Variant report

Variant	rs7721104
Chromosome Location	chr5:107719919-107719920
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:107715759-107719979	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:107716150-107721128	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:107719899-107720101	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:107715567-107721797	GM12891	blood:	n/a	n/a
5	POLR2A	chr5:107716891-107721217	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:107716862-107721767	K562	blood:	n/a	n/a
7	POLR2A	chr5:107715650-107720235	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:64105488..64107336-chr5:107718780..107720666,2	MCF-7	breast:
2	chr5:107703017..107709518-chr5:107714821..107720551,7	MCF-7	breast:
3	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:
4	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-2	chr5:107717801-107724211	NONHSAT103120

No data

Variant related genes	Relation type
FBXL17	TF binding region
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10477892	0.92[ASN][1000 genomes]
rs10477895	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13161833	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1355375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544741	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1588496	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161232	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1828457	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862196	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2052464	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2416189	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2416190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2900034	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2900122	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2941693	0.91[ASN][1000 genomes]
rs2941694	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2966830	0.91[ASN][1000 genomes]
rs2966832	0.91[ASN][1000 genomes]
rs2966834	0.92[ASN][1000 genomes]
rs34747859	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4524496	0.82[ASN][1000 genomes]
rs4957755	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62359544	0.85[ASN][1000 genomes]
rs6594299	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6594300	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6896653	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71592749	0.91[ASN][1000 genomes]
rs7711964	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7724056	0.87[ASN][1000 genomes]
rs7726485	0.81[AFR][1000 genomes]
rs9326726	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs988436	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs988437	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107718800-107720200	Weak transcription	HSMM	muscle
2	chr5:107718800-107731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:107719000-107720200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:107719000-107722000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:107719000-107722200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:107719000-107722200	Weak transcription	NHDF-Ad	bronchial
7	chr5:107719000-107722200	Weak transcription	Osteobl	bone
8	chr5:107719000-107723800	Weak transcription	Fetal Brain Female	brain
9	chr5:107719200-107720000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:107719200-107720000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:107719200-107720000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:107719200-107720800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:107719200-107720800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:107719200-107721200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:107719200-107722800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:107719400-107720000	Enhancers	Primary T cells from cord blood	blood
17	chr5:107719400-107720000	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:107719400-107720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:107719400-107720000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:107719400-107720600	Enhancers	Primary B cells from cord blood	blood
21	chr5:107719400-107721200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:107719400-107721800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:107719400-107723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:107719600-107720000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:107719600-107720800	Weak transcription	GM12878-XiMat	blood
26	chr5:107719800-107721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:107719800-107721600	Weak transcription	HepG2	liver

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