Variant report

Variant	esv3436195
Chromosome Location	chr3:101608162-101612460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101601882..101603837-chr3:101610958..101613952,2	MCF-7	breast:
2	chr3:101612357..101614518-chr3:101615231..101617299,2	K562	blood:
3	chr3:101604292..101607119-chr3:101609303..101612287,2	MCF-7	breast:
4	chr3:101570052..101571665-chr3:101611707..101614656,2	MCF-7	breast:
5	chr3:101611977..101614577-chr3:101618423..101621104,2	K562	blood:
6	chr3:101609413..101611144-chr3:101614360..101616706,2	MCF-7	breast:

Extended variants
information (count: 232 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187786423	chr3:101608162-101608163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148439637	chr3:101608164-101608165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558161335	chr3:101608201-101608202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143624317	chr3:101608342-101608343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74458302	chr3:101608358-101608359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191496187	chr3:101608386-101608387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75457012	chr3:101608400-101608401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75417967	chr3:101608434-101608435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370209543	chr3:101608483-101608484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113183471	chr3:101608518-101608519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563502185	chr3:101608527-101608528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71103704	chr3:101608534-101608535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71103705	chr3:101608548-101608549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182411417	chr3:101608555-101608556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147195497	chr3:101608563-101608564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140576157	chr3:101608607-101608608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186918505	chr3:101608633-101608634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192445742	chr3:101608654-101608655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557050054	chr3:101608663-101608664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567686600	chr3:101608667-101608668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572062713	chr3:101608744-101608745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528962708	chr3:101608807-101608808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550355356	chr3:101608808-101608809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569478021	chr3:101608811-101608812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367649396	chr3:101608909-101608910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558462853	chr3:101608911-101608912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567031200	chr3:101608949-101608950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78306314	chr3:101608982-101608983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555812290	chr3:101609000-101609001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574038285	chr3:101609040-101609041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371206903	chr3:101609131-101609132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544764499	chr3:101609163-101609164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556374466	chr3:101609177-101609178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575430540	chr3:101609180-101609181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545661376	chr3:101609221-101609222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564281430	chr3:101609222-101609223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185097207	chr3:101609250-101609251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147857808	chr3:101609286-101609287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539209638	chr3:101609292-101609293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540099151	chr3:101609372-101609373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561347455	chr3:101609373-101609374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139246597	chr3:101609404-101609405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149994583	chr3:101609440-101609441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201135052	chr3:101609458-101609459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562426697	chr3:101609489-101609490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114507307	chr3:101609518-101609519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551703234	chr3:101609635-101609636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs606407	chr3:101609650-101609651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs534500658	chr3:101609717-101609718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549696955	chr3:101609834-101609835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101606000-101609600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:101606200-101609200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr3:101606400-101608400	Enhancers	Colon Smooth Muscle	Colon
4	chr3:101607000-101608200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr3:101607000-101608200	Enhancers	Stomach Smooth Muscle	stomach
6	chr3:101607800-101608800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:101607800-101608800	Weak transcription	Psoas Muscle	Psoas
8	chr3:101607800-101609200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:101607800-101609600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:101607800-101614600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:101608000-101609200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:101608000-101609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:101608000-101609800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:101608000-101611000	Weak transcription	Aorta	Aorta
15	chr3:101608200-101609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:101608800-101609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:101609000-101609200	Enhancers	Psoas Muscle	Psoas
18	chr3:101609000-101609800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:101609000-101609800	Enhancers	NH-A	brain
20	chr3:101609200-101610000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:101609200-101610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:101609200-101611000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:101609400-101609800	Enhancers	Osteobl	bone
24	chr3:101609600-101609800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:101609600-101609800	Enhancers	Liver	Liver
26	chr3:101609600-101609800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr3:101609600-101610000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:101609600-101610200	Enhancers	HUVEC	blood vessel
29	chr3:101609600-101611000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr3:101609800-101610000	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:101609800-101611400	Weak transcription	Liver	Liver
32	chr3:101610200-101610600	Weak transcription	HUVEC	blood vessel
33	chr3:101610600-101611200	Enhancers	HUVEC	blood vessel
34	chr3:101610800-101611200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:101610800-101611400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:101611000-101611200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:101611000-101611200	ZNF genes & repeats	Aorta	Aorta
38	chr3:101611000-101611200	Enhancers	Lung	lung
39	chr3:101611000-101611200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr3:101611400-101611800	Enhancers	Liver	Liver

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