Variant report

Variant	esv2593872
Chromosome Location	chr7:96812488-96814172
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	chr7:96801538..96803188-chr7:96810156..96813004,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556203296	chr7:96812501-96812502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10229665	chr7:96812504-96812505	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562113327	chr7:96812505-96812506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527727985	chr7:96812518-96812519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144733699	chr7:96812535-96812536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564377789	chr7:96812553-96812554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533133067	chr7:96812562-96812563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553861866	chr7:96812606-96812607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550018168	chr7:96812623-96812624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569784997	chr7:96812629-96812630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147918205	chr7:96812636-96812637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548845158	chr7:96812658-96812659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185230373	chr7:96812730-96812731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371095725	chr7:96812740-96812741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140108307	chr7:96812750-96812751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570823705	chr7:96812773-96812774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539776723	chr7:96812819-96812820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145623037	chr7:96812840-96812841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530246611	chr7:96812852-96812853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141446532	chr7:96812859-96812860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73708886	chr7:96812901-96812902	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536273231	chr7:96812972-96812973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562798861	chr7:96812975-96812976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572361648	chr7:96813029-96813030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541461130	chr7:96813031-96813032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142548149	chr7:96813065-96813066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370881234	chr7:96813066-96813067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375356266	chr7:96813074-96813075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564339802	chr7:96813075-96813076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117324021	chr7:96813092-96813093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80255752	chr7:96813100-96813101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191182077	chr7:96813106-96813107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148817424	chr7:96813131-96813132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80287679	chr7:96813219-96813220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71131008	chr7:96813232-96813233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183455405	chr7:96813245-96813246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529087733	chr7:96813251-96813252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549016171	chr7:96813253-96813254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367836570	chr7:96813254-96813255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374060533	chr7:96813316-96813317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528042379	chr7:96813343-96813344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370144252	chr7:96813360-96813361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550945190	chr7:96813363-96813364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541852930	chr7:96813364-96813365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539738475	chr7:96813366-96813367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561223080	chr7:96813375-96813376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570193303	chr7:96813395-96813396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533072779	chr7:96813404-96813405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528418778	chr7:96813415-96813416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111523998	chr7:96813429-96813430	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:75 , 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	chr7:96800800-96812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:96801200-96815400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:96803000-96818400	Weak transcription	Psoas Muscle	Psoas
17	chr7:96803200-96813400	Weak transcription	Hela-S3	cervix
18	chr7:96804000-96817200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:96804200-96816000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:96804200-96816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:96805000-96814200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:96805400-96819000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:96805800-96813600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:96808800-96813600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:96809000-96813200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:96809200-96812800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:96809400-96817400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:96810000-96818000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:96810200-96813000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:96810200-96815200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:96810400-96812800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:96810600-96814000	Weak transcription	HSMMtube	muscle
33	chr7:96810800-96813400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:96811000-96813400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:96811000-96813400	Weak transcription	Fetal Heart	heart
36	chr7:96811000-96814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:96811200-96813600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:96811200-96813600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:96811200-96813600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:96811400-96812600	Strong transcription	Liver	Liver
41	chr7:96811600-96813000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:96811600-96813200	Strong transcription	Primary T cells from cord blood	blood
43	chr7:96811800-96812600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:96811800-96812600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:96811800-96812600	Strong transcription	Dnd41	blood
46	chr7:96811800-96813200	Strong transcription	K562	blood
47	chr7:96812200-96813000	Strong transcription	GM12878-XiMat	blood
48	chr7:96812200-96814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:96812200-96815600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:96812200-96815600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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