Variant report

Variant	rs56699787
Chromosome Location	chr12:56180046-56180047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56136785..56139418-chr12:56179025..56181051,2	K562	blood:
2	chr12:56179355..56182003-chr12:56210960..56213577,2	MCF-7	breast:
3	chr12:56178332..56180348-chr12:56187953..56189654,2	K562	blood:
4	chr12:56174990..56177301-chr12:56178370..56180061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205323	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000123353	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12308277	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320132	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1463591	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17118032	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58599597	0.95[ASN][1000 genomes]
rs59980563	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs68101940	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7310164	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119263	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][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	chr12:56153000-56182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56154400-56180600	Weak transcription	Right Ventricle	heart
9	chr12:56160000-56197600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:56160200-56184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:56162200-56183200	Strong transcription	Primary T cells from cord blood	blood
13	chr12:56163000-56198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:56163200-56199800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:56163200-56209400	Strong transcription	Fetal Thymus	thymus
16	chr12:56163400-56184600	Strong transcription	Placenta	Placenta
17	chr12:56163400-56198000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:56164000-56197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:56164800-56185000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:56166400-56182000	Weak transcription	Small Intestine	intestine
21	chr12:56166400-56182600	Weak transcription	Fetal Heart	heart
22	chr12:56166400-56194600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:56169200-56195400	Strong transcription	Primary B cells from cord blood	blood
24	chr12:56169200-56197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:56169400-56198400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:56169400-56198600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:56169400-56198600	Strong transcription	Dnd41	blood
28	chr12:56169600-56185000	Strong transcription	Adipose Nuclei	Adipose
29	chr12:56169600-56185000	Strong transcription	HSMM	muscle
30	chr12:56169600-56185200	Strong transcription	K562	blood
31	chr12:56169600-56198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:56169600-56198200	Strong transcription	Liver	Liver
33	chr12:56169800-56185000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr12:56169800-56197600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:56169800-56203400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:56169800-56204200	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:56170000-56185200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:56170000-56190800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:56170000-56197400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:56170000-56197800	Strong transcription	Fetal Intestine Large	intestine
41	chr12:56170000-56198800	Strong transcription	HUVEC	blood vessel
42	chr12:56170200-56197400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:56170200-56198800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:56170200-56204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:56170600-56184600	Strong transcription	NH-A	brain
46	chr12:56170800-56183400	Strong transcription	Fetal Brain Female	brain
47	chr12:56171000-56190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:56171200-56185000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:56171400-56183400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:56171400-56197600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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