Variant report

Variant	esv3693435
Chromosome Location	chr2:153210444-153219178
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	chr2:153190296..153193237-chr2:153215278..153217205,2	MCF-7	breast:
2	chr2:153215582..153217923-chr2:153232272..153234724,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2345903	chr2:153210444-153210445	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548253569	chr2:153210457-153210458	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561819479	chr2:153210492-153210493	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554660619	chr2:153210539-153210540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147266491	chr2:153210549-153210550	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80319126	chr2:153210550-153210551	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4036050	chr2:153210551-153210552	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527797463	chr2:153210559-153210560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113268733	chr2:153210578-153210579	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147211574	chr2:153210635-153210636	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140617159	chr2:153210708-153210709	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552487724	chr2:153210715-153210716	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568944798	chr2:153210757-153210758	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36013532	chr2:153210849-153210850	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397873587	chr2:153210860-153210861	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72281563	chr2:153210892-153210893	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373235758	chr2:153210894-153210895	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34581620	chr2:153210958-153210959	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554817332	chr2:153210972-153210973	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574542400	chr2:153210975-153210976	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144369927	chr2:153210981-153210982	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558481137	chr2:153211010-153211011	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180700250	chr2:153211011-153211012	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185137007	chr2:153211098-153211099	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147835323	chr2:153211110-153211111	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563222845	chr2:153211122-153211123	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191310507	chr2:153211146-153211147	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181200334	chr2:153211179-153211180	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577184425	chr2:153211195-153211196	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6734534	chr2:153211213-153211214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6704965	chr2:153211284-153211285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547535238	chr2:153211290-153211291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574876196	chr2:153211353-153211354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564316459	chr2:153211379-153211380	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533401613	chr2:153211440-153211441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562837450	chr2:153211488-153211489	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375633696	chr2:153211574-153211575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs148850200	chr2:153211580-153211581	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs569097037	chr2:153211598-153211599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542044207	chr2:153211682-153211683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531643940	chr2:153211718-153211719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186708228	chr2:153211743-153211744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191545522	chr2:153211818-153211819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10497100	chr2:153211868-153211869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183200307	chr2:153211882-153211883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187707302	chr2:153211884-153211885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539390239	chr2:153211929-153211930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555902622	chr2:153211933-153211934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191080310	chr2:153211938-153211939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542122720	chr2:153211995-153211996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
3	chr2:153194600-153214600	Weak transcription	Gastric	stomach
4	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
6	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
8	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
10	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:153200800-153210600	Weak transcription	Psoas Muscle	Psoas
14	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
17	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
19	chr2:153202400-153211000	Weak transcription	NHEK	skin
20	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
21	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
23	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:153205200-153211400	Weak transcription	Adipose Nuclei	Adipose
27	chr2:153205200-153216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:153205400-153223800	Weak transcription	HMEC	breast
29	chr2:153206400-153210800	Weak transcription	Fetal Brain Female	brain
30	chr2:153206600-153214400	Weak transcription	Left Ventricle	heart
31	chr2:153206800-153210600	Weak transcription	Fetal Brain Male	brain
32	chr2:153206800-153215600	Weak transcription	Pancreas	Pancrea
33	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:153207000-153214400	Weak transcription	Lung	lung
35	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:153208200-153210600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:153208200-153212200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:153208400-153212000	Enhancers	Brain Hippocampus Middle	brain
40	chr2:153208400-153212600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:153208400-153212600	Enhancers	Brain Substantia Nigra	brain
42	chr2:153208400-153212800	Enhancers	Brain Angular Gyrus	brain
43	chr2:153208400-153212800	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:153208400-153212800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:153208600-153211600	Enhancers	Brain Anterior Caudate	brain
46	chr2:153209200-153210800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:153209200-153211000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:153209200-153211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:153209600-153211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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