Variant report

Variant	rs4239137
Chromosome Location	chr17:16811871-16811872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11652055	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11652373	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12450851	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961570	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4624223	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4792785	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4792788	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4792791	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs59852590	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66663429	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67885003	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7212570	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7212661	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7213502	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7213658	0.87[ASN][1000 genomes]
rs7214114	0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs8071331	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8071448	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2753951	chr17:16660721-16848750	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2755100	chr17:16660721-16848750	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3367254	chr17:16785269-16828294	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3338978	chr17:16785520-16828294	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1055688	chr17:16800788-16868860	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv960193	chr17:16811200-16831798	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16804400-16814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16807400-16813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:16807600-16812600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16808200-16812400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:16809200-16814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:16810000-16814800	Enhancers	Primary T cells from cord blood	blood
7	chr17:16810200-16816400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr17:16810400-16812600	Weak transcription	HSMMtube	muscle
9	chr17:16810400-16815000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:16810600-16812000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:16810600-16816200	Enhancers	Fetal Thymus	thymus
12	chr17:16810800-16812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:16810800-16812800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:16811000-16812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:16811800-16816200	Enhancers	Fetal Muscle Leg	muscle
16	chr17:16811800-16816600	Enhancers	Primary T helper cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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