Variant report

Variant	rs56149019
Chromosome Location	chr12:49591890-49591891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49581166..49587086-chr12:49589804..49595729,8	K562	blood:
2	chr12:49591818..49595600-chr12:49658262..49660804,4	K562	blood:
3	chr12:49554137..49556960-chr12:49591128..49592792,2	K562	blood:
4	chr12:49522795..49526173-chr12:49587033..49593162,7	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1039225	0.81[ASN][1000 genomes]
rs10747563	0.99[ASN][1000 genomes]
rs10875934	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168903	0.81[ASN][1000 genomes]
rs11168911	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168912	0.95[ASN][1000 genomes]
rs11168917	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168919	0.99[ASN][1000 genomes]
rs12309994	0.99[ASN][1000 genomes]
rs7306084	0.99[ASN][1000 genomes]
rs7959497	0.95[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49583000-49592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:49583200-49595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:49583400-49595800	Weak transcription	Ovary	ovary
4	chr12:49583600-49592200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:49583600-49592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:49583600-49592400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:49583600-49594600	Weak transcription	Fetal Kidney	kidney
8	chr12:49583600-49595800	Weak transcription	Aorta	Aorta
9	chr12:49583600-49595800	Weak transcription	Fetal Thymus	thymus
10	chr12:49583800-49592400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:49583800-49592400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:49584000-49592200	Weak transcription	NHLF	lung
13	chr12:49584200-49594200	Weak transcription	A549	lung
14	chr12:49584400-49592000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:49584400-49592400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:49584600-49592400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:49584600-49592400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:49585200-49592200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:49585200-49592200	Weak transcription	Fetal Brain Male	brain
20	chr12:49589000-49592000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:49590000-49592200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:49590600-49592000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:49591000-49592200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:49591000-49592200	Enhancers	Brain Germinal Matrix	brain
25	chr12:49591000-49596200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:49591200-49592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:49591200-49592000	Weak transcription	Fetal Brain Female	brain
28	chr12:49591200-49592200	Enhancers	Brain Anterior Caudate	brain
29	chr12:49591200-49592200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:49591200-49592400	Enhancers	Brain Hippocampus Middle	brain
31	chr12:49591200-49592400	Enhancers	HUVEC	blood vessel
32	chr12:49591200-49592600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:49591200-49593200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:49591200-49593400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:49591400-49592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:49591400-49592400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:49591400-49592400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:49591400-49592600	Enhancers	Brain Substantia Nigra	brain
39	chr12:49591600-49592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:49591600-49592000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:49591600-49592000	Weak transcription	K562	blood
42	chr12:49591600-49592600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:49591600-49594000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:49591600-49594200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:49591600-49594400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:49591600-49594600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:49591600-49594600	Weak transcription	Adipose Nuclei	Adipose
48	chr12:49591600-49594600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:49591600-49594800	Weak transcription	Primary B cells from cord blood	blood
50	chr12:49591600-49595800	Weak transcription	Spleen	Spleen

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