Variant report

Variant	rs1951832
Chromosome Location	chr13:76213643-76213644
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	BHLHE40	chr13:76213563-76213954	GM12878	blood:	n/a	n/a
2	NRF1	chr13:76213483-76213649	GM12878	blood:	n/a	n/a
3	MAZ	chr13:76213581-76213891	GM12878	blood:	n/a	chr13:76213807-76213818
4	NFATC1	chr13:76213463-76213939	GM12878	blood:	n/a	n/a
5	MXI1	chr13:76213564-76214032	GM12878	blood:	n/a	n/a
6	NFYB	chr13:76213551-76214026	GM12878	blood:	n/a	n/a
7	MAX	chr13:76213547-76213911	GM12878	blood:	n/a	chr13:76213807-76213818
8	BCL11A	chr13:76213581-76213966	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:76213547-76213789	ProgFib	skin:	n/a	n/a
10	TBL1XR1	chr13:76213634-76213928	GM12878	blood:	n/a	n/a
11	EBF1	chr13:76213640-76213959	GM12878	blood:	n/a	n/a
12	BCL11A	chr13:76213578-76213985	GM12878	blood:	n/a	n/a
13	EP300	chr13:76213579-76214079	GM12878	blood:	n/a	n/a
14	WRNIP1	chr13:76213585-76214053	GM12878	blood:	n/a	n/a
15	RUNX3	chr13:76213482-76213995	GM12878	blood:	n/a	n/a
16	EP300	chr13:76213589-76214023	GM12878	blood:	n/a	n/a
17	RCOR1	chr13:76213481-76213952	GM12878	blood:	n/a	n/a
18	CUX1	chr13:76213585-76213854	GM12878	blood:	n/a	n/a
19	CHD2	chr13:76213639-76214015	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76210811..76212641-chr13:76212952..76214964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261105	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006408	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10507832	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11616974	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1323692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570542	0.97[ASN][1000 genomes]
rs4885336	0.90[ASN][1000 genomes]
rs55825533	0.94[ASN][1000 genomes]
rs68028935	0.89[ASN][1000 genomes]
rs735822	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7995740	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7996197	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285297	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9318364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9593109	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600511	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600517	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1951832	RP11-173B14.5	cis	Nerve Tibial	GTEx
rs1951832	RP11-173B14.5	cis	lung	GTEx
rs1951832	RP11-173B14.5	cis	Skin Sun Exposed Lower leg	GTEx
rs1951832	RP11-173B14.5	cis	Artery Aorta	GTEx
rs1951832	RP11-173B14.5	cis	Artery Tibial	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
3	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
4	chr13:76210000-76214000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:76211000-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:76211200-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:76211400-76215600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
8	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
9	chr13:76211600-76215800	Weak transcription	Gastric	stomach
10	chr13:76211600-76215800	Transcr. at gene 5' and 3'	Osteobl	bone
11	chr13:76211600-76216200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:76211600-76235600	Weak transcription	Ovary	ovary
14	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
15	chr13:76211800-76214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:76211800-76215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:76211800-76215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:76211800-76215600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:76211800-76217800	Weak transcription	NHEK	skin
20	chr13:76211800-76218800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
22	chr13:76212000-76214000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:76212000-76223200	Weak transcription	Fetal Stomach	stomach
24	chr13:76212200-76213800	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr13:76212200-76216200	Weak transcription	HUVEC	blood vessel
26	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
27	chr13:76212400-76213800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:76212400-76240400	Weak transcription	HMEC	breast
30	chr13:76212600-76215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:76212600-76217800	Weak transcription	Dnd41	blood
32	chr13:76212600-76222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:76212800-76224600	Weak transcription	Fetal Kidney	kidney
34	chr13:76213000-76214200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:76213000-76221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:76213400-76214200	Flanking Active TSS	NH-A	brain
37	chr13:76213400-76215600	Enhancers	GM12878-XiMat	blood
38	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
39	chr13:76213600-76213800	Enhancers	Psoas Muscle	Psoas
40	chr13:76213600-76214200	Flanking Active TSS	NHLF	lung

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