Variant report

Variant	rs6541390
Chromosome Location	chr1:94182189-94182190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94162627..94164295-chr1:94179943..94182786,2	K562	blood:
2	chr1:94172245..94175304-chr1:94180570..94183782,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2221923	1.00[AFR][1000 genomes]
rs6541391	1.00[AFR][1000 genomes]
rs6541392	1.00[AFR][1000 genomes]
rs871855	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94172400-94186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:94174800-94182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94175000-94182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94175000-94187600	Weak transcription	Gastric	stomach
5	chr1:94176800-94186600	Weak transcription	Right Ventricle	heart
6	chr1:94177000-94182200	Weak transcription	Left Ventricle	heart
7	chr1:94177000-94186600	Weak transcription	Right Atrium	heart
8	chr1:94177200-94182600	Enhancers	Fetal Thymus	thymus
9	chr1:94179200-94187600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:94179200-94188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:94179800-94182200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:94180000-94182200	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:94180600-94182200	Enhancers	Fetal Brain Male	brain
14	chr1:94180600-94182600	Enhancers	Thymus	Thymus
15	chr1:94180800-94182600	Bivalent Enhancer	Fetal Heart	heart
16	chr1:94181000-94182200	Enhancers	Aorta	Aorta
17	chr1:94181000-94182400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:94181000-94182400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:94181000-94182600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:94181000-94183000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:94181000-94183000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:94181200-94182200	Enhancers	Fetal Brain Female	brain
23	chr1:94181200-94183000	Enhancers	Hela-S3	cervix
24	chr1:94181400-94182400	Enhancers	Psoas Muscle	Psoas
25	chr1:94181400-94182800	Enhancers	GM12878-XiMat	blood
26	chr1:94181600-94182200	Enhancers	Colon Smooth Muscle	Colon
27	chr1:94181600-94182200	Weak transcription	HMEC	breast
28	chr1:94181600-94182400	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:94181600-94182800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:94181800-94182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:94182000-94182400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:94182000-94182800	ZNF genes & repeats	HSMM	muscle

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