Variant report

Variant	esv3517520
Chromosome Location	chr3:162761299-162807613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
2	chr3:162774576..162775267-chr3:162991199..162992106,3	MCF-7	breast:
3	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
4	chr3:156892021..156894345-chr3:162787273..162789725,2	MCF-7	breast:
5	chr3:162776529..162777484-chr3:163340191..163340771,2	MCF-7	breast:
6	chr3:162755966..162757761-chr3:162760804..162762764,2	MCF-7	breast:
7	chr3:162774415..162775478-chr3:163207241..163208645,5	MCF-7	breast:
8	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243176	chromatin interactions

Extended variants
information (count: 605 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552344938	chr3:162761304-162761305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571431204	chr3:162761311-162761312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533715061	chr3:162761326-162761327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547312454	chr3:162761330-162761331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567201906	chr3:162761331-162761332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144811482	chr3:162761332-162761333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147942354	chr3:162761373-162761374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4568162	chr3:162761378-162761379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538735126	chr3:162761452-162761453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191368715	chr3:162761491-162761492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140578824	chr3:162761509-162761510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150485424	chr3:162761511-162761512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562797769	chr3:162761522-162761523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144875212	chr3:162761529-162761530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182686273	chr3:162761540-162761541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187363884	chr3:162761549-162761550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149040252	chr3:162761553-162761554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543887765	chr3:162761556-162761557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372913018	chr3:162761587-162761588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563706161	chr3:162761588-162761589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73016965	chr3:162761599-162761600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546295790	chr3:162761630-162761631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559561037	chr3:162761656-162761657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11706076	chr3:162761748-162761749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547173877	chr3:162761750-162761751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112234502	chr3:162761751-162761752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371719558	chr3:162761798-162761799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79060660	chr3:162761820-162761821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529941979	chr3:162761836-162761837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77904691	chr3:162761855-162761856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569647638	chr3:162761878-162761879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184381952	chr3:162761919-162761920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558645581	chr3:162761945-162761946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9682970	chr3:162761954-162761955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535271819	chr3:162761989-162761990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188935097	chr3:162762003-162762004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575042514	chr3:162762030-162762031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544139395	chr3:162762038-162762039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374869527	chr3:162762067-162762068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577190912	chr3:162762149-162762150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551195771	chr3:162762150-162762151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545857646	chr3:162762154-162762155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114774979	chr3:162762185-162762186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80115212	chr3:162762206-162762207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59446693	chr3:162762280-162762281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193126164	chr3:162762281-162762282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34957337	chr3:162762288-162762289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560756735	chr3:162762325-162762326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529804175	chr3:162762401-162762402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550070298	chr3:162762413-162762414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162762000-162763200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:162762600-162763400	Enhancers	Adipose Nuclei	Adipose
4	chr3:162762600-162764000	Enhancers	Dnd41	blood
5	chr3:162764000-162764400	Flanking Active TSS	Dnd41	blood
6	chr3:162764400-162765000	Enhancers	Dnd41	blood
7	chr3:162765000-162769000	Weak transcription	Dnd41	blood
8	chr3:162765600-162766000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:162769000-162770200	Enhancers	Dnd41	blood
10	chr3:162771600-162772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:162775000-162776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:162775400-162775800	Enhancers	Colon Smooth Muscle	Colon
13	chr3:162775400-162776000	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:162775600-162776200	Enhancers	Adipose Nuclei	Adipose
15	chr3:162775600-162776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:162775600-162776600	Enhancers	Fetal Stomach	stomach
17	chr3:162775600-162776600	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:162775800-162776200	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr3:162776000-162776200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr3:162776000-162776400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:162776000-162776600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:162776000-162776600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:162776200-162776600	Enhancers	Fetal Lung	lung
24	chr3:162776200-162776600	Enhancers	Fetal Muscle Leg	muscle
25	chr3:162776200-162776600	Active TSS	Stomach Smooth Muscle	stomach
26	chr3:162776200-162776800	Enhancers	Colon Smooth Muscle	Colon
27	chr3:162776600-162777600	Weak transcription	Fetal Stomach	stomach
28	chr3:162777600-162777800	Enhancers	Fetal Stomach	stomach
29	chr3:162789000-162789600	Enhancers	Hela-S3	cervix
30	chr3:162789400-162789600	Weak transcription	Aorta	Aorta
31	chr3:162789400-162789800	Enhancers	Fetal Lung	lung
32	chr3:162789600-162789800	Enhancers	Aorta	Aorta
33	chr3:162789800-162790800	Weak transcription	Aorta	Aorta
34	chr3:162790600-162792200	ZNF genes & repeats	Dnd41	blood
35	chr3:162790800-162792000	ZNF genes & repeats	Aorta	Aorta
36	chr3:162791000-162792000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:162791200-162792000	ZNF genes & repeats	Spleen	Spleen
38	chr3:162791800-162792000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:162791800-162792000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:162791800-162792000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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