Variant report

Variant	rs2193029
Chromosome Location	chr12:11778215-11778216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12303794	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2193031	0.91[ASN][1000 genomes]
rs2216158	0.91[ASN][1000 genomes]
rs4763258	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488433	0.90[ASN][1000 genomes]
rs6488438	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6488439	0.91[ASN][1000 genomes]
rs7133052	0.83[ASN][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	nsv898803	chr12:11757867-11794636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv470267	chr12:11767406-11787989	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11776600-11786400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:11776800-11781400	Weak transcription	HepG2	liver
3	chr12:11776800-11782200	Weak transcription	Thymus	Thymus
4	chr12:11776800-11782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:11777000-11782200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:11777000-11788200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:11777200-11782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:11777200-11782600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:11777200-11782600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:11777200-11782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:11778200-11780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:11778200-11780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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