Variant report

Variant	esv3323712
Chromosome Location	chr3:111861311-111890479
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	chr3:111859837..111862167-chr3:112256624..112258984,2	MCF-7	breast:
2	chr3:111858864..111861858-chr3:112359276..112360974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144848	chromatin interactions
ENSG00000091986	chromatin interactions

Extended variants
information (count: 1056 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371843078	chr3:111861395-111861396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558490634	chr3:111861413-111861414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376052677	chr3:111861422-111861423	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184808379	chr3:111861437-111861438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190689199	chr3:111861524-111861525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541070178	chr3:111861526-111861527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560615644	chr3:111861564-111861565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76065339	chr3:111861572-111861573	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34937344	chr3:111861604-111861605	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529575357	chr3:111861660-111861661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542788871	chr3:111861662-111861663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562762118	chr3:111861725-111861726	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs114594048	chr3:111861739-111861740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551593618	chr3:111861796-111861797	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571569950	chr3:111861836-111861837	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527681434	chr3:111861862-111861863	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181535936	chr3:111861867-111861868	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567545833	chr3:111861931-111861932	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536573908	chr3:111861953-111861954	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556359542	chr3:111861974-111861975	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2172314	chr3:111862009-111862010	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2131232	chr3:111862034-111862035	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77156967	chr3:111862083-111862084	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74855271	chr3:111862084-111862085	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397990822	chr3:111862098-111862099	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186969049	chr3:111862112-111862113	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566237995	chr3:111862167-111862168	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189400013	chr3:111862188-111862189	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150032567	chr3:111862212-111862213	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573965392	chr3:111862241-111862242	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542927581	chr3:111862267-111862268	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200929933	chr3:111862288-111862289	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181405108	chr3:111862293-111862294	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185299121	chr3:111862295-111862296	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562701587	chr3:111862308-111862309	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576231796	chr3:111862310-111862311	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369859297	chr3:111862337-111862338	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545628567	chr3:111862340-111862341	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116227095	chr3:111862350-111862351	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555242464	chr3:111862377-111862378	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189954938	chr3:111862378-111862379	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183315659	chr3:111862443-111862444	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561283283	chr3:111862519-111862520	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529976145	chr3:111862522-111862523	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs144361117	chr3:111862525-111862526	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187055759	chr3:111862579-111862580	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371423602	chr3:111862676-111862677	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570014968	chr3:111862683-111862684	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79820991	chr3:111862745-111862746	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543508040	chr3:111862834-111862835	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111852200-111863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:111853400-111867400	Weak transcription	Gastric	stomach
3	chr3:111856200-111867400	Weak transcription	Thymus	Thymus
4	chr3:111856200-111867600	Weak transcription	Left Ventricle	heart
5	chr3:111856400-111861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:111856400-111862400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:111858800-111862400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:111861800-111862400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:111862000-111863000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:111862200-111862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:111862400-111862600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:111862400-111862600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr3:111862400-111862800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr3:111862400-111863000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:111862400-111863000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:111862600-111863000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:111862600-111863000	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr3:111862600-111863000	Enhancers	NHEK	skin
19	chr3:111863000-111863400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:111863000-111867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:111863400-111864400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:111863800-111864000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:111864400-111865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:111865200-111865600	Weak transcription	Aorta	Aorta
25	chr3:111865200-111866600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:111865600-111866600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:111866200-111875800	Weak transcription	Right Ventricle	heart
28	chr3:111866600-111867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:111866600-111867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:111867000-111867400	Weak transcription	Aorta	Aorta
31	chr3:111867200-111867400	Enhancers	NHEK	skin
32	chr3:111867200-111869200	ZNF genes & repeats	HMEC	breast
33	chr3:111867400-111867800	Flanking Active TSS	NHEK	skin
34	chr3:111867400-111868800	ZNF genes & repeats	Gastric	stomach
35	chr3:111867400-111868800	ZNF genes & repeats	Thymus	Thymus
36	chr3:111867400-111869000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:111867400-111869000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:111867400-111869200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:111867600-111868000	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr3:111867600-111868000	ZNF genes & repeats	Pancreas	Pancrea
41	chr3:111867600-111868800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:111867600-111868800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:111867600-111868800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
44	chr3:111867600-111869400	ZNF genes & repeats	Left Ventricle	heart
45	chr3:111867800-111868000	ZNF genes & repeats	Aorta	Aorta
46	chr3:111867800-111868800	ZNF genes & repeats	Fetal Stomach	stomach
47	chr3:111867800-111869000	ZNF genes & repeats	Esophagus	oesophagus
48	chr3:111867800-111869400	Enhancers	NHEK	skin
49	chr3:111868000-111868600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:111868200-111868800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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