Variant report

Variant	rs12135530
Chromosome Location	chr1:77746787-77746788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:77746712-77746855	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77684670..77686781-chr1:77746398..77749229,3	MCF-7	breast:

Variant related genes	Relation type
AK5	TF binding region
ENSG00000142892	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11162307	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119637	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126117	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130590	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132703	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133976	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17100458	1.00[ASN][1000 genomes]
rs4949652	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4949786	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4949788	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4949801	1.00[ASN][1000 genomes]
rs72679521	1.00[ASN][1000 genomes]
rs72683952	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7546963	1.00[ASN][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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77737200-77747400	Weak transcription	Aorta	Aorta
2	chr1:77740200-77746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:77745200-77747200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:77745200-77747200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:77745200-77747200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:77745200-77747800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr1:77745400-77747000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:77745400-77747400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77745600-77747000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr1:77745600-77747200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:77745600-77747800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr1:77745800-77747200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr1:77745800-77747400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr1:77746000-77747200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:77746000-77747200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:77746000-77747200	Enhancers	Brain Hippocampus Middle	brain
17	chr1:77746200-77747000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:77746200-77747000	Enhancers	Brain Angular Gyrus	brain
19	chr1:77746200-77747200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:77746200-77747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:77746400-77746800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:77746400-77747200	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr1:77746400-77747200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:77746400-77747400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:77746600-77746800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:77746600-77746800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:77746600-77746800	Enhancers	NHDF-Ad	bronchial
28	chr1:77746600-77747000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
29	chr1:77746600-77747000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:77746600-77747000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:77746600-77747000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:77746600-77747200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:77746600-77747200	Enhancers	Brain Anterior Caudate	brain
34	chr1:77746600-77749000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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