Variant report

Variant	rs72704075
Chromosome Location	chr1:161675994-161675995
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	GATA3	chr1:161675907-161676881	SK-N-SH	brain:	n/a	chr1:161676272-161676285 chr1:161676270-161676281 chr1:161676535-161676542 chr1:161676334-161676341
2	RUNX3	chr1:161675271-161677304	GM12878	blood:	n/a	n/a
3	MTA3	chr1:161675888-161677287	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:161675835-161676863	U87	brain:	n/a	n/a
5	RUNX3	chr1:161675286-161677289	GM12878	blood:	n/a	n/a
6	ATF2	chr1:161675907-161677472	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:161675236-161678018	Raji	blood:	n/a	n/a
8	POLR2A	chr1:161675911-161676739	U87	brain:	n/a	n/a
9	ZNF384	chr1:161675970-161676077	K562	blood:	n/a	n/a
10	POLR2A	chr1:161675911-161676749	U87	brain:	n/a	n/a
11	STAT5A	chr1:161675882-161677406	GM12878	blood:	n/a	chr1:161676414-161676421
12	CREB1	chr1:161675898-161677204	GM12878	blood:	n/a	n/a
13	YY1	chr1:161675851-161676319	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:161675955-161677251	GM12878	blood:	n/a	chr1:161676927-161676936
15	JUN	chr1:161675718-161677686	K562	blood:	n/a	n/a
16	PML	chr1:161675867-161678178	GM12878	blood:	n/a	n/a
17	NFIC	chr1:161675191-161677857	GM12878	blood:	n/a	chr1:161676310-161676327 chr1:161676310-161676326
18	CREB1	chr1:161675780-161677327	GM12878	blood:	n/a	n/a
19	CEBPB	chr1:161675767-161676886	IMR90	lung:	n/a	chr1:161676701-161676712
20	MTA3	chr1:161675256-161678479	GM12878	blood:	n/a	n/a
21	FOXM1	chr1:161675874-161677308	GM12878	blood:	n/a	n/a
22	MEF2A	chr1:161675928-161676884	SK-N-SH	brain:	n/a	chr1:161676446-161676461

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161667779..161671071-chr1:161673847..161676940,3	K562	blood:
2	chr1:161673791..161676241-chr1:161677854..161679843,2	K562	blood:

Variant related genes	Relation type
FCRLA	TF binding region
ENSG00000199595	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs72704062	1.00[AFR][1000 genomes]
rs72706034	1.00[AFR][1000 genomes]
rs72706039	1.00[AFR][1000 genomes]
rs72706043	1.00[AFR][1000 genomes]
rs72706058	1.00[AFR][1000 genomes]
rs72708088	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv2755678	chr1:161463498-161678377	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	esv1822760	chr1:161480943-161687379	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv1817508	chr1:161483404-161678548	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv2753408	chr1:161514302-161676557	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv429825	chr1:161514302-161676557	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161672800-161676400	Weak transcription	HepG2	liver
2	chr1:161674400-161676000	Weak transcription	Right Atrium	heart
3	chr1:161674400-161676400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:161674800-161676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:161675400-161676000	Enhancers	Osteobl	bone
6	chr1:161675400-161676200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:161675400-161676200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:161675400-161676600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:161675400-161676800	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:161675400-161677000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:161675400-161677600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:161675400-161677600	Enhancers	HMEC	breast
13	chr1:161675400-161677600	Enhancers	HSMM	muscle
14	chr1:161675400-161677600	Enhancers	NHLF	lung
15	chr1:161675400-161678200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:161675400-161678400	Enhancers	NHDF-Ad	bronchial
17	chr1:161675600-161676000	Enhancers	Primary B cells from cord blood	blood
18	chr1:161675800-161676000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:161675800-161677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:161675800-161677200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:161675800-161677200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:161675800-161677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:161675800-161680600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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