Variant report

Variant	rs73550097
Chromosome Location	chr16:48444752-48444753
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	GATA1	chr16:48443686-48444894	K562	blood:	n/a	n/a
2	EP300	chr16:48443916-48444797	ECC-1	luminal epithelium:	n/a	chr16:48444469-48444483
3	NFIC	chr16:48443725-48444827	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr16:48443814-48444800	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr16:48443900-48444752	ECC-1	luminal epithelium:	n/a	chr16:48444470-48444481
6	MAZ	chr16:48443834-48444756	IMR90	lung:	n/a	chr16:48444039-48444048 chr16:48444616-48444627

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48417393..48419556-chr16:48443282..48445688,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL54P	TF binding region
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
9	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	esv1795074	chr16:48418505-48459558	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48429400-48446000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:48439400-48444800	Weak transcription	Small Intestine	intestine
3	chr16:48441600-48444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:48442000-48447200	Enhancers	Placenta	Placenta
5	chr16:48442200-48445000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:48442600-48444800	Enhancers	NHLF	lung
7	chr16:48442600-48445600	Enhancers	Fetal Intestine Small	intestine
8	chr16:48442600-48445800	Enhancers	Duodenum Mucosa	Duodenum
9	chr16:48442800-48445600	Enhancers	Fetal Intestine Large	intestine
10	chr16:48443000-48444800	Enhancers	NHDF-Ad	bronchial
11	chr16:48443000-48445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:48443600-48444800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:48443600-48444800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:48443600-48445000	Enhancers	Liver	Liver
15	chr16:48443600-48445600	Enhancers	Colonic Mucosa	Colon
16	chr16:48443800-48444800	Enhancers	HMEC	breast
17	chr16:48444400-48444800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:48444400-48444800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr16:48444400-48444800	Enhancers	A549	lung
20	chr16:48444400-48445800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr16:48444400-48445800	Enhancers	Stomach Mucosa	stomach
22	chr16:48444600-48444800	Enhancers	Adipose Nuclei	Adipose
23	chr16:48444600-48444800	Enhancers	HepG2	liver
24	chr16:48444600-48444800	Enhancers	NHEK	skin
25	chr16:48444600-48445000	Enhancers	Hela-S3	cervix
26	chr16:48444600-48446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:48444600-48447400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:48444600-48447400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:48444600-48448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:48444600-48448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:48444600-48460800	Weak transcription	Right Atrium	heart

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