Variant report

Variant	esv3396829
Chromosome Location	chr3:134690412-134692410
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	chr3:134670207..134673023-chr3:134688821..134691750,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7629642	chr3:134690466-134690467	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551981938	chr3:134690489-134690490	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182207977	chr3:134690500-134690501	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77249674	chr3:134690504-134690505	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548471802	chr3:134690543-134690544	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567915244	chr3:134690547-134690548	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537087941	chr3:134690570-134690571	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557081290	chr3:134690606-134690607	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577051003	chr3:134690695-134690696	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539546659	chr3:134690707-134690708	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553056718	chr3:134690719-134690720	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187211625	chr3:134690723-134690724	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57707921	chr3:134690751-134690752	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539565713	chr3:134690771-134690772	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191691268	chr3:134690786-134690787	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149561899	chr3:134690788-134690789	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183558700	chr3:134690849-134690850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375350529	chr3:134690925-134690926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556073219	chr3:134690969-134690970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186956121	chr3:134690974-134690975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544233539	chr3:134691047-134691048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564218741	chr3:134691066-134691067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533225199	chr3:134691075-134691076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190267090	chr3:134691084-134691085	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182198149	chr3:134691102-134691103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528290193	chr3:134691106-134691107	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541426101	chr3:134691134-134691135	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548182863	chr3:134691136-134691137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149188416	chr3:134691166-134691167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35255389	chr3:134691167-134691168	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73214158	chr3:134691168-134691169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139653616	chr3:134691176-134691177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34028010	chr3:134691204-134691205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72294039	chr3:134691206-134691207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144300698	chr3:134691245-134691246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530498908	chr3:134691261-134691262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369613697	chr3:134691283-134691284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372849035	chr3:134691326-134691327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71997720	chr3:134691330-134691331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199847087	chr3:134691363-134691364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13059166	chr3:134691366-134691367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28481268	chr3:134691367-134691368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371835754	chr3:134691378-134691379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376350469	chr3:134691395-134691396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370728732	chr3:134691397-134691398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367782365	chr3:134691399-134691400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374040074	chr3:134691404-134691405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570479495	chr3:134691418-134691419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139124144	chr3:134691425-134691426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9864852	chr3:134691454-134691455	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134671000-134693400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:134671000-134697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:134677400-134697400	Weak transcription	GM12878-XiMat	blood
4	chr3:134677800-134697000	Weak transcription	Psoas Muscle	Psoas
5	chr3:134678600-134699400	Weak transcription	Aorta	Aorta
6	chr3:134680200-134692800	Weak transcription	Spleen	Spleen
7	chr3:134685800-134691800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:134689000-134690800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:134689400-134690600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:134689400-134691400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:134689600-134690800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:134689800-134690800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:134689800-134690800	Genic enhancers	Fetal Brain Female	brain
14	chr3:134689800-134691200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:134690000-134690600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:134690000-134690600	Enhancers	Brain Anterior Caudate	brain
17	chr3:134690000-134691000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:134690000-134691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:134690200-134690600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:134690400-134690600	Enhancers	Fetal Brain Male	brain
21	chr3:134690400-134691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:134690600-134693000	Weak transcription	Fetal Brain Male	brain
23	chr3:134690600-134693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:134690600-134702400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:134690800-134701200	Weak transcription	Fetal Brain Female	brain
26	chr3:134691400-134691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:134691800-134692000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:134691800-134692000	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:134692000-134692200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:134692000-134693200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:134692200-134692800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links