Variant report

Variant	rs61648968
Chromosome Location	chr12:122058277-122058278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122057261..122059571-chr12:122063040..122065967,3	MCF-7	breast:
2	chr12:122057244..122059003-chr12:122062084..122064323,2	K562	blood:
3	chr12:122016347..122018426-chr12:122056776..122059452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11548651	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3741596	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3741597	0.82[ASN][1000 genomes]
rs3825174	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55697220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55943805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56703954	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57017551	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57651627	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57878155	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58395076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58690118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59041250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59599225	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59776246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59777768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59837065	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60627502	0.88[ASN][1000 genomes]
rs61103451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61698005	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7961634	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
2	chr12:122048800-122062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122048800-122062800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:122049400-122062800	Weak transcription	Thymus	Thymus
5	chr12:122049800-122062600	Weak transcription	Hela-S3	cervix
6	chr12:122050000-122063800	Weak transcription	Fetal Stomach	stomach
7	chr12:122050200-122062800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:122053000-122062800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:122054200-122062200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:122056000-122058400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:122056400-122058600	Enhancers	Primary B cells from cord blood	blood
12	chr12:122057000-122058800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:122057000-122062600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122057200-122062600	Weak transcription	GM12878-XiMat	blood
15	chr12:122057400-122058800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122057600-122058400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122057600-122058400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:122057600-122058400	Enhancers	NH-A	brain
19	chr12:122057600-122058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:122057600-122058600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:122057600-122058600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:122057600-122058600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:122057600-122058600	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:122057600-122058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:122057600-122058600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:122057600-122058600	Enhancers	HUVEC	blood vessel
27	chr12:122057600-122058800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:122057600-122058800	Enhancers	K562	blood
29	chr12:122057600-122059000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:122057800-122058400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:122057800-122058600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:122057800-122058600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:122057800-122058600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:122057800-122058600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:122057800-122058600	Flanking Active TSS	HepG2	liver
36	chr12:122057800-122058800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:122057800-122058800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:122057800-122058800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:122057800-122058800	Enhancers	Placenta	Placenta
40	chr12:122057800-122058800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:122057800-122062600	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:122058000-122058400	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:122058000-122058600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:122058000-122058800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:122058000-122062600	Weak transcription	Osteobl	bone
46	chr12:122058000-122062800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:122058000-122062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:122058000-122062800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:122058000-122062800	Weak transcription	A549	lung
50	chr12:122058000-122062800	Weak transcription	HSMM	muscle

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