Variant report

Variant	rs57996888
Chromosome Location	chr19:55964325-55964326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55961478..55964648-chr19:56109795..56113001,3	K562	blood:
2	chr19:55952279..55955138-chr19:55963056..55965766,3	K562	blood:
3	chr19:55590562..55592991-chr19:55962507..55964456,2	K562	blood:
4	chr19:55768403..55770603-chr19:55963034..55965781,2	K562	blood:
5	chr19:55956258..55958945-chr19:55964103..55966551,2	K562	blood:
6	chr19:55963302..55966247-chr19:56117122..56119582,2	K562	blood:
7	chr19:55962879..55966431-chr19:56013063..56017664,4	K562	blood:
8	chr19:55963237..55966425-chr19:55989269..55992485,3	K562	blood:
9	chr19:55683561..55685355-chr19:55963248..55964995,2	K562	blood:
10	chr19:55951925..55955138-chr19:55963056..55965766,4	K562	blood:
11	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
12	chr19:55963041..55966300-chr19:55968298..55973344,6	MCF-7	breast:
13	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
14	chr19:55961478..55964648-chr19:56109524..56113001,4	K562	blood:
15	chr19:55962879..55966271-chr19:56014948..56017664,3	K562	blood:
16	chr19:55917232..55920888-chr19:55959942..55966428,7	K562	blood:
17	chr19:55962858..55966620-chr19:55998648..56002437,4	K562	blood:
18	chr19:55895254..55899821-chr19:55961359..55968155,8	K562	blood:
19	chr19:55728618..55730595-chr19:55962946..55964523,2	K562	blood:
20	chr19:55962707..55966415-chr19:56152837..56156064,3	K562	blood:
21	chr19:55962858..55965792-chr19:55998648..56000316,2	K562	blood:
22	chr19:55964045..55966011-chr19:56013009..56014563,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171443	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11673666	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61555067	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	228 gene(s)	inside rSNPs	diseases
2	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
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	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
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	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
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55960600-55966600	Weak transcription	Pancreas	Pancrea
2	chr19:55960800-55964600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:55961800-55965000	Active TSS	Brain Angular Gyrus	brain
4	chr19:55962200-55964600	Active TSS	Brain Cingulate Gyrus	brain
5	chr19:55962400-55964600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr19:55962600-55964800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:55962800-55964400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:55962800-55964400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr19:55962800-55964600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:55962800-55964800	Enhancers	Primary B cells from cord blood	blood
11	chr19:55963000-55964400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr19:55963000-55964400	Enhancers	Gastric	stomach
13	chr19:55963000-55964400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr19:55963000-55964400	Flanking Bivalent TSS/Enh	Thymus	Thymus
15	chr19:55963000-55964600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:55963000-55964600	Enhancers	Liver	Liver
17	chr19:55963000-55964600	Active TSS	Brain Substantia Nigra	brain
18	chr19:55963000-55964600	Bivalent Enhancer	Placenta	Placenta
19	chr19:55963000-55964800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:55963000-55964800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:55963200-55964400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:55963200-55964600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:55963200-55964600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:55963200-55964600	Weak transcription	HepG2	liver
25	chr19:55963400-55964600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:55963600-55964400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:55963600-55964400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr19:55963600-55964800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr19:55963800-55964400	Active TSS	Right Atrium	heart
30	chr19:55963800-55964400	Flanking Active TSS	Dnd41	blood
31	chr19:55963800-55964600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr19:55963800-55964600	Enhancers	Spleen	Spleen
33	chr19:55963800-55971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:55964000-55964400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:55964000-55964400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:55964000-55964400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr19:55964000-55964400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:55964000-55964400	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr19:55964000-55964400	Flanking Active TSS	Ovary	ovary
40	chr19:55964000-55964600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:55964000-55964600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr19:55964000-55964600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr19:55964000-55964600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:55964000-55964600	Active TSS	Brain Anterior Caudate	brain
45	chr19:55964000-55964600	Active TSS	Brain Hippocampus Middle	brain
46	chr19:55964000-55964600	Bivalent Enhancer	Fetal Thymus	thymus
47	chr19:55964000-55964800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr19:55964000-55964800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr19:55964000-55964800	Active TSS	Brain Germinal Matrix	brain
50	chr19:55964000-55964800	Enhancers	Fetal Brain Male	brain

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