Variant report

Variant	rs57817750
Chromosome Location	chr19:44135707-44135708
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44126223..44128182-chr19:44135324..44137117,2	MCF-7	breast:
2	chr19:44134611..44137658-chr19:44142344..44144756,3	MCF-7	breast:
3	chr19:44131324..44133341-chr19:44135623..44138408,2	K562	blood:
4	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
5	chr19:44098898..44101153-chr19:44134131..44136848,3	K562	blood:
6	chr19:44122314..44129769-chr19:44133350..44139066,11	MCF-7	breast:
7	chr19:44123754..44125660-chr19:44135176..44137311,2	MCF-7	breast:
8	chr19:44132706..44137711-chr19:44141592..44145407,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226763	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000167378	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs168310	1.00[ASN][1000 genomes]
rs2854497	1.00[ASN][1000 genomes]
rs3213316	1.00[ASN][1000 genomes]
rs3213321	1.00[ASN][1000 genomes]
rs3213322	1.00[ASN][1000 genomes]
rs3213348	1.00[ASN][1000 genomes]
rs34439296	1.00[ASN][1000 genomes]
rs34471331	1.00[ASN][1000 genomes]
rs346049	1.00[ASN][1000 genomes]
rs399300	1.00[ASN][1000 genomes]
rs4251895	1.00[ASN][1000 genomes]
rs4251915	1.00[ASN][1000 genomes]
rs56204051	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60175550	1.00[ASN][1000 genomes]
rs60273962	1.00[ASN][1000 genomes]
rs60889018	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257640	1.00[ASN][1000 genomes]
rs73554667	1.00[ASN][1000 genomes]
rs73554679	1.00[ASN][1000 genomes]
rs73554696	1.00[ASN][1000 genomes]
rs73556565	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73556581	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8104645	1.00[ASN][1000 genomes]
rs8110767	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
2	chr19:44124800-44138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:44124800-44138800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:44124800-44139000	Weak transcription	Colon Smooth Muscle	Colon
5	chr19:44125000-44139200	Weak transcription	Pancreas	Pancrea
6	chr19:44125200-44137400	Weak transcription	HepG2	liver
7	chr19:44128600-44138800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:44129000-44138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:44129200-44138200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr19:44130800-44138400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:44131000-44138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:44131200-44138200	Weak transcription	Esophagus	oesophagus
13	chr19:44131200-44139400	Weak transcription	Spleen	Spleen
14	chr19:44131400-44137000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:44131400-44138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44131400-44138400	Weak transcription	Fetal Stomach	stomach
17	chr19:44131400-44138800	Weak transcription	Fetal Intestine Small	intestine
18	chr19:44131600-44138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:44131600-44138400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:44131800-44138800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:44131800-44139000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:44132000-44136200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:44132000-44137600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:44132000-44138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44132000-44138800	Weak transcription	K562	blood
26	chr19:44133200-44137600	Weak transcription	Brain Anterior Caudate	brain
27	chr19:44133600-44137400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:44133600-44138000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:44133600-44138200	Weak transcription	Brain Angular Gyrus	brain
30	chr19:44133600-44138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:44133800-44138000	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:44134000-44135800	Weak transcription	Brain Germinal Matrix	brain
33	chr19:44134200-44136800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:44135000-44137800	Weak transcription	Brain Substantia Nigra	brain
35	chr19:44135200-44138200	Weak transcription	Fetal Brain Female	brain
36	chr19:44135400-44136200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:44135400-44138200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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