
28	chr7:87256600-87256800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:87256600-87256800	Enhancers	Ovary	ovary
30	chr7:87256600-87256800	Enhancers	Pancreas	Pancrea
31	chr7:87256600-87256800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:87256600-87256800	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:87256600-87256800	Enhancers	Right Ventricle	heart
34	chr7:87256600-87256800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr7:87256600-87256800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr7:87256600-87256800	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:87256600-87256800	Enhancers	Spleen	Spleen
38	chr7:87256600-87256800	Enhancers	GM12878-XiMat	blood
39	chr7:87256600-87256800	Active TSS	NH-A	brain
40	chr7:87256600-87256800	Enhancers	NHEK	skin
41	chr7:87256600-87257000	Bivalent Enhancer	Primary B cells from cord blood	blood
42	chr7:87256600-87257000	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:87256600-87257000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
44	chr7:87256600-87257000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:87256600-87257000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:87256600-87257200	Flanking Bivalent TSS/Enh	A549	lung
47	chr7:87256600-87257400	Flanking Active TSS	Liver	Liver
48	chr7:87256600-87257600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:87256600-87258800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:87256600-87259000	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links