Variant report

Variant	rs7971455
Chromosome Location	chr12:49616065-49616066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49608287..49610880-chr12:49615814..49620950,5	K562	blood:
2	chr12:49523551..49525631-chr12:49614182..49616413,2	MCF-7	breast:
3	chr12:49608287..49611416-chr12:49615384..49618103,4	K562	blood:

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000258017	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10783310	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875937	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168948	0.81[ASN][1000 genomes]
rs11834543	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11834620	0.87[ASN][1000 genomes]
rs17123623	0.84[ASN][1000 genomes]
rs2335453	0.81[ASN][1000 genomes]
rs7133057	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49608000-49616400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:49608800-49616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:49608800-49617800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:49609200-49616600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:49609200-49616800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49609200-49616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:49609400-49616200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:49609400-49616200	Weak transcription	NHDF-Ad	bronchial
9	chr12:49609400-49616600	Weak transcription	Fetal Stomach	stomach
10	chr12:49610000-49616200	Weak transcription	NHLF	lung
11	chr12:49610200-49616200	Weak transcription	HSMMtube	muscle
12	chr12:49610200-49616400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:49610200-49616400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:49610200-49616800	Weak transcription	Fetal Thymus	thymus
15	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:49610400-49616400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:49611000-49616400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:49611000-49616400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:49611000-49616600	Weak transcription	Fetal Brain Male	brain
20	chr12:49611200-49616400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:49611200-49616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:49612200-49620200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:49613800-49616800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:49614200-49618400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:49614400-49616600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:49614600-49616400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:49614800-49617200	Weak transcription	Spleen	Spleen
28	chr12:49614800-49618000	Enhancers	Primary B cells from cord blood	blood
29	chr12:49615000-49616200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:49615000-49616400	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:49615200-49618600	Enhancers	Fetal Muscle Leg	muscle
32	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
33	chr12:49615600-49616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:49615800-49617800	Enhancers	HSMM	muscle
35	chr12:49616000-49616400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:49616000-49616600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:49616000-49616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:49616000-49616800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:49616000-49616800	Enhancers	Fetal Brain Female	brain
40	chr12:49616000-49617200	Enhancers	Colon Smooth Muscle	Colon
41	chr12:49616000-49618400	Enhancers	Fetal Muscle Trunk	muscle

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