Variant report

Variant	rs12046197
Chromosome Location	chr1:77925439-77925440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77921275..77923529-chr1:77924808..77927657,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12045755	0.82[EUR][1000 genomes]
rs12048207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567785	0.87[AMR][1000 genomes]
rs12569104	0.82[EUR][1000 genomes]
rs28776274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28878211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767035	1.00[MKK][hapmap]
rs59556669	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77907800-77927000	Weak transcription	HSMMtube	muscle
2	chr1:77911000-77925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:77911200-77934000	Weak transcription	HSMM	muscle
4	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:77913200-77930000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:77913400-77929400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:77915200-77933600	Weak transcription	NHLF	lung
11	chr1:77921800-77930200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:77924000-77925600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:77924400-77925800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:77924400-77926400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:77924600-77925600	Enhancers	Fetal Intestine Small	intestine
16	chr1:77924600-77926400	Enhancers	Fetal Intestine Large	intestine
17	chr1:77924600-77926600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:77925000-77925800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:77925000-77925800	Enhancers	NHDF-Ad	bronchial
20	chr1:77925000-77926000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:77925200-77926600	Enhancers	HUVEC	blood vessel

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