Variant report

Variant	esv3418185
Chromosome Location	chr7:39823325-39825319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539214097	chr7:39823331-39823332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549957221	chr7:39823339-39823340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569605410	chr7:39823344-39823345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535534005	chr7:39823402-39823403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555213415	chr7:39823439-39823440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572057222	chr7:39823446-39823447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539357400	chr7:39823467-39823468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200419858	chr7:39823503-39823504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201467992	chr7:39823504-39823505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536269709	chr7:39823550-39823551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75134806	chr7:39823567-39823568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534635617	chr7:39823578-39823579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554479597	chr7:39823652-39823653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577625646	chr7:39823671-39823672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546037625	chr7:39823676-39823677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199808790	chr7:39823696-39823697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563098116	chr7:39823712-39823713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2079421	chr7:39823729-39823730	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192278854	chr7:39823752-39823753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372532450	chr7:39823753-39823754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561879306	chr7:39823760-39823761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527656651	chr7:39823765-39823766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184809682	chr7:39823796-39823797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563998516	chr7:39823818-39823819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573521167	chr7:39823839-39823840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549854581	chr7:39823896-39823897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377025840	chr7:39823914-39823915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188124886	chr7:39823926-39823927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115469556	chr7:39823996-39823997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565805531	chr7:39824014-39824015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550985236	chr7:39824031-39824032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369780655	chr7:39824112-39824113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534561362	chr7:39824114-39824115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192949668	chr7:39824306-39824307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569146675	chr7:39824310-39824311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184198907	chr7:39824324-39824325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373926398	chr7:39824340-39824341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556624474	chr7:39824392-39824393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576562733	chr7:39824437-39824438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542085607	chr7:39824438-39824439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376154780	chr7:39824461-39824462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555413333	chr7:39824474-39824475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572218048	chr7:39824488-39824489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540981165	chr7:39824523-39824524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200586569	chr7:39824579-39824580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564137556	chr7:39824622-39824623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188300038	chr7:39824627-39824628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181801890	chr7:39824628-39824629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563444063	chr7:39824645-39824646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185081042	chr7:39824678-39824679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
3	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:39801600-39831600	Weak transcription	Gastric	stomach
9	chr7:39801600-39833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:39801800-39831000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:39801800-39831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:39802000-39830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:39802000-39835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:39802600-39833000	Weak transcription	Dnd41	blood
15	chr7:39802800-39830800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:39802800-39835000	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:39803000-39824400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:39803400-39832000	Weak transcription	Fetal Thymus	thymus
19	chr7:39805200-39834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:39805400-39831000	Weak transcription	Fetal Brain Female	brain
21	chr7:39805600-39823400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:39807400-39830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:39807800-39830800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:39807800-39830800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:39807800-39830800	Weak transcription	Thymus	Thymus
26	chr7:39807800-39832800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:39808200-39833000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:39808200-39833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:39808400-39832800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:39808400-39833200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:39809400-39830800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:39810200-39831400	Weak transcription	Lung	lung
33	chr7:39810600-39837200	Weak transcription	Brain Substantia Nigra	brain
34	chr7:39811000-39835800	Weak transcription	Brain Germinal Matrix	brain
35	chr7:39811200-39831000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:39811400-39828800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:39811400-39830800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:39812200-39823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:39812400-39830200	Weak transcription	Aorta	Aorta
40	chr7:39812400-39830800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:39812400-39837400	Weak transcription	Fetal Intestine Large	intestine
42	chr7:39812400-39837600	Weak transcription	Spleen	Spleen
43	chr7:39819800-39825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:39820200-39824000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr7:39820200-39830800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:39820600-39824200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:39820600-39833000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:39821400-39830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:39821400-39839000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:39821600-39823400	Weak transcription	Fetal Stomach	stomach

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