Variant report

Variant	rs1320360
Chromosome Location	chr2:112917102-112917103
allele	C/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	TCF12	chr2:112917091-112917508	GM12878	blood:	n/a	n/a
2	MAX	chr2:112917031-112917315	K562	blood:	n/a	n/a

Variant related genes	Relation type
FBLN7	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10189625	0.85[JPT][hapmap]
rs10196498	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10207420	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123128	0.92[JPT][hapmap]
rs11675443	0.92[JPT][hapmap]
rs1316488	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2312697	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4318395	0.84[JPT][hapmap]
rs4411701	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848272	0.92[JPT][hapmap]
rs4849045	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4849046	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849048	0.85[JPT][hapmap]
rs6542041	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755850	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7571942	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575979	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593053	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7607362	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112900600-112931400	Weak transcription	Fetal Lung	lung
3	chr2:112907200-112920400	Weak transcription	Right Atrium	heart
4	chr2:112912600-112927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:112913400-112922400	Weak transcription	Fetal Stomach	stomach
6	chr2:112913800-112918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:112913800-112923800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:112914200-112918800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:112914400-112921000	Weak transcription	HSMMtube	muscle
10	chr2:112914600-112918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:112914600-112918400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:112914600-112918600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:112914600-112918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:112914600-112919000	Weak transcription	Thymus	Thymus
15	chr2:112914600-112921000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:112915200-112917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:112915200-112918200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:112915200-112918400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:112915200-112921000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:112916800-112917200	Enhancers	HSMM	muscle
22	chr2:112916800-112918400	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:112917000-112917400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr2:112917000-112917400	Active TSS	Spleen	Spleen
25	chr2:112917000-112918600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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