Variant report

Variant	rs13377924
Chromosome Location	chr12:49462102-49462103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
2	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
3	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
4	chr12:49461899..49463534-chr12:49657876..49660363,2	MCF-7	breast:
5	chr12:49460491..49475559-chr12:49480736..49489831,23	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000139549	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11168820	1.00[AMR][1000 genomes]
rs11168821	1.00[AMR][1000 genomes]
rs11168823	1.00[AMR][1000 genomes]
rs11168824	1.00[AMR][1000 genomes]
rs11168826	1.00[AMR][1000 genomes]
rs12303646	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310024	0.88[AFR][1000 genomes]
rs12315734	1.00[AMR][1000 genomes]
rs13377622	0.96[AFR][1000 genomes]
rs13377927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4018512	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	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
5	nsv819798	chr12:49460227-49463587	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49455200-49462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:49455200-49462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:49455400-49462600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:49455400-49462600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:49455400-49462600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:49455400-49462600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:49455400-49462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:49455400-49462600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:49455400-49462600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:49455400-49462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:49455400-49462800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:49455400-49462800	Weak transcription	Fetal Lung	lung
13	chr12:49455400-49462800	Weak transcription	Right Ventricle	heart
14	chr12:49455400-49462800	Weak transcription	HSMM	muscle
15	chr12:49455400-49463000	Weak transcription	Lung	lung
16	chr12:49455400-49463200	Weak transcription	Aorta	Aorta
17	chr12:49455600-49462400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:49455600-49462400	Weak transcription	GM12878-XiMat	blood
19	chr12:49455600-49462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:49455600-49462600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:49455600-49462600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:49455600-49462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:49455600-49462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:49455600-49462600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:49455600-49462600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:49455600-49462600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:49455600-49462600	Weak transcription	Fetal Thymus	thymus
28	chr12:49455600-49462600	Weak transcription	HMEC	breast
29	chr12:49455600-49462600	Weak transcription	HUVEC	blood vessel
30	chr12:49455600-49462600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:49455600-49462600	Weak transcription	NH-A	brain
32	chr12:49455600-49462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:49455600-49462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:49455600-49462800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:49455600-49462800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:49455600-49462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:49455600-49462800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:49455600-49462800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:49455600-49462800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:49455600-49462800	Weak transcription	Fetal Kidney	kidney
41	chr12:49455600-49462800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:49455600-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:49455600-49463000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:49455600-49463000	Weak transcription	HSMMtube	muscle
45	chr12:49455800-49462600	Weak transcription	Primary B cells from cord blood	blood
46	chr12:49455800-49462600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:49455800-49462600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:49455800-49462600	Weak transcription	Osteobl	bone
49	chr12:49457600-49462400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:49457800-49462600	Weak transcription	A549	lung

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