Variant report

Variant	rs900691
Chromosome Location	chr3:47462587-47462588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47462559..47463377-chr3:47517045..47517970,3	MCF-7	breast:
2	chr3:47462251..47462802-chr3:47554806..47555708,4	MCF-7	breast:
3	chr3:47460494..47462590-chr3:47469043..47471406,2	K562	blood:
4	chr3:47421407..47424002-chr3:47461205..47462744,2	K562	blood:
5	chr3:47461509..47464905-chr3:47467197..47468812,4	K562	blood:
6	chr3:47462501..47465704-chr3:47552223..47556756,6	MCF-7	breast:
7	chr3:47462059..47463174-chr3:47516921..47518022,7	K562	blood:
8	chr3:47462473..47463111-chr3:47517060..47518005,2	MCF-7	breast:
9	chr3:47462410..47464482-chr3:47553675..47556809,5	MCF-7	breast:
10	chr3:47462092..47463205-chr3:47555080..47555844,5	K562	blood:
11	chr3:47450663..47453382-chr3:47461645..47463185,2	MCF-7	breast:
12	chr3:47462545..47463082-chr3:47554897..47555721,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000076201	Chromatin interaction
ENSG00000260236	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000114650	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs1038393	1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	1.00[EUR][1000 genomes]
rs1091068	1.00[EUR][1000 genomes]
rs11707272	1.00[EUR][1000 genomes]
rs11711725	1.00[YRI][hapmap]
rs11922925	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631697	1.00[EUR][1000 genomes]
rs13077134	1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs1531874	1.00[EUR][1000 genomes]
rs1809487	1.00[AMR][1000 genomes]
rs1872165	1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs295431	1.00[EUR][1000 genomes]
rs295432	1.00[EUR][1000 genomes]
rs295434	1.00[EUR][1000 genomes]
rs295443	1.00[EUR][1000 genomes]
rs295444	1.00[EUR][1000 genomes]
rs295445	1.00[EUR][1000 genomes]
rs295448	1.00[EUR][1000 genomes]
rs295450	1.00[EUR][1000 genomes]
rs295451	1.00[EUR][1000 genomes]
rs295453	1.00[EUR][1000 genomes]
rs295454	1.00[EUR][1000 genomes]
rs295455	1.00[EUR][1000 genomes]
rs295456	1.00[EUR][1000 genomes]
rs295457	1.00[EUR][1000 genomes]
rs295459	1.00[EUR][1000 genomes]
rs448018	1.00[EUR][1000 genomes]
rs4858812	1.00[EUR][1000 genomes]
rs4858823	1.00[EUR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs55736379	1.00[AMR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6442066	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442068	1.00[EUR][1000 genomes]
rs6442069	1.00[EUR][1000 genomes]
rs648226	1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	1.00[EUR][1000 genomes]
rs6787210	1.00[EUR][1000 genomes]
rs6788978	1.00[EUR][1000 genomes]
rs6789730	1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs73831515	1.00[AMR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7644043	1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[EUR][1000 genomes]
rs807933	1.00[EUR][1000 genomes]
rs869508	1.00[YRI][hapmap]
rs900688	1.00[EUR][1000 genomes]
rs900689	1.00[EUR][1000 genomes]
rs900690	1.00[EUR][1000 genomes]
rs900692	1.00[EUR][1000 genomes]
rs900694	1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9828124	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47437800-47462800	Weak transcription	Fetal Brain Male	brain
2	chr3:47441000-47476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:47445000-47462800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:47445600-47462800	Strong transcription	Fetal Brain Female	brain
5	chr3:47446000-47462800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:47446200-47462800	Strong transcription	Dnd41	blood
7	chr3:47446400-47462800	Strong transcription	Colonic Mucosa	Colon
8	chr3:47446600-47462800	Strong transcription	Brain Germinal Matrix	brain
9	chr3:47447000-47462600	Strong transcription	Fetal Stomach	stomach
10	chr3:47447400-47462600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:47447800-47462600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:47447800-47462800	Weak transcription	Right Atrium	heart
13	chr3:47448200-47462600	Strong transcription	Fetal Thymus	thymus
14	chr3:47448400-47463200	Strong transcription	Gastric	stomach
15	chr3:47448400-47466000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:47448600-47462800	Strong transcription	Fetal Intestine Small	intestine
17	chr3:47448800-47462800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:47448800-47463200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:47449400-47462800	Strong transcription	Esophagus	oesophagus
20	chr3:47450400-47484800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:47451200-47462800	Weak transcription	HSMM	muscle
22	chr3:47451400-47466400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:47452600-47462600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:47454600-47466800	Weak transcription	Psoas Muscle	Psoas
25	chr3:47455600-47462600	Weak transcription	Fetal Kidney	kidney
26	chr3:47456000-47473000	Strong transcription	Thymus	Thymus
27	chr3:47456600-47462600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr3:47456800-47462600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:47456800-47462600	Strong transcription	Adipose Nuclei	Adipose
30	chr3:47457400-47462600	Strong transcription	Aorta	Aorta
31	chr3:47457400-47462800	Weak transcription	NHDF-Ad	bronchial
32	chr3:47457600-47462600	Weak transcription	Primary B cells from cord blood	blood
33	chr3:47458000-47462800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:47458000-47462800	Weak transcription	Stomach Mucosa	stomach
35	chr3:47458000-47462800	Weak transcription	Hela-S3	cervix
36	chr3:47458400-47462600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:47458600-47462800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:47459000-47464000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:47459200-47465200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:47459600-47470000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr3:47459800-47462800	Strong transcription	Fetal Intestine Large	intestine
42	chr3:47460200-47462800	Strong transcription	GM12878-XiMat	blood
43	chr3:47460200-47462800	Strong transcription	HepG2	liver
44	chr3:47460400-47470400	Strong transcription	NHEK	skin
45	chr3:47461000-47466600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:47461200-47462800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:47461200-47462800	Weak transcription	Fetal Lung	lung
48	chr3:47461200-47462800	Weak transcription	Small Intestine	intestine
49	chr3:47461200-47465400	Genic enhancers	Right Ventricle	heart
50	chr3:47461400-47462600	Weak transcription	Colon Smooth Muscle	Colon

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