Variant report

Variant	rs12981506
Chromosome Location	chr19:56075058-56075059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56026885..56028418-chr19:56074241..56076587,2	K562	blood:
2	chr19:56074703..56077083-chr19:56080095..56081698,2	K562	blood:
3	chr19:56074576..56078356-chr19:56090037..56093294,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218891	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	esv3368515	chr19:56074390-56076288	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56061800-56075400	Weak transcription	Right Atrium	heart
2	chr19:56065200-56075400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:56066800-56075600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:56067400-56088400	Weak transcription	Gastric	stomach
5	chr19:56074400-56075400	Enhancers	Stomach Mucosa	stomach
6	chr19:56074400-56075600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:56074400-56075600	Enhancers	Fetal Muscle Leg	muscle
8	chr19:56074400-56075800	Enhancers	Brain Germinal Matrix	brain
9	chr19:56074400-56075800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr19:56074400-56076200	Enhancers	Fetal Intestine Small	intestine
11	chr19:56074400-56076400	Enhancers	Fetal Intestine Large	intestine
12	chr19:56074400-56076600	Enhancers	Fetal Heart	heart
13	chr19:56074600-56075200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:56074600-56075600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr19:56074600-56075600	Bivalent Enhancer	HepG2	liver
16	chr19:56074600-56075800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr19:56074600-56076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:56074600-56076000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr19:56074600-56076000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr19:56074600-56076600	Enhancers	Duodenum Mucosa	Duodenum
21	chr19:56074800-56075600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:56074800-56075600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:56074800-56075600	Enhancers	Hela-S3	cervix
24	chr19:56074800-56076000	Active TSS	Left Ventricle	heart
25	chr19:56074800-56076200	Active TSS	Right Ventricle	heart
26	chr19:56074800-56076400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:56075000-56075400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:56075000-56075600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:56075000-56075800	Weak transcription	Fetal Lung	lung
30	chr19:56075000-56076000	Enhancers	Fetal Brain Male	brain
31	chr19:56075000-56078200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:56075000-56078400	Weak transcription	Fetal Kidney	kidney

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