Variant report

Variant	esv3477448
Chromosome Location	chr7:104990240-104990845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104985604..104988009-chr7:104988661..104992551,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563840290	chr7:104990246-104990247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532797294	chr7:104990247-104990248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544606593	chr7:104990252-104990253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142876251	chr7:104990313-104990314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192414921	chr7:104990325-104990326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368409197	chr7:104990342-104990343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370327801	chr7:104990343-104990344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368005317	chr7:104990345-104990346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530831190	chr7:104990363-104990364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548933037	chr7:104990383-104990384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549914087	chr7:104990386-104990387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569861990	chr7:104990390-104990391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538880870	chr7:104990407-104990408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567438289	chr7:104990501-104990502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559042609	chr7:104990502-104990503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74553217	chr7:104990592-104990593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62484684	chr7:104990595-104990596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185562089	chr7:104990638-104990639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535147991	chr7:104990677-104990678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1204081	chr7:104990704-104990705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574838358	chr7:104990709-104990710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373667132	chr7:104990719-104990720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188923527	chr7:104990729-104990730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193061012	chr7:104990756-104990757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184703278	chr7:104990779-104990780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557482861	chr7:104990799-104990800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188634103	chr7:104990813-104990814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104962800-104992600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104963200-104991200	Weak transcription	Fetal Stomach	stomach
3	chr7:104973200-104998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:104976800-104991600	Weak transcription	HSMM	muscle
5	chr7:104980200-104991600	Weak transcription	HUVEC	blood vessel
6	chr7:104980400-104990800	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:104980400-104991200	Weak transcription	Right Ventricle	heart
8	chr7:104980400-104991400	Weak transcription	Spleen	Spleen
9	chr7:104980800-104992200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:104983000-104994000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:104983200-104992400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:104983800-104992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:104984000-104999200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:104984600-104996800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:104984800-104991800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:104984800-104992400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:104985600-104992400	Weak transcription	Small Intestine	intestine
18	chr7:104986600-104991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:104986600-104991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:104986600-104992600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:104986600-104992600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:104986800-104991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:104986800-104991200	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:104986800-104991400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:104986800-104992400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:104986800-104992600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:104987000-104991200	Weak transcription	Stomach Mucosa	stomach
28	chr7:104987000-104991400	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:104987000-104991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:104987000-104992600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:104987200-104991800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:104987200-104992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:104987200-104992600	Weak transcription	Pancreas	Pancrea
34	chr7:104987400-104992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:104987400-104994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:104987600-104992000	Enhancers	Primary B cells from cord blood	blood
37	chr7:104987600-104992600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:104987800-104991400	Weak transcription	Thymus	Thymus
39	chr7:104987800-104991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:104987800-104991600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:104987800-104992000	Weak transcription	Lung	lung
42	chr7:104987800-104992600	Weak transcription	Left Ventricle	heart
43	chr7:104988000-104990600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:104988000-104991000	Weak transcription	Psoas Muscle	Psoas
45	chr7:104988000-104991400	Weak transcription	Gastric	stomach
46	chr7:104988000-104991600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:104988000-104991600	Weak transcription	Placenta	Placenta
48	chr7:104988000-104992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:104988000-104993800	Weak transcription	Right Atrium	heart
50	chr7:104988200-104991400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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