Variant report

Variant	rs6490243
Chromosome Location	chr12:119613125-119613126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:119613014-119613327	Hela-S3	cervix:	n/a	n/a
2	ZNF143	chr12:119613045-119613210	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
HSPB8	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11064693	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11064700	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1133026	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2278182	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs722306	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722307	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7303610	0.88[CEU][hapmap]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119597400-119613800	Weak transcription	Aorta	Aorta
2	chr12:119598400-119613800	Weak transcription	Right Atrium	heart
3	chr12:119604400-119613600	Enhancers	Placenta	Placenta
4	chr12:119609000-119616000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:119609400-119613800	Weak transcription	Esophagus	oesophagus
6	chr12:119609400-119614000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:119609800-119615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:119610000-119613200	Weak transcription	Hela-S3	cervix
9	chr12:119610200-119613800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:119610200-119614000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:119611200-119614000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:119611200-119614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:119611400-119616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:119611600-119613800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:119612200-119613200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:119612200-119613400	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:119612200-119615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:119612400-119614000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:119612600-119614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:119612600-119614000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:119612600-119614400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:119612600-119614600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:119612800-119613200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr12:119612800-119613800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:119613000-119613200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:119613000-119613200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:119613000-119613600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:119613000-119614200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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