Variant report

Variant	rs9309135
Chromosome Location	chr2:46748574-46748575
allele	A/C
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	RELA	chr2:46748407-46748873	GM19099	blood:	n/a	chr2:46748685-46748694 chr2:46748685-46748694
2	RELA	chr2:46748511-46748849	GM12878	blood:	n/a	chr2:46748685-46748694 chr2:46748685-46748694
3	SPI1	chr2:46748151-46748590	HL-60	blood:	n/a	chr2:46748365-46748372 chr2:46748362-46748375
4	RELA	chr2:46748257-46748901	GM12891	blood:	n/a	chr2:46748685-46748694 chr2:46748685-46748694
5	EBF1	chr2:46748554-46748834	GM12878	blood:	n/a	n/a
6	CEBPB	chr2:46748416-46748672	IMR90	lung:	n/a	n/a
7	SPI1	chr2:46748525-46748811	GM12878	blood:	n/a	n/a
8	RELA	chr2:46748353-46748839	GM18951	blood:	n/a	chr2:46748685-46748694 chr2:46748685-46748694
9	NFIC	chr2:46748496-46748850	GM12878	blood:	n/a	n/a
10	EBF1	chr2:46748519-46748882	GM12878	blood:	n/a	n/a
11	MAFK	chr2:46748379-46748639	IMR90	lung:	n/a	chr2:46748559-46748575
12	RELA	chr2:46748368-46748866	GM19193	blood:	n/a	chr2:46748685-46748694 chr2:46748685-46748694
13	RELA	chr2:46748366-46748860	GM18505	blood:	n/a	chr2:46748685-46748694 chr2:46748685-46748694

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46747246..46749675-chr2:46752290..46754206,2	K562	blood:

Variant related genes	Relation type
ATP6V1E2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1447562	0.84[CHB][hapmap]
rs2012022	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346416	0.86[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953394	1.00[CHB][hapmap]
rs56665981	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6713990	0.84[CHB][hapmap]
rs6719054	0.87[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7580254	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589747	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7599261	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7606227	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs896209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs896210	0.86[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46733800-46753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:46739600-46755000	Weak transcription	Aorta	Aorta
3	chr2:46743400-46758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:46744800-46761800	Weak transcription	A549	lung
5	chr2:46745800-46748600	Enhancers	Adipose Nuclei	Adipose
6	chr2:46746000-46749400	Enhancers	Fetal Lung	lung
7	chr2:46746000-46749400	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:46746000-46749400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:46746000-46749400	Enhancers	Placenta	Placenta
10	chr2:46746000-46749400	Enhancers	Fetal Stomach	stomach
11	chr2:46746200-46748800	Enhancers	Left Ventricle	heart
12	chr2:46746400-46748800	Enhancers	Ovary	ovary
13	chr2:46746400-46762800	Weak transcription	Liver	Liver
14	chr2:46746600-46749000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:46746800-46748800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:46747000-46748800	Enhancers	HSMMtube	muscle
17	chr2:46747200-46748800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:46747400-46748800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:46747400-46748800	Enhancers	NHLF	lung
20	chr2:46747600-46748800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:46747600-46749000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:46747600-46749400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:46747800-46748800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:46747800-46748800	Enhancers	HSMM	muscle
25	chr2:46747800-46749400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:46747800-46766800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:46748000-46748600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr2:46748200-46748600	Enhancers	Colonic Mucosa	Colon
29	chr2:46748200-46748800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:46748200-46748800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:46748200-46748800	Enhancers	NHDF-Ad	bronchial
32	chr2:46748200-46749400	Enhancers	Spleen	Spleen
33	chr2:46748200-46749400	Enhancers	GM12878-XiMat	blood
34	chr2:46748400-46748600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:46748400-46749600	Enhancers	Primary B cells from peripheral blood	blood

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