Variant report

Variant	esv3496581
Chromosome Location	chr7:96813121-96813593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148817424	chr7:96813131-96813132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80287679	chr7:96813219-96813220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71131008	chr7:96813232-96813233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183455405	chr7:96813245-96813246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529087733	chr7:96813251-96813252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549016171	chr7:96813253-96813254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367836570	chr7:96813254-96813255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374060533	chr7:96813316-96813317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528042379	chr7:96813343-96813344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370144252	chr7:96813360-96813361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550945190	chr7:96813363-96813364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541852930	chr7:96813364-96813365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539738475	chr7:96813366-96813367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561223080	chr7:96813375-96813376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570193303	chr7:96813395-96813396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533072779	chr7:96813404-96813405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528418778	chr7:96813415-96813416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111523998	chr7:96813429-96813430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546772861	chr7:96813430-96813431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571308392	chr7:96813435-96813436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535158425	chr7:96813441-96813442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374883700	chr7:96813442-96813443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188950220	chr7:96813465-96813466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578104867	chr7:96813481-96813482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192905255	chr7:96813494-96813495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563437843	chr7:96813501-96813502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573749985	chr7:96813504-96813505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111278316	chr7:96813505-96813506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559532484	chr7:96813509-96813510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112182308	chr7:96813512-96813513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528150679	chr7:96813520-96813521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376111887	chr7:96813521-96813522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551104989	chr7:96813549-96813550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551590267	chr7:96813560-96813561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96771400-96818200	Weak transcription	A549	lung
2	chr7:96789400-96815400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:96789400-96818000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:96789600-96818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:96790400-96814600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:96790600-96813600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:96790600-96813600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:96797400-96814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:96797400-96814800	Weak transcription	Pancreas	Pancrea
10	chr7:96797400-96816400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:96797400-96816600	Weak transcription	Aorta	Aorta
12	chr7:96797600-96818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:96797800-96816000	Weak transcription	Primary B cells from cord blood	blood
14	chr7:96801200-96815400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:96803000-96818400	Weak transcription	Psoas Muscle	Psoas
16	chr7:96803200-96813400	Weak transcription	Hela-S3	cervix
17	chr7:96804000-96817200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:96804200-96816000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:96804200-96816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:96805000-96814200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:96805400-96819000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:96805800-96813600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:96808800-96813600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:96809000-96813200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:96809400-96817400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:96810000-96818000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:96810200-96815200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:96810600-96814000	Weak transcription	HSMMtube	muscle
29	chr7:96810800-96813400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:96811000-96813400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:96811000-96813400	Weak transcription	Fetal Heart	heart
32	chr7:96811000-96814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:96811200-96813600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:96811200-96813600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:96811200-96813600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:96811600-96813200	Strong transcription	Primary T cells from cord blood	blood
37	chr7:96811800-96813200	Strong transcription	K562	blood
38	chr7:96812200-96814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:96812200-96815600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:96812200-96815600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:96812400-96813600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:96812400-96814000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:96812400-96814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:96812400-96814000	Weak transcription	Fetal Intestine Large	intestine
45	chr7:96812400-96814000	Weak transcription	Left Ventricle	heart
46	chr7:96812400-96814200	Weak transcription	HepG2	liver
47	chr7:96812400-96814800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:96812400-96815600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:96812400-96816400	Weak transcription	Adipose Nuclei	Adipose
50	chr7:96812400-96817600	Weak transcription	Ovary	ovary

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