Variant report

Variant	rs12304507
Chromosome Location	chr12:56184143-56184144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56184033..56187012-chr12:56190030..56192705,3	K562	blood:
2	chr12:56135743..56138287-chr12:56182003..56184938,3	MCF-7	breast:
3	chr12:56164086..56166106-chr12:56181823..56184194,3	K562	blood:
4	chr12:56182450..56184591-chr12:56195930..56197774,2	K562	blood:
5	chr12:56182612..56186461-chr12:56189359..56195346,5	K562	blood:
6	chr12:56182360..56184394-chr12:56186698..56189441,2	MCF-7	breast:
7	chr12:56139597..56141342-chr12:56182890..56184805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135414	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10082864	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10083186	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10161417	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11171667	0.82[EUR][1000 genomes]
rs11171670	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11171671	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11171677	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11171681	0.94[ASN][1000 genomes]
rs11829536	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11834264	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12304296	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12320756	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17117974	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2291267	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3759101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7299222	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7971247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972345	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868051	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9739244	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 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	chr12:56142000-56191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56144600-56208800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:56144800-56198600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr12:56145200-56199400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:56149400-56209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:56152800-56209000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:56160000-56197600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:56160200-56184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:56163000-56198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:56163200-56199800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:56163200-56209400	Strong transcription	Fetal Thymus	thymus
13	chr12:56163400-56184600	Strong transcription	Placenta	Placenta
14	chr12:56163400-56198000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:56164000-56197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:56164800-56185000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:56166400-56194600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:56169200-56195400	Strong transcription	Primary B cells from cord blood	blood
19	chr12:56169200-56197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:56169400-56198400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:56169400-56198600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:56169400-56198600	Strong transcription	Dnd41	blood
23	chr12:56169600-56185000	Strong transcription	Adipose Nuclei	Adipose
24	chr12:56169600-56185000	Strong transcription	HSMM	muscle
25	chr12:56169600-56185200	Strong transcription	K562	blood
26	chr12:56169600-56198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:56169600-56198200	Strong transcription	Liver	Liver
28	chr12:56169800-56185000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:56169800-56197600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:56169800-56203400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:56169800-56204200	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:56170000-56185200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:56170000-56190800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:56170000-56197400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr12:56170000-56197800	Strong transcription	Fetal Intestine Large	intestine
36	chr12:56170000-56198800	Strong transcription	HUVEC	blood vessel
37	chr12:56170200-56197400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:56170200-56198800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:56170200-56204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:56170600-56184600	Strong transcription	NH-A	brain
41	chr12:56171000-56190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:56171200-56185000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:56171400-56197600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:56171400-56197600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr12:56171400-56198600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:56171600-56190800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:56171600-56197600	Strong transcription	Osteobl	bone
48	chr12:56172200-56184600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:56172400-56199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:56172800-56184400	Strong transcription	Hela-S3	cervix

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