Variant report

Variant	rs12075997
Chromosome Location	chr1:170136787-170136788
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	chr1:170129471..170132945-chr1:170134793..170138535,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10494482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919308	1.00[YRI][hapmap]
rs12089836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1330377	1.00[CHB][hapmap]
rs1541160	1.00[CHB][hapmap]
rs16863058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2065950	1.00[CHB][hapmap]
rs2474708	1.00[CHB][hapmap]
rs41272487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs476269	1.00[CHB][hapmap]
rs522444	1.00[CHB][hapmap]
rs527261	1.00[CHB][hapmap]
rs541896	1.00[CHB][hapmap]
rs546894	1.00[CHB][hapmap]
rs571398	1.00[CHB][hapmap]
rs574053	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs614044	1.00[CHB][hapmap]
rs628436	1.00[CHB][hapmap]
rs6668310	1.00[CHB][hapmap]
rs6676005	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6677004	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6683076	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6694304	1.00[CHB][hapmap]
rs73023530	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7354853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7354854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355043	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539241	1.00[CHB][hapmap]
rs973015	1.00[CHB][hapmap]

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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv3454	chr1:170134880-170149447	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170132200-170136800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:170132400-170136800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:170132400-170140200	Weak transcription	Right Ventricle	heart
4	chr1:170132600-170136800	Weak transcription	Fetal Kidney	kidney
5	chr1:170132600-170136800	Weak transcription	HSMM	muscle
6	chr1:170132600-170137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:170132600-170137200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:170132600-170137200	Weak transcription	Osteobl	bone
9	chr1:170132600-170137600	Weak transcription	HSMMtube	muscle
10	chr1:170132800-170140600	Weak transcription	Fetal Heart	heart
11	chr1:170133200-170136800	Weak transcription	NHDF-Ad	bronchial
12	chr1:170136000-170136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:170136600-170136800	Enhancers	Left Ventricle	heart
14	chr1:170136600-170137000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:170136600-170137000	Enhancers	Fetal Stomach	stomach
16	chr1:170136600-170137200	Enhancers	Dnd41	blood
17	chr1:170136600-170137400	Enhancers	Ovary	ovary
18	chr1:170136600-170137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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