Variant report

Variant	rs12043984
Chromosome Location	chr1:119028752-119028753
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12039798	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043668	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1324727	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17038321	0.97[EUR][1000 genomes]
rs2221528	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1006143	chr1:118886864-119037964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv535073	chr1:118886864-119037964	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1001757	chr1:118973624-119048181	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1004804	chr1:118975209-119048663	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1003425	chr1:118983592-119045934	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv535074	chr1:118983592-119045934	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1013186	chr1:119005483-119048663	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 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	chr1:119026800-119029600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:119027000-119029400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:119027600-119030000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:119027800-119029800	Enhancers	HMEC	breast
5	chr1:119027800-119030000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:119028000-119030800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:119028000-119031200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:119028200-119029400	Enhancers	NHEK	skin
9	chr1:119028400-119028800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:119028400-119029000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:119028400-119029200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:119028400-119029400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:119028400-119030000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:119028600-119029000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:119028600-119029600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:119028600-119029600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:119028600-119030000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:119028600-119032800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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

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