Variant report

Variant	esv1839661
Chromosome Location	chr3:101133155-101134696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7622940	chr3:101133155-101133156	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138526108	chr3:101133160-101133161	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541028530	chr3:101133161-101133162	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559793052	chr3:101133202-101133203	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564543133	chr3:101133311-101133312	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530174139	chr3:101133312-101133313	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542789109	chr3:101133325-101133326	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141560966	chr3:101133358-101133359	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538812548	chr3:101133359-101133360	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531554518	chr3:101133360-101133361	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550063185	chr3:101133384-101133385	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144044275	chr3:101133411-101133412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532144959	chr3:101133416-101133417	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144510279	chr3:101133426-101133427	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565754131	chr3:101133482-101133483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535992027	chr3:101133509-101133510	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72942217	chr3:101133510-101133511	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190253729	chr3:101133530-101133531	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374832190	chr3:101133593-101133594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537257065	chr3:101133627-101133628	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558777135	chr3:101133661-101133662	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577163420	chr3:101133680-101133681	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541404833	chr3:101133682-101133683	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532627378	chr3:101133699-101133700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369962012	chr3:101133734-101133735	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377238354	chr3:101133737-101133738	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553125647	chr3:101133739-101133740	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574852270	chr3:101133783-101133784	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180696339	chr3:101133798-101133799	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547724245	chr3:101133840-101133841	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534420584	chr3:101133870-101133871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111871315	chr3:101133881-101133882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377725582	chr3:101133900-101133901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371092932	chr3:101133901-101133902	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201066881	chr3:101133931-101133932	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1281896	chr3:101133939-101133940	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554096262	chr3:101133948-101133949	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557502152	chr3:101133949-101133950	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115478976	chr3:101133960-101133961	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202211269	chr3:101133987-101133988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200109977	chr3:101134002-101134003	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145878320	chr3:101134003-101134004	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200841781	chr3:101134004-101134005	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186108915	chr3:101134045-101134046	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6777409	chr3:101134057-101134058	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs141494961	chr3:101134066-101134067	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575663488	chr3:101134081-101134082	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375497631	chr3:101134082-101134083	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376187326	chr3:101134095-101134096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559058922	chr3:101134182-101134183	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101085600-101137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:101107000-101140800	Weak transcription	Esophagus	oesophagus
3	chr3:101107200-101161200	Weak transcription	Aorta	Aorta
4	chr3:101108600-101138000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:101109400-101133600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:101111600-101138000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:101111600-101145800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:101111800-101134800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:101114600-101134800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:101120000-101133400	Weak transcription	Ovary	ovary
11	chr3:101120000-101142400	Weak transcription	Fetal Stomach	stomach
12	chr3:101124200-101140800	Weak transcription	Fetal Intestine Small	intestine
13	chr3:101126600-101135200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:101127400-101135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:101127400-101136800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:101127400-101143200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:101128000-101138400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:101128400-101133200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr3:101128400-101133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:101128400-101133800	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:101128600-101146200	Weak transcription	Dnd41	blood
22	chr3:101128800-101133600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:101128800-101133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:101129200-101160000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:101129400-101133200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:101129400-101137000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:101129600-101137200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:101129600-101140800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:101131200-101134600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:101131200-101139000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:101131200-101142400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:101131400-101134600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:101131600-101142400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:101132200-101133400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:101132400-101133800	Strong transcription	Primary B cells from cord blood	blood
36	chr3:101132600-101134000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:101132600-101136800	Weak transcription	Fetal Lung	lung
38	chr3:101132800-101133200	Enhancers	Fetal Heart	heart
39	chr3:101132800-101133400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:101132800-101133800	Genic enhancers	Primary T cells from cord blood	blood
41	chr3:101132800-101134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:101132800-101135000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:101132800-101135000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:101133000-101133200	Enhancers	Left Ventricle	heart
45	chr3:101133000-101133200	Strong transcription	Lung	lung
46	chr3:101133000-101133200	Enhancers	Psoas Muscle	Psoas
47	chr3:101133000-101133400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:101133000-101133400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:101133000-101133400	Strong transcription	Fetal Thymus	thymus
50	chr3:101133000-101133400	Genic enhancers	Gastric	stomach

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