Variant report

Variant	rs12120310
Chromosome Location	chr1:57623521-57623522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789044	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073675	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12123599	0.91[AMR][1000 genomes]
rs1413226	0.88[AMR][1000 genomes]
rs1504588	0.91[AMR][1000 genomes]
rs1504589	0.84[AMR][1000 genomes]
rs17482565	0.88[AMR][1000 genomes]
rs17541356	0.90[AMR][1000 genomes]
rs17541479	0.91[AMR][1000 genomes]
rs4912429	0.84[AMR][1000 genomes]
rs4912430	0.84[AMR][1000 genomes]
rs4912431	0.84[AMR][1000 genomes]
rs4912432	0.84[AMR][1000 genomes]
rs55944821	0.84[AMR][1000 genomes]
rs6670988	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs6680219	0.84[AMR][1000 genomes]
rs7552759	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57621400-57627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57622000-57628000	Weak transcription	Pancreas	Pancrea
3	chr1:57622400-57624200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:57622400-57624400	Enhancers	Fetal Intestine Large	intestine
5	chr1:57622400-57624800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:57622600-57624600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:57622600-57624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:57622600-57624800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:57622800-57624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57622800-57624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57622800-57624600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57623000-57623800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:57623000-57624200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:57623200-57623600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:57623200-57624400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:57623200-57624400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:57623200-57624800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:57623200-57635400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:57623400-57623800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:57623400-57624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:57623400-57624000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:57623400-57624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:57623400-57626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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