Variant report

Variant	rs13072748
Chromosome Location	chr3:49837232-49837233
allele	C/T
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	CEBPB	chr3:49837229-49837459	A549	lung:	n/a	n/a
2	FOS	chr3:49837132-49837525	MCF10A-Er-Src	breast:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
3	MAX	chr3:49837107-49837327	A549	lung:	n/a	n/a
4	FOSL2	chr3:49837205-49837553	MCF-7	breast:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
5	CEBPB	chr3:49837166-49837499	Hela-S3	cervix:	n/a	n/a
6	FOS	chr3:49837131-49837530	MCF10A-Er-Src	breast:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
7	MAX	chr3:49836939-49837577	A549	lung:	n/a	n/a
8	FOSL2	chr3:49837009-49837480	A549	lung:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
9	CEBPB	chr3:49837167-49837548	A549	lung:	n/a	n/a
10	FOS	chr3:49837152-49837488	MCF10A-Er-Src	breast:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
11	FOS	chr3:49837135-49837513	MCF10A-Er-Src	breast:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
12	POLR2A	chr3:49837021-49837390	Hela-S3	cervix:	n/a	n/a
13	MYC	chr3:49837053-49837483	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr3:49837158-49837345	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr3:49837173-49837421	HepG2	liver:	n/a	chr3:49837310-49837318 chr3:49837312-49837321
16	MYC	chr3:49837168-49837496	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr3:49837169-49837497	K562	blood:	n/a	n/a
18	FOSL2	chr3:49837163-49837437	A549	lung:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
19	JUND	chr3:49837208-49837444	HepG2	liver:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837298-49837309 chr3:49837390-49837400
20	RFX5	chr3:49837193-49837467	Hela-S3	cervix:	n/a	chr3:49837310-49837318 chr3:49837312-49837321
21	E2F4	chr3:49837211-49837535	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr3:49837096-49837445	HepG2	liver:	n/a	chr3:49837390-49837400 chr3:49837301-49837312 chr3:49837390-49837400 chr3:49837300-49837308 chr3:49837298-49837310 chr3:49837390-49837400
23	CTCF	chr3:49837200-49837350	HCPEpiC	choroid plexus:	n/a	n/a
24	POLR2A	chr3:49837130-49837429	MCF10A-Er-Src	breast:	n/a	n/a
25	CEBPB	chr3:49837171-49837456	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:49837205-49837251	MCF-7	breast:	n/a	n/a
27	CEBPB	chr3:49837149-49837549	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49835114..49838114-chr3:49838714..49841176,3	K562	blood:
2	chr3:49830703..49832221-chr3:49836417..49838568,2	K562	blood:
3	chr3:49830703..49832538-chr3:49835822..49838568,4	K562	blood:

Variant related genes	Relation type
FAM212A	TF binding region
ENSG00000187492	Chromatin interaction
ENSG00000185614	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12486358	1.00[CHB][hapmap]
rs13078735	1.00[CHB][hapmap]
rs2230591	1.00[CHB][hapmap]
rs2230593	1.00[CHB][hapmap]
rs7433231	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49825600-49840000	Weak transcription	Spleen	Spleen
2	chr3:49833200-49838800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:49833400-49838800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:49835200-49839800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:49836200-49837400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:49836200-49838600	Enhancers	HepG2	liver
7	chr3:49836400-49837400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:49836400-49837600	Enhancers	Esophagus	oesophagus
9	chr3:49836400-49837600	Enhancers	HMEC	breast
10	chr3:49836600-49837400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:49836600-49837600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:49836600-49837600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:49836600-49837600	Enhancers	HSMM	muscle
14	chr3:49836600-49837600	Enhancers	NHDF-Ad	bronchial
15	chr3:49836600-49837800	Enhancers	Stomach Mucosa	stomach
16	chr3:49836600-49838000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:49836800-49837400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:49836800-49837400	Enhancers	Stomach Smooth Muscle	stomach
19	chr3:49836800-49837400	Flanking Active TSS	A549	lung
20	chr3:49836800-49837400	Enhancers	HSMMtube	muscle
21	chr3:49836800-49837400	Enhancers	NHLF	lung
22	chr3:49836800-49837600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:49836800-49837600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:49836800-49837600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:49836800-49837600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:49836800-49837600	Enhancers	Adipose Nuclei	Adipose
27	chr3:49836800-49837600	Enhancers	Placenta	Placenta
28	chr3:49836800-49837600	Flanking Active TSS	Hela-S3	cervix
29	chr3:49836800-49837800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:49836800-49837800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:49837000-49837400	Enhancers	Fetal Muscle Trunk	muscle
32	chr3:49837000-49837400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:49837000-49837400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:49837000-49837600	Enhancers	K562	blood
35	chr3:49837000-49837600	Enhancers	NHEK	skin
36	chr3:49837000-49837600	Enhancers	Osteobl	bone
37	chr3:49837200-49837600	Enhancers	NH-A	brain
38	chr3:49837200-49837800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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