Variant report

Variant	rs74146225
Chromosome Location	chr1:224839814-224839815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224826339..224826875-chr1:224839270..224840160,2	K562	blood:
2	chr1:224838583..224840769-chr1:224842090..224844375,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55838462	0.84[AFR][1000 genomes]
rs55905698	0.84[AFR][1000 genomes]
rs56166009	0.86[AFR][1000 genomes]
rs57436829	0.84[AFR][1000 genomes]
rs57468714	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58923203	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59459595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59656396	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146246	0.84[AFR][1000 genomes]
rs74146249	0.84[AFR][1000 genomes]
rs74146250	0.84[AFR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:224832800-224869000	Weak transcription	Dnd41	blood
5	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:224833400-224840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:224836000-224840200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:224837600-224840000	Weak transcription	Spleen	Spleen
9	chr1:224837600-224840200	Enhancers	Fetal Brain Male	brain
10	chr1:224838400-224853200	Weak transcription	Psoas Muscle	Psoas
11	chr1:224838800-224840200	Weak transcription	Fetal Lung	lung
12	chr1:224839000-224840800	Enhancers	HMEC	breast
13	chr1:224839000-224840800	Enhancers	NHDF-Ad	bronchial
14	chr1:224839200-224840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224839400-224840800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:224839400-224840800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:224839600-224840200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:224839600-224840200	Enhancers	HUVEC	blood vessel
19	chr1:224839600-224840800	Enhancers	NHEK	skin
20	chr1:224839800-224840200	Enhancers	Osteobl	bone
21	chr1:224839800-224840400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:224839800-224840400	Enhancers	Lung	lung
23	chr1:224839800-224840600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:224839800-224840600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:224839800-224840600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:224839800-224840600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:224839800-224840600	Enhancers	Ovary	ovary
28	chr1:224839800-224840600	Flanking Active TSS	NH-A	brain
29	chr1:224839800-224840600	Genic enhancers	NHLF	lung
30	chr1:224839800-224840800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:224839800-224840800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:224839800-224840800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:224839800-224840800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:224839800-224840800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:224839800-224840800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:224839800-224840800	Enhancers	HSMM	muscle
37	chr1:224839800-224841000	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links