Variant report

Variant	rs12044821
Chromosome Location	chr1:221898307-221898308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221896601..221898804-chr1:221901497..221903460,2	K562	blood:
2	chr1:221891993..221895094-chr1:221895705..221898533,3	K562	blood:
3	chr1:221895037..221902178-chr1:221912556..221917116,9	K562	blood:
4	chr1:221897172..221898775-chr1:222217988..222220740,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12027098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030765	1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12030868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12034061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036163	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12041033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116804	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17010269	1.00[EUR][1000 genomes]
rs17010405	1.00[EUR][1000 genomes]
rs4275462	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6670514	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
2	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
3	chr1:221887200-221899000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:221887800-221898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:221888000-221899000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:221888000-221903000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:221888800-221898600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:221889400-221899600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:221889800-221899000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:221890400-221898400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:221890800-221906400	Weak transcription	Right Ventricle	heart
12	chr1:221890800-221910200	Weak transcription	Lung	lung
13	chr1:221891800-221911000	Weak transcription	Gastric	stomach
14	chr1:221891800-221913000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:221892400-221901400	Weak transcription	Small Intestine	intestine
16	chr1:221892800-221899000	Weak transcription	Thymus	Thymus
17	chr1:221893000-221913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:221893200-221899400	Genic enhancers	Liver	Liver
19	chr1:221894600-221899800	Enhancers	Brain Angular Gyrus	brain
20	chr1:221894800-221898600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr1:221894800-221898800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:221895000-221898400	Enhancers	Psoas Muscle	Psoas
23	chr1:221895200-221900800	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:221895400-221901400	Enhancers	Brain Anterior Caudate	brain
25	chr1:221895400-221901800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:221896000-221899400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:221896000-221899800	Enhancers	NH-A	brain
28	chr1:221896000-221900200	Enhancers	Hela-S3	cervix
29	chr1:221896200-221898800	Weak transcription	Right Atrium	heart
30	chr1:221896600-221903200	Weak transcription	Fetal Stomach	stomach
31	chr1:221897000-221898400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:221897000-221899200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:221897000-221903600	Weak transcription	Left Ventricle	heart
34	chr1:221897200-221899200	Enhancers	Osteobl	bone
35	chr1:221897200-221907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:221897200-221914200	Weak transcription	Aorta	Aorta
37	chr1:221897400-221898400	Enhancers	Colon Smooth Muscle	Colon
38	chr1:221897400-221898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:221897400-221898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:221897400-221908800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:221897400-221913400	Weak transcription	HepG2	liver
42	chr1:221897600-221898600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:221897600-221898800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:221897600-221898800	ZNF genes & repeats	GM12878-XiMat	blood
45	chr1:221897600-221899000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:221897600-221899000	Weak transcription	K562	blood
47	chr1:221897600-221899800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:221897600-221900800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:221897600-221902600	Weak transcription	Fetal Lung	lung
50	chr1:221897600-221903600	Weak transcription	Fetal Muscle Trunk	muscle

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