Variant report

Variant	rs11671545
Chromosome Location	chr19:56084745-56084746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56083186..56085315-chr19:56088635..56091609,2	MCF-7	breast:
2	chr19:56081046..56084845-chr19:56087911..56090786,3	MCF-7	breast:
3	chr19:56084606..56086374-chr19:56091308..56093026,2	K562	blood:
4	chr19:56084698..56086327-chr19:56096471..56098746,2	K562	blood:

Variant related genes	Relation type
ENSG00000267730	Chromatin interaction
ENSG00000218891	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1053817	1.00[ASN][1000 genomes]
rs11666636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667786	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668752	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669643	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902747	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331432	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60547841	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058305	1.00[ASN][1000 genomes]
rs73058308	1.00[ASN][1000 genomes]
rs73058310	1.00[ASN][1000 genomes]
rs73612853	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100277	1.00[ASN][1000 genomes]
rs8109904	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56067400-56088400	Weak transcription	Gastric	stomach
2	chr19:56075600-56087600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:56075800-56090400	Weak transcription	Psoas Muscle	Psoas
4	chr19:56076000-56088200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:56076000-56088200	Weak transcription	Left Ventricle	heart
6	chr19:56076000-56088400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:56076000-56091000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:56076000-56091000	Weak transcription	Right Atrium	heart
9	chr19:56076400-56088200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr19:56076400-56088600	Weak transcription	Colonic Mucosa	Colon
11	chr19:56076600-56091000	Weak transcription	Fetal Heart	heart
12	chr19:56078600-56087400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:56078600-56091000	Weak transcription	Fetal Kidney	kidney
14	chr19:56081000-56088200	Weak transcription	NHLF	lung
15	chr19:56081200-56088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:56081800-56091000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:56082200-56088800	Weak transcription	Pancreas	Pancrea
18	chr19:56082400-56088200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:56082600-56087600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:56083400-56086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:56083400-56087400	Weak transcription	Brain Germinal Matrix	brain
22	chr19:56083400-56087600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:56083800-56088400	Weak transcription	Spleen	Spleen
24	chr19:56083800-56091000	Weak transcription	HepG2	liver
25	chr19:56084000-56087600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:56084200-56088200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:56084200-56091000	Weak transcription	K562	blood
28	chr19:56084400-56088200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:56084400-56088400	Weak transcription	Right Ventricle	heart
30	chr19:56084600-56085000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:56084600-56087400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:56084600-56087400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:56084600-56087400	Weak transcription	Fetal Muscle Leg	muscle

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