Variant report

Variant	rs67312569
Chromosome Location	chr2:179961257-179961258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10084229	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10084475	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10173710	0.83[AFR][1000 genomes]
rs10930855	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12615736	0.95[AFR][1000 genomes]
rs12693175	0.82[ASN][1000 genomes]
rs13396334	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13403231	0.86[EUR][1000 genomes]
rs13420572	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs173110	0.81[ASN][1000 genomes]
rs17363260	0.82[ASN][1000 genomes]
rs17363267	0.82[ASN][1000 genomes]
rs17454311	0.85[AFR][1000 genomes]
rs1900338	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2289993	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289994	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34728717	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs55750558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109193	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9288023	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1003301	chr2:179934190-179963263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179959800-179963000	Enhancers	Primary B cells from cord blood	blood
2	chr2:179960000-179962000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr2:179960000-179962800	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:179960200-179961400	Enhancers	Thymus	Thymus
5	chr2:179960200-179961800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:179960400-179961600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:179960400-179961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:179960400-179961600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:179960400-179961800	Enhancers	Primary T cells from cord blood	blood
10	chr2:179960400-179961800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:179960400-179962000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:179960600-179961400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:179960600-179961600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:179960600-179961600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:179960600-179961600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:179960600-179961800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:179960600-179962000	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:179960600-179962000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:179960600-179962000	Enhancers	Fetal Thymus	thymus
20	chr2:179960800-179961600	Enhancers	Spleen	Spleen
21	chr2:179961000-179961400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:179961000-179966400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:179961000-179970800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:179961200-179963800	Enhancers	GM12878-XiMat	blood
25	chr2:179961200-179971200	Weak transcription	Dnd41	blood

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