Variant report

Variant	rs56284044
Chromosome Location	chr6:1935160-1935161
allele	A/G
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	POLR2A	chr6:1935142-1935177	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
GMDS	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11968615	1.00[AMR][1000 genomes]
rs56088586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347469	1.00[AMR][1000 genomes]
rs56403345	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56808713	1.00[AMR][1000 genomes]
rs56955166	1.00[AMR][1000 genomes]
rs57499788	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57708249	1.00[AMR][1000 genomes]
rs58263056	1.00[AMR][1000 genomes]
rs58632404	1.00[AMR][1000 genomes]
rs59618379	1.00[AMR][1000 genomes]
rs59887550	1.00[AMR][1000 genomes]
rs60523161	1.00[AMR][1000 genomes]
rs61355927	1.00[AMR][1000 genomes]
rs61635847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410433	1.00[AMR][1000 genomes]
rs73412537	1.00[AMR][1000 genomes]
rs73412572	1.00[AMR][1000 genomes]
rs73412576	1.00[AMR][1000 genomes]
rs73412601	1.00[AMR][1000 genomes]
rs73414503	1.00[AMR][1000 genomes]
rs73414507	1.00[AMR][1000 genomes]
rs73417921	1.00[AMR][1000 genomes]
rs73417937	1.00[AMR][1000 genomes]
rs73417944	1.00[AMR][1000 genomes]
rs73425506	1.00[AMR][1000 genomes]
rs73425523	1.00[AMR][1000 genomes]
rs73425536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425600	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427359	1.00[AMR][1000 genomes]
rs73427404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716903	0.93[AFR][1000 genomes]
rs73718508	1.00[AMR][1000 genomes]
rs7774602	1.00[AMR][1000 genomes]
rs7774932	1.00[AMR][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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv869043	chr6:1744238-2006788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv883384	chr6:1787862-1942538	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032149	chr6:1848148-2006021	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1905000-1970600	Weak transcription	Spleen	Spleen
2	chr6:1905400-1962000	Weak transcription	Pancreas	Pancrea
3	chr6:1910200-1965800	Weak transcription	Small Intestine	intestine
4	chr6:1915200-1937600	Weak transcription	Esophagus	oesophagus
5	chr6:1915800-1972800	Weak transcription	Colonic Mucosa	Colon
6	chr6:1916000-1960800	Weak transcription	Gastric	stomach
7	chr6:1918600-1946400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:1918600-1957800	Weak transcription	Dnd41	blood
9	chr6:1919600-1962400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:1924000-1952800	Weak transcription	Fetal Stomach	stomach
11	chr6:1924400-1941800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:1928000-1936400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:1928200-1940800	Weak transcription	Hela-S3	cervix
14	chr6:1928800-1938800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:1930400-1943400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:1930600-1936400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:1930600-1936600	Weak transcription	Aorta	Aorta
18	chr6:1930600-1952600	Weak transcription	Fetal Intestine Large	intestine
19	chr6:1932400-1936600	Weak transcription	HepG2	liver
20	chr6:1932400-1940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:1932400-1946800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:1933200-1938200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:1934400-1935600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:1934800-1943800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:1935000-1935200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
26	chr6:1935000-1935400	ZNF genes & repeats	Fetal Intestine Small	intestine

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