Variant report

Variant	esv3336356
Chromosome Location	chr3:112027218-112031669
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	chr3:112030207..112032434-chr3:112262315..112264380,2	K562	blood:

Extended variants
information (count: 167 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551074945	chr3:112027233-112027234	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs6438066	chr3:112027246-112027247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs80093835	chr3:112027262-112027263	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533218996	chr3:112027267-112027268	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184455163	chr3:112027276-112027277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200443149	chr3:112027290-112027291	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188454629	chr3:112027297-112027298	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535621325	chr3:112027337-112027338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181329870	chr3:112027459-112027460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556063275	chr3:112027560-112027561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375594408	chr3:112027618-112027619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13434369	chr3:112027628-112027629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568923548	chr3:112027644-112027645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186384736	chr3:112027675-112027676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112559256	chr3:112027766-112027767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200002187	chr3:112027771-112027772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558524869	chr3:112027772-112027773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111968327	chr3:112027804-112027805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201186622	chr3:112027813-112027814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3082458	chr3:112027818-112027819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1879514	chr3:112027835-112027836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1879513	chr3:112027855-112027856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566457802	chr3:112027961-112027962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8179913	chr3:112027994-112027995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371551510	chr3:112028041-112028042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149582754	chr3:112028100-112028101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555733551	chr3:112028116-112028117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6804712	chr3:112028166-112028167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111371698	chr3:112028179-112028180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544391628	chr3:112028194-112028195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115073911	chr3:112028207-112028208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533385237	chr3:112028226-112028227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9829698	chr3:112028239-112028240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs560461249	chr3:112028256-112028257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189271125	chr3:112028342-112028343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113876799	chr3:112028374-112028375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529245490	chr3:112028414-112028415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569557752	chr3:112028439-112028440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144303880	chr3:112028440-112028441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78401729	chr3:112028462-112028463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532695821	chr3:112028480-112028481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556237040	chr3:112028518-112028519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148453051	chr3:112028525-112028526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577657039	chr3:112028534-112028535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115499906	chr3:112028544-112028545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6805117	chr3:112028586-112028587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553392998	chr3:112028619-112028620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562808648	chr3:112028673-112028674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6780745	chr3:112028703-112028704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6805142	chr3:112028757-112028758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112024000-112028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:112025200-112034600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:112026200-112027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:112026400-112027400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112026400-112027600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:112026400-112027600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:112026400-112027600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:112026600-112027400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:112026600-112028400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:112026800-112027400	Enhancers	Placenta	Placenta
11	chr3:112026800-112027600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:112027000-112027400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:112027000-112027400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:112027000-112027400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:112027000-112027400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:112027000-112027400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:112027000-112027400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:112027000-112027400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:112027000-112027400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:112027000-112027400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:112027000-112027400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:112027000-112027400	Enhancers	Brain Substantia Nigra	brain
23	chr3:112027000-112027400	Enhancers	Fetal Thymus	thymus
24	chr3:112027000-112027400	Enhancers	Ovary	ovary
25	chr3:112027000-112027400	Enhancers	Right Atrium	heart
26	chr3:112027000-112027400	Enhancers	HMEC	breast
27	chr3:112027000-112027600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:112027000-112027600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:112027000-112027600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:112027000-112027600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:112027000-112027600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112027000-112028000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:112027200-112027400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:112027200-112027400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:112027200-112027400	Enhancers	NH-A	brain
36	chr3:112027200-112027600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:112027400-112028600	Weak transcription	Placenta	Placenta
38	chr3:112027400-112029800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:112027400-112031400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:112027400-112032800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:112027600-112028000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:112027600-112030800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:112027600-112032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:112027600-112033000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:112028000-112028600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:112028000-112028600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr3:112028600-112030000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:112028600-112034000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:112028800-112029000	Enhancers	Placenta	Placenta
50	chr3:112029800-112030000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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