Variant report

Variant	rs772260
Chromosome Location	chr12:56178416-56178417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56178332..56180348-chr12:56187953..56189654,2	K562	blood:
2	chr12:56177105..56179829-chr12:56184444..56185951,2	K562	blood:
3	chr12:56174990..56177301-chr12:56178370..56180061,2	MCF-7	breast:
4	chr12:56176335..56178983-chr12:56210531..56213232,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123353	Chromatin interaction
ENSG00000205323	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1466512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1725358	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1871999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449476	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2462938	1.00[AMR][1000 genomes]
rs2694008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs2887997	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4759012	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4759202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55884432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310325	1.00[AMR][1000 genomes]
rs772250	1.00[AMR][1000 genomes]
rs772251	1.00[YRI][hapmap]
rs772252	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs772253	1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[AMR][1000 genomes]
rs772259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772261	1.00[AMR][1000 genomes]
rs7956337	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7963379	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812230	1.00[AFR][1000 genomes];1.00[AMR][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	chr12:56152600-56179600	Weak transcription	Pancreas	Pancrea
7	chr12:56152800-56209000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:56153000-56182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:56154400-56180600	Weak transcription	Right Ventricle	heart
10	chr12:56160000-56179600	Weak transcription	Aorta	Aorta
11	chr12:56160000-56197600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:56160200-56180000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:56160200-56184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:56162200-56183200	Strong transcription	Primary T cells from cord blood	blood
16	chr12:56163000-56198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:56163200-56199800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:56163200-56209400	Strong transcription	Fetal Thymus	thymus
19	chr12:56163400-56184600	Strong transcription	Placenta	Placenta
20	chr12:56163400-56198000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:56164000-56197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:56164800-56185000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:56166400-56182000	Weak transcription	Small Intestine	intestine
24	chr12:56166400-56182600	Weak transcription	Fetal Heart	heart
25	chr12:56166400-56194600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:56169200-56195400	Strong transcription	Primary B cells from cord blood	blood
27	chr12:56169200-56197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:56169400-56198400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:56169400-56198600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:56169400-56198600	Strong transcription	Dnd41	blood
31	chr12:56169600-56185000	Strong transcription	Adipose Nuclei	Adipose
32	chr12:56169600-56185000	Strong transcription	HSMM	muscle
33	chr12:56169600-56185200	Strong transcription	K562	blood
34	chr12:56169600-56198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:56169600-56198200	Strong transcription	Liver	Liver
36	chr12:56169800-56185000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr12:56169800-56197600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:56169800-56203400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:56169800-56204200	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:56170000-56185200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:56170000-56190800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:56170000-56197400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:56170000-56197800	Strong transcription	Fetal Intestine Large	intestine
44	chr12:56170000-56198800	Strong transcription	HUVEC	blood vessel
45	chr12:56170200-56197400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:56170200-56198800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:56170200-56204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:56170600-56184600	Strong transcription	NH-A	brain
49	chr12:56170800-56183400	Strong transcription	Fetal Brain Female	brain
50	chr12:56171000-56190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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