Variant report

Variant	rs4141579
Chromosome Location	chr12:10818565-10818566
allele	C/G
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:5)

rs_ID	r²[population]
rs10845198	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12231956	0.88[ASN][1000 genomes]
rs7297091	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967162	0.85[EUR][1000 genomes]
rs7968284	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1050613	chr12:10809805-10844399	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10809800-10818600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:10810000-10818600	Weak transcription	HMEC	breast
3	chr12:10810600-10821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:10811800-10819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:10812000-10819800	Weak transcription	HUVEC	blood vessel
6	chr12:10815000-10820400	Weak transcription	Stomach Mucosa	stomach
7	chr12:10816800-10818800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:10817800-10820000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:10818000-10820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:10818400-10819200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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