Variant report

Variant	esv3345954
Chromosome Location	chr7:38759327-38761275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557799035	chr7:38759334-38759335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367935258	chr7:38759359-38759360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559985955	chr7:38759367-38759368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116473506	chr7:38759404-38759405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551910630	chr7:38759426-38759427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150509276	chr7:38759434-38759435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577586028	chr7:38759446-38759447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73370712	chr7:38759474-38759475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs66796288	chr7:38759534-38759535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185485345	chr7:38759576-38759577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369448932	chr7:38759624-38759625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189604708	chr7:38759650-38759651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180910927	chr7:38759655-38759656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370455911	chr7:38759676-38759677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201978979	chr7:38759716-38759717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573532113	chr7:38759730-38759731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186225940	chr7:38759732-38759733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374815206	chr7:38759772-38759773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191952197	chr7:38759812-38759813	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11978898	chr7:38759848-38759849	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs544279753	chr7:38759857-38759858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138413129	chr7:38759943-38759944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200200607	chr7:38759959-38759960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201111023	chr7:38759961-38759962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13242983	chr7:38760071-38760072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13228810	chr7:38760073-38760074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576293916	chr7:38760074-38760075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566690908	chr7:38760086-38760087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576155408	chr7:38760088-38760089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559931753	chr7:38760090-38760091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13228613	chr7:38760100-38760101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77909050	chr7:38760144-38760145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76692252	chr7:38760150-38760151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112027197	chr7:38760152-38760153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111543326	chr7:38760158-38760159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113933214	chr7:38760159-38760160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376382898	chr7:38760161-38760162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28375705	chr7:38760162-38760163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527274041	chr7:38760164-38760165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184204898	chr7:38760201-38760202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539795249	chr7:38760304-38760305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115780924	chr7:38760393-38760394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532261891	chr7:38760420-38760421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73370716	chr7:38760423-38760424	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542596083	chr7:38760446-38760447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75771101	chr7:38760460-38760461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73119708	chr7:38760463-38760464	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs66662538	chr7:38760539-38760540	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536651820	chr7:38760541-38760542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546976926	chr7:38760556-38760557	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
Gastrointestinal stromal cancer	20818650	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
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38749000-38803600	Weak transcription	Fetal Brain Male	brain
2	chr7:38754200-38760600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:38754600-38759800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:38754600-38760800	Weak transcription	GM12878-XiMat	blood
5	chr7:38755000-38791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:38755600-38760800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:38755800-38771600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:38756200-38763800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:38756400-38760600	Weak transcription	Primary T cells from cord blood	blood
10	chr7:38756400-38764600	Weak transcription	Fetal Brain Female	brain
11	chr7:38756800-38764800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:38757000-38784200	Weak transcription	HMEC	breast
13	chr7:38757200-38764400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:38757200-38764600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:38757200-38764600	Weak transcription	Ovary	ovary
16	chr7:38757200-38835400	Weak transcription	Psoas Muscle	Psoas
17	chr7:38757400-38760600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:38757400-38760600	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:38757400-38764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:38757600-38760200	Weak transcription	Fetal Stomach	stomach
21	chr7:38757600-38760400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:38757600-38760600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:38757600-38760600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:38757600-38760600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:38757600-38760600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:38757600-38760800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:38757600-38761000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:38757800-38760200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:38757800-38760600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:38757800-38760800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:38758000-38760600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:38758200-38760600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:38758200-38760800	Weak transcription	Primary B cells from cord blood	blood
34	chr7:38758400-38760600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:38758400-38760600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:38758400-38760600	Weak transcription	Dnd41	blood
37	chr7:38758600-38760600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:38758600-38760800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:38758600-38764400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:38758600-38764800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:38758600-38767000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:38758600-38767800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:38758600-38780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:38758800-38760400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:38758800-38760600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:38758800-38760600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:38758800-38760600	Weak transcription	Liver	Liver
48	chr7:38758800-38760600	Weak transcription	Left Ventricle	heart
49	chr7:38758800-38760600	Weak transcription	Pancreas	Pancrea
50	chr7:38758800-38760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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