Variant report

Variant	rs73273948
Chromosome Location	chr12:42843764-42843765
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	POLR2A	chr12:42842683-42845517	K562	blood:	n/a	n/a
2	POLR2A	chr12:42843068-42845640	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:42843697-42844629	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:42843330-42844952	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:42840089..42844176-chr12:42845419..42849222,3	K562	blood:
2	chr12:42842099..42844184-chr12:42852109..42854284,2	K562	blood:
3	chr12:42818942..42821553-chr12:42842051..42843858,2	K562	blood:

Variant related genes	Relation type
ENSG00000207142	TF binding region
ENSG00000207142	Chromatin interaction
ENSG00000257225	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59321446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61188358	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7303532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272039	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281664	0.83[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285647	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285664	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285666	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285678	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078990	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42820000-42858200	Weak transcription	Gastric	stomach
5	chr12:42820200-42853000	Weak transcription	Fetal Heart	heart
6	chr12:42821000-42844000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain
8	chr12:42826600-42858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
10	chr12:42832800-42845000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
13	chr12:42836600-42853000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:42836800-42844000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:42836800-42853000	Weak transcription	Right Ventricle	heart
16	chr12:42836800-42858800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:42837000-42844000	Weak transcription	NHLF	lung
18	chr12:42837000-42845400	Weak transcription	Hela-S3	cervix
19	chr12:42837000-42853200	Weak transcription	NHEK	skin
20	chr12:42837000-42853800	Weak transcription	Lung	lung
21	chr12:42837000-42858000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:42837000-42858000	Weak transcription	Aorta	Aorta
23	chr12:42837000-42858200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
25	chr12:42837200-42844000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:42837200-42844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:42837400-42844000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:42837400-42848000	Weak transcription	HepG2	liver
30	chr12:42838000-42844400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:42838400-42844000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:42838400-42858000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:42838600-42845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:42838600-42850000	Weak transcription	HSMMtube	muscle
35	chr12:42838600-42853200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:42838800-42844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:42839000-42844200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:42839000-42844400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:42839600-42844800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:42839600-42846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:42839800-42853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:42840000-42856400	Weak transcription	Fetal Intestine Small	intestine
43	chr12:42840200-42844200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:42840200-42844200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:42840400-42850200	Weak transcription	Left Ventricle	heart
46	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
47	chr12:42840600-42843800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:42840600-42844800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:42840600-42845200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:42840600-42852800	Weak transcription	Adipose Nuclei	Adipose

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