Variant report

Variant	esv1940302
Chromosome Location	chr7:97769264-97769665
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	chr7:97762740..97765611-chr7:97766215..97769576,3	K562	blood:
2	chr7:97768037..97770544-chr7:97772869..97774678,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189570822	chr7:97769296-97769297	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs181150856	chr7:97769315-97769316	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs576709747	chr7:97769338-97769339	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs573139813	chr7:97769367-97769368	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs540889526	chr7:97769371-97769372	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs6945999	chr7:97769372-97769373	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6966172	chr7:97769393-97769394	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs147664658	chr7:97769395-97769396	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs542217241	chr7:97769396-97769397	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs200066120	chr7:97769397-97769398	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs531073007	chr7:97769401-97769402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149301759	chr7:97769403-97769404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373176680	chr7:97769408-97769409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139815511	chr7:97769411-97769412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552789196	chr7:97769414-97769415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145810005	chr7:97769419-97769420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67935029	chr7:97769423-97769424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571024578	chr7:97769426-97769427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140959710	chr7:97769427-97769428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528718480	chr7:97769430-97769431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141570932	chr7:97769431-97769432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199859431	chr7:97769434-97769435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140084937	chr7:97769435-97769436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568748527	chr7:97769436-97769437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10257410	chr7:97769439-97769440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144763440	chr7:97769443-97769444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372314088	chr7:97769447-97769448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112234318	chr7:97769451-97769452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373010323	chr7:97769455-97769456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377291284	chr7:97769456-97769457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376229688	chr7:97769470-97769471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370445828	chr7:97769475-97769476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374946261	chr7:97769480-97769481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367662383	chr7:97769489-97769490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370499076	chr7:97769497-97769498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150486734	chr7:97769498-97769499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58310428	chr7:97769500-97769501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141062361	chr7:97769504-97769505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367562048	chr7:97769505-97769506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58426221	chr7:97769506-97769507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374877736	chr7:97769508-97769509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200133606	chr7:97769509-97769510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369256098	chr7:97769510-97769511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554599272	chr7:97769516-97769517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77068660	chr7:97769592-97769593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536782522	chr7:97769632-97769633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7783834	chr7:97769637-97769638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576598355	chr7:97769665-97769666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
3	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:97760600-97772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
7	chr7:97763200-97770800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:97763200-97771200	Weak transcription	Colonic Mucosa	Colon
9	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:97763400-97772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:97763400-97821000	Weak transcription	NHLF	lung
14	chr7:97763600-97770800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:97763600-97771600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:97763600-97772000	Weak transcription	NHDF-Ad	bronchial
17	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:97763600-97793000	Weak transcription	NH-A	brain
19	chr7:97763600-97814200	Weak transcription	Osteobl	bone
20	chr7:97763600-97815800	Weak transcription	HSMM	muscle
21	chr7:97763800-97770800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:97763800-97784000	Weak transcription	HUVEC	blood vessel
23	chr7:97764000-97770800	Weak transcription	Brain Substantia Nigra	brain
24	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
25	chr7:97764400-97770200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:97764400-97770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:97764400-97780800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:97765400-97771800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:97765400-97780800	Weak transcription	Brain Angular Gyrus	brain
30	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:97766000-97773600	Strong transcription	Primary T cells from cord blood	blood
32	chr7:97766000-97776200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:97766000-97778400	Weak transcription	Small Intestine	intestine
34	chr7:97766000-97778800	Strong transcription	Dnd41	blood
35	chr7:97766000-97795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:97766200-97773800	Strong transcription	Fetal Intestine Small	intestine
37	chr7:97766200-97774200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:97766200-97781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:97766200-97790000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:97766400-97769400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:97766400-97771800	Weak transcription	Hela-S3	cervix
42	chr7:97766400-97775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:97766400-97786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:97766600-97772800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:97766600-97773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:97766600-97798400	Weak transcription	HSMMtube	muscle
47	chr7:97766800-97769600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:97766800-97773400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:97766800-97774400	Strong transcription	Fetal Intestine Large	intestine
50	chr7:97766800-97774400	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links