Variant report

Variant	esv3477470
Chromosome Location	chr7:112512817-112520855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112432334..112434564-chr7:112518600..112520396,2	K562	blood:
2	chr7:112429147..112431739-chr7:112516354..112518877,2	MCF-7	breast:
3	chr17:61014386..61015185-chr7:112519778..112520466,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146802	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544847842	chr7:112512861-112512862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370227043	chr7:112512894-112512895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76496305	chr7:112512911-112512912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576506408	chr7:112512965-112512966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537400822	chr7:112512968-112512969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555538113	chr7:112513000-112513001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567154781	chr7:112513007-112513008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555827276	chr7:112513019-112513020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74437997	chr7:112513023-112513024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78043286	chr7:112513024-112513025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574271733	chr7:112513028-112513029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541291798	chr7:112513034-112513035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139842168	chr7:112513046-112513047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577782617	chr7:112513138-112513139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545515179	chr7:112513167-112513168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563792790	chr7:112513173-112513174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571733104	chr7:112513180-112513181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182922622	chr7:112513191-112513192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549744319	chr7:112513226-112513227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540692794	chr7:112513230-112513231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553016500	chr7:112513270-112513271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375535534	chr7:112513284-112513285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572880342	chr7:112513292-112513293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561882345	chr7:112513394-112513395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369372875	chr7:112513507-112513508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115869902	chr7:112513518-112513519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573543282	chr7:112513540-112513541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565900492	chr7:112513548-112513549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56781421	chr7:112513594-112513595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551913350	chr7:112513610-112513611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570154381	chr7:112513640-112513641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537095353	chr7:112513641-112513642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11983065	chr7:112513666-112513667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555710358	chr7:112513672-112513673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574287250	chr7:112513689-112513690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535344419	chr7:112513716-112513717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553363306	chr7:112513748-112513749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143281007	chr7:112513768-112513769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564195211	chr7:112513800-112513801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59984076	chr7:112513843-112513844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545159016	chr7:112513853-112513854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532916667	chr7:112513883-112513884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10233800	chr7:112513932-112513933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575731030	chr7:112513955-112513956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543080270	chr7:112513981-112513982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574903215	chr7:112513992-112513993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528853711	chr7:112513996-112513997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372482303	chr7:112514016-112514017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146663324	chr7:112514025-112514026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559643980	chr7:112514029-112514030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112533200	Weak transcription	HSMM	muscle
4	chr7:112471800-112545200	Weak transcription	Ovary	ovary
5	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112472200-112513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:112472200-112517800	Weak transcription	Osteobl	bone
8	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:112495600-112515000	Weak transcription	Pancreas	Pancrea
12	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:112498000-112515000	Weak transcription	Gastric	stomach
14	chr7:112499400-112517600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:112499600-112518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:112500600-112521200	Weak transcription	Thymus	Thymus
17	chr7:112501400-112518000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:112502600-112513200	Weak transcription	Primary B cells from cord blood	blood
19	chr7:112505400-112516000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:112506800-112513000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:112506800-112517800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:112507200-112513400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:112507200-112517800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:112507800-112529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:112509000-112516600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:112509200-112521000	Weak transcription	Right Atrium	heart
29	chr7:112509400-112516000	Weak transcription	Left Ventricle	heart
30	chr7:112509400-112517000	Weak transcription	Placenta	Placenta
31	chr7:112509400-112517800	Weak transcription	Spleen	Spleen
32	chr7:112509400-112521000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:112509400-112521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:112509400-112521000	Weak transcription	Esophagus	oesophagus
35	chr7:112509400-112521000	Weak transcription	Fetal Stomach	stomach
36	chr7:112509400-112521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:112509400-112523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:112509400-112532400	Weak transcription	Dnd41	blood
39	chr7:112509800-112514400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:112510200-112521600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:112510400-112514400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:112510600-112514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:112510600-112525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:112511400-112524600	Weak transcription	Brain Germinal Matrix	brain
45	chr7:112512200-112517800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:112512400-112518600	Weak transcription	Fetal Lung	lung
47	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:112513000-112513200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:112513000-112518800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:112513000-112522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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