Variant report

Variant	rs7308551
Chromosome Location	chr12:66665166-66665167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11833001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11834499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11835153	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11837166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102332	0.98[ASN][1000 genomes]
rs7132435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7133184	0.89[AFR][1000 genomes]
rs7135616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7296320	0.89[AFR][1000 genomes]
rs7308914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74100138	1.00[ASN][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv976747	chr12:66663300-66669568	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66661200-66666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:66661600-66665600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:66663200-66665800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:66663600-66665800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:66663600-66666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:66663600-66666800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:66663600-66667400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:66663800-66665800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:66663800-66666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:66663800-66667000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:66663800-66667400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:66664000-66666600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:66664000-66666800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:66664400-66673000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:66664600-66669800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:66664600-66672800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:66664600-66672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:66664600-66673000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:66664800-66669600	Weak transcription	Primary T cells from cord blood	blood

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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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