Variant report

Variant	rs7568679
Chromosome Location	chr2:47069443-47069444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47068428..47070813-chr2:47109229..47111715,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12463795	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs12614366	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1466021	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1466022	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466023	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1466024	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1466025	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17035762	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17035766	0.96[CEU][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2121322	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2166477	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36114719	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952853	0.83[EUR][1000 genomes]
rs4952854	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4953429	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57828570	0.94[ASN][1000 genomes]
rs6544930	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6544931	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7597025	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs935373	0.92[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47060200-47070400	Weak transcription	NHDF-Ad	bronchial
2	chr2:47063400-47072200	Weak transcription	Placenta	Placenta
3	chr2:47063800-47072000	Weak transcription	Lung	lung
4	chr2:47063800-47072200	Weak transcription	Left Ventricle	heart
5	chr2:47063800-47072200	Weak transcription	Pancreas	Pancrea
6	chr2:47063800-47072800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47063800-47073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:47064000-47070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:47064000-47072800	Weak transcription	Right Atrium	heart
10	chr2:47064000-47072800	Weak transcription	Spleen	Spleen
11	chr2:47064000-47073200	Weak transcription	NHLF	lung
12	chr2:47064200-47070200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:47067400-47073400	Weak transcription	Osteobl	bone
14	chr2:47067800-47070400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:47068800-47069600	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:47068800-47069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:47069200-47069600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:47069200-47072800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:47069400-47069600	Enhancers	Right Ventricle	heart
20	chr2:47069400-47072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:47069400-47073000	Weak transcription	Adipose Nuclei	Adipose
22	chr2:47069400-47073400	Weak transcription	Stomach Mucosa	stomach
23	chr2:47069400-47073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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