Variant report

Variant	rs57658152
Chromosome Location	chr12:49070821-49070822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49069459..49071260-chr12:49074212..49076184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11168603	1.00[EUR][1000 genomes]
rs11168610	1.00[EUR][1000 genomes]
rs11168626	1.00[EUR][1000 genomes]
rs11503892	1.00[EUR][1000 genomes]
rs11534	1.00[EUR][1000 genomes]
rs11551273	1.00[EUR][1000 genomes]
rs11830117	1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[EUR][1000 genomes]
rs11831374	1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837277	0.81[AFR][1000 genomes]
rs11837337	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11837993	1.00[EUR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs12300165	1.00[EUR][1000 genomes]
rs12304826	1.00[EUR][1000 genomes]
rs12305150	1.00[EUR][1000 genomes]
rs12307016	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs2898086	0.89[AFR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55956587	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs56934678	0.81[AFR][1000 genomes]
rs57337154	1.00[EUR][1000 genomes]
rs57454425	1.00[EUR][1000 genomes]
rs58539734	0.81[AFR][1000 genomes]
rs59304927	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59708884	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60351852	1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74088105	0.89[AFR][1000 genomes]
rs74088110	0.89[AFR][1000 genomes]
rs74088131	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74088137	1.00[EUR][1000 genomes]
rs74088163	1.00[EUR][1000 genomes]
rs74088167	1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74089364	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74089369	0.81[AFR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv438209	chr12:49058814-49071245	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49036800-49072000	Strong transcription	Liver	Liver
2	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
3	chr12:49038800-49071800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49039000-49072200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49039400-49071800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:49039800-49071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:49039800-49071000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:49040000-49072600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:49040400-49072800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:49041000-49071800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:49041800-49071000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:49041800-49072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
14	chr12:49042400-49072800	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:49044200-49071000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:49044200-49072400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:49044200-49072800	Strong transcription	Fetal Thymus	thymus
18	chr12:49044400-49071000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:49044400-49071400	Strong transcription	Thymus	Thymus
20	chr12:49044400-49072400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:49044600-49072400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:49044800-49071200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:49045000-49071600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:49045400-49072600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:49045600-49071800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:49045600-49072400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:49045600-49073400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:49046200-49072600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:49046400-49071000	Strong transcription	HUVEC	blood vessel
30	chr12:49057200-49072400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:49057800-49071400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:49057800-49072800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:49058400-49074000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr12:49058600-49071000	Strong transcription	Adipose Nuclei	Adipose
35	chr12:49058600-49071000	Strong transcription	Hela-S3	cervix
36	chr12:49061600-49071800	Weak transcription	Small Intestine	intestine
37	chr12:49062600-49071000	Weak transcription	Fetal Brain Male	brain
38	chr12:49063400-49071000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:49065600-49072400	Weak transcription	Stomach Mucosa	stomach
40	chr12:49065800-49071000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:49065800-49071000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:49065800-49071000	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:49065800-49071000	Weak transcription	Fetal Kidney	kidney
44	chr12:49065800-49071200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:49065800-49071600	Strong transcription	Osteobl	bone
46	chr12:49065800-49071800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:49065800-49072000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:49065800-49072400	Weak transcription	HSMMtube	muscle
49	chr12:49065800-49072400	Weak transcription	NHLF	lung
50	chr12:49065800-49072600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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