Variant report

Variant	esv2265706
Chromosome Location	chr3:113275541-113276040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113230896..113236069-chr3:113272608..113276294,6	MCF-7	breast:
2	chr3:113254658..113255498-chr3:113275897..113276863,4	MCF-7	breast:
3	chr3:113233433..113235581-chr3:113273255..113276149,3	MCF-7	breast:
4	chr3:113274620..113277529-chr3:113285320..113288122,4	MCF-7	breast:
5	chr3:113270774..113272504-chr3:113274583..113276663,3	MCF-7	breast:
6	chr3:113276000..113278801-chr3:113288108..113290527,2	MCF-7	breast:
7	chr3:113206409..113208737-chr3:113273069..113276271,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163611	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4682492	chr3:113275541-113275542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552276580	chr3:113275596-113275597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565269149	chr3:113275616-113275617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7611694	chr3:113275624-113275625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
5	rs181959936	chr3:113275629-113275630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373200669	chr3:113275633-113275634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370708670	chr3:113275662-113275663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57277317	chr3:113275668-113275669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376872899	chr3:113275669-113275670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61672960	chr3:113275684-113275685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78857461	chr3:113275685-113275686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536802798	chr3:113275716-113275717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375230514	chr3:113275720-113275721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528042312	chr3:113275821-113275822	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375439971	chr3:113275822-113275823	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150482095	chr3:113275823-113275824	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552721077	chr3:113275824-113275825	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546195327	chr3:113275872-113275873	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559744738	chr3:113275886-113275887	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538394814	chr3:113275933-113275934	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556975393	chr3:113275947-113275948	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575096423	chr3:113275955-113275956	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76225446	chr3:113275990-113275991	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73854514	chr3:113275994-113275995	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563181822	chr3:113276006-113276007	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572838395	chr3:113276015-113276016	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113255400-113278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:113255600-113278400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:113256000-113279000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:113257200-113277400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:113257200-113283400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:113261200-113276200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:113262600-113278800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:113266800-113276400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:113267400-113276200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:113267400-113278400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:113268200-113279400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:113269200-113276600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:113269400-113276200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:113271000-113277600	Enhancers	HepG2	liver
15	chr3:113271400-113276400	Weak transcription	Stomach Mucosa	stomach
16	chr3:113272000-113276600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:113272200-113276000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:113273200-113275800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr3:113273200-113276200	Weak transcription	GM12878-XiMat	blood
20	chr3:113273800-113276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:113274000-113278200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr3:113274400-113278800	Weak transcription	Primary T cells from cord blood	blood
23	chr3:113275000-113276000	Enhancers	A549	lung
24	chr3:113275200-113276000	Enhancers	NHEK	skin
25	chr3:113275200-113277000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:113275200-113277000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:113275200-113277000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:113275200-113277000	Enhancers	HMEC	breast
29	chr3:113275400-113275800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:113275400-113276200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:113275800-113276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:113275800-113276200	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr3:113275800-113276600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:113275800-113276800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:113275800-113276800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:113276000-113276400	Enhancers	HSMM	muscle
37	chr3:113276000-113276400	Flanking Active TSS	NHEK	skin
38	chr3:113276000-113276800	Enhancers	Hela-S3	cervix
39	chr3:113276000-113276800	Enhancers	HUVEC	blood vessel
40	chr3:113276000-113277600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:113276000-113277600	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links