Variant report

Variant	rs7977024
Chromosome Location	chr12:4556651-4556652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17183487	0.83[AMR][1000 genomes]
rs4414304	1.00[MEX][hapmap]
rs7358783	0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964984	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4549600-4558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:4551000-4559000	Weak transcription	Right Atrium	heart
3	chr12:4551800-4559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:4552000-4558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4553400-4559000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:4553600-4559000	Weak transcription	Fetal Thymus	thymus
7	chr12:4553800-4558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4553800-4559000	Weak transcription	Dnd41	blood
9	chr12:4554400-4558200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:4555000-4561200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:4555200-4559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:4555400-4558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:4555400-4558600	Weak transcription	Psoas Muscle	Psoas
14	chr12:4555600-4558400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:4555600-4559000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:4555600-4559600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:4555800-4559600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:4556400-4560200	Enhancers	Fetal Brain Male	brain
19	chr12:4556600-4558800	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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