Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:48379961-48380049	K562	blood:	n/a	n/a

Variant related genes	Relation type
COL2A1	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11168337	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1621710	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635534	0.86[ASN][1000 genomes]
rs1635535	0.86[ASN][1000 genomes]
rs1635536	0.82[ASN][1000 genomes]
rs1635537	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1635544	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1635547	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1635553	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1793911	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793912	0.85[ASN][1000 genomes]
rs1793913	0.85[ASN][1000 genomes]
rs1793915	0.85[ASN][1000 genomes]
rs1793917	0.82[ASN][1000 genomes]
rs1793923	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793924	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276454	0.80[AMR][1000 genomes]
rs2276455	0.81[AMR][1000 genomes]
rs3829734	0.90[ASN][1000 genomes]
rs3829736	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740024	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs917055	0.82[ASN][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:48363400-48383000	Weak transcription	Spleen	Spleen
4	chr12:48364400-48381200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:48365200-48381600	Weak transcription	Right Atrium	heart
6	chr12:48365400-48381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:48366200-48381200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:48366200-48381400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48366200-48381600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:48375000-48381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:48375200-48381200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:48376400-48380800	Strong transcription	Fetal Intestine Small	intestine
13	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48378400-48380000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:48378400-48381400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:48379000-48380800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:48379400-48382000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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