Variant report

Variant	rs10414244
Chromosome Location	chr19:56021688-56021689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56019496..56022057-chr19:56135833..56137342,2	K562	blood:
2	chr19:56014718..56019084-chr19:56019924..56023018,4	K562	blood:
3	chr19:56014155..56016792-chr19:56021518..56023180,2	K562	blood:
4	chr19:56019838..56022179-chr19:56023340..56025299,2	K562	blood:
5	chr19:55987780..55989483-chr19:56020718..56023209,2	K562	blood:
6	chr19:56019846..56025284-chr19:56025302..56028419,5	K562	blood:

Variant related genes	Relation type
ENSG00000197483	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000269859	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4252545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
2	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
3	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv912482	chr19:55972950-56062949	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv458833	chr19:55977909-56033088	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv580343	chr19:55977909-56033088	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912485	chr19:55977909-56050844	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv912490	chr19:55990975-56058737	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv912491	chr19:55990975-56062949	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv912492	chr19:55990975-56066163	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv912493	chr19:56009881-56058737	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56015600-56024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr19:56015600-56024200	Weak transcription	Ovary	ovary
3	chr19:56015600-56028200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:56015600-56028600	Weak transcription	Right Atrium	heart
5	chr19:56015800-56022600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:56015800-56024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:56015800-56024200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:56015800-56024200	Weak transcription	NHLF	lung
9	chr19:56015800-56024400	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:56015800-56024600	Weak transcription	Spleen	Spleen
11	chr19:56015800-56028000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:56015800-56028000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:56015800-56028000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:56015800-56028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:56015800-56028200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:56015800-56028400	Weak transcription	Fetal Lung	lung
17	chr19:56015800-56028400	Weak transcription	Left Ventricle	heart
18	chr19:56015800-56028400	Weak transcription	Right Ventricle	heart
19	chr19:56015800-56028600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:56015800-56028600	Weak transcription	NHDF-Ad	bronchial
21	chr19:56016000-56024200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:56017000-56028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:56019400-56021800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr19:56019600-56024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:56019600-56024200	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:56021000-56022600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:56021000-56022600	Weak transcription	Osteobl	bone

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