Variant report

Variant	rs57454146
Chromosome Location	chr19:45577534-45577535
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45577371-45577663	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:45577478-45580093	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:45577453-45577630	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:45539637..45542355-chr19:45575857..45577749,2	K562	blood:
2	chr19:45250150..45252918-chr19:45577145..45579588,2	MCF-7	breast:
3	chr19:45576842..45580642-chr19:45581354..45584198,7	K562	blood:
4	chr19:45576986..45585099-chr19:45592126..45598719,16	MCF-7	breast:
5	chr19:45577323..45580902-chr19:45580931..45584945,6	K562	blood:
6	chr19:45577259..45585589-chr19:45592358..45603656,27	K562	blood:
7	chr19:45576925..45579935-chr19:45630733..45635307,5	MCF-7	breast:
8	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:

No data

Variant related genes	Relation type
GEMIN7	TF binding region
ENSG00000069399	Chromatin interaction
ENSG00000267348	Chromatin interaction
ENSG00000007047	Chromatin interaction
ENSG00000267346	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000104859	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16979659	1.00[AMR][1000 genomes]
rs16979703	1.00[AMR][1000 genomes]
rs56213215	1.00[AMR][1000 genomes]
rs56405239	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58584483	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60509946	1.00[AMR][1000 genomes]
rs60530130	1.00[AMR][1000 genomes]
rs73939603	1.00[AMR][1000 genomes]
rs73939647	1.00[AMR][1000 genomes]
rs73939649	1.00[AMR][1000 genomes]
rs73941103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941104	0.81[AFR][1000 genomes];1.00[AMR][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	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45553400-45578800	Weak transcription	Right Atrium	heart
2	chr19:45556400-45577800	Strong transcription	Fetal Intestine Small	intestine
3	chr19:45564800-45578000	Weak transcription	Hela-S3	cervix
4	chr19:45564800-45578200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:45564800-45579800	Weak transcription	Fetal Kidney	kidney
6	chr19:45565000-45578200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:45565400-45578000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:45566000-45577800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:45566200-45579800	Weak transcription	Fetal Heart	heart
10	chr19:45567800-45578800	Weak transcription	Psoas Muscle	Psoas
11	chr19:45571400-45579000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:45573200-45577600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:45573600-45577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:45573800-45577600	Weak transcription	Fetal Brain Male	brain
15	chr19:45573800-45578400	Weak transcription	NHDF-Ad	bronchial
16	chr19:45574000-45577800	Weak transcription	HepG2	liver
17	chr19:45574000-45577800	Weak transcription	HSMMtube	muscle
18	chr19:45574000-45578200	Weak transcription	HUVEC	blood vessel
19	chr19:45574000-45578400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:45574000-45578400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:45574000-45579000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:45574400-45577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:45574400-45577800	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:45574600-45578400	Weak transcription	NH-A	brain
25	chr19:45574600-45578800	Weak transcription	HSMM	muscle
26	chr19:45574800-45578200	Weak transcription	Small Intestine	intestine
27	chr19:45574800-45578800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:45574800-45578800	Weak transcription	HMEC	breast
29	chr19:45574800-45578800	Weak transcription	Osteobl	bone
30	chr19:45574800-45579000	Weak transcription	Brain Anterior Caudate	brain
31	chr19:45574800-45579000	Weak transcription	Brain Substantia Nigra	brain
32	chr19:45574800-45579600	Weak transcription	Fetal Lung	lung
33	chr19:45574800-45581800	Weak transcription	Dnd41	blood
34	chr19:45575000-45577800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:45575000-45577800	Weak transcription	K562	blood
36	chr19:45575000-45578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:45575000-45578200	Weak transcription	NHEK	skin
38	chr19:45575000-45578800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:45575000-45579000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:45575000-45579400	Weak transcription	Ovary	ovary
41	chr19:45575000-45579600	Weak transcription	Aorta	Aorta
42	chr19:45575200-45577600	Weak transcription	A549	lung
43	chr19:45575200-45577800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:45575200-45578200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:45575200-45578400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:45575200-45578600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr19:45575200-45578800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:45575200-45579000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:45575400-45578000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:45575400-45578200	Weak transcription	Pancreas	Pancrea

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