Variant report

Variant	rs57873846
Chromosome Location	chr19:44454837-44454838
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:44454794-44455825	A549	lung:	n/a	n/a
2	GATA3	chr19:44454821-44455745	A549	lung:	n/a	chr19:44455522-44455532 chr19:44455020-44455028
3	SIX5	chr19:44454771-44455785	A549	lung:	n/a	chr19:44455366-44455375 chr19:44455368-44455377 chr19:44455365-44455379
4	GABPA	chr19:44454833-44455823	A549	lung:	n/a	n/a
5	CEBPB	chr19:44454833-44455624	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44439254..44441098-chr19:44452141..44456291,4	K562	blood:

Variant related genes	Relation type
ZNF221	TF binding region
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10407513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10411144	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10414499	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10416702	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10419785	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2159622	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2299937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73933625	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44453400-44455000	Weak transcription	Esophagus	oesophagus
2	chr19:44453400-44455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:44453400-44455200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44453600-44455000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:44453600-44455200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:44453600-44455200	Weak transcription	Pancreas	Pancrea
7	chr19:44454400-44456000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:44454800-44455000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr19:44454800-44455000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr19:44454800-44455000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:44454800-44455000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr19:44454800-44455000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:44454800-44455000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:44454800-44455000	Active TSS	Adipose Nuclei	Adipose
15	chr19:44454800-44455000	Enhancers	Hela-S3	cervix
16	chr19:44454800-44455200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr19:44454800-44455200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:44454800-44455200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:44454800-44455400	Active TSS	Primary B cells from cord blood	blood
20	chr19:44454800-44455400	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr19:44454800-44455600	Active TSS	Primary hematopoietic stem cells	blood
22	chr19:44454800-44455600	Active TSS	Liver	Liver
23	chr19:44454800-44455600	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:44454800-44455800	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr19:44454800-44456000	Active TSS	Colonic Mucosa	Colon
26	chr19:44454800-44456000	Active TSS	Duodenum Mucosa	Duodenum
27	chr19:44454800-44456000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:44454800-44456000	Active TSS	A549	lung
29	chr19:44454800-44456000	Active TSS	GM12878-XiMat	blood
30	chr19:44454800-44456000	Active TSS	K562	blood
31	chr19:44454800-44456000	Active TSS	NHEK	skin
32	chr19:44454800-44456200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44454800-44456200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:44454800-44456200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:44454800-44456200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:44454800-44456400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:44454800-44456400	Active TSS	Brain Anterior Caudate	brain
38	chr19:44454800-44456400	Active TSS	Brain Hippocampus Middle	brain
39	chr19:44454800-44456400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:44454800-44456400	Active TSS	HMEC	breast
41	chr19:44454800-44456600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:44454800-44456600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr19:44454800-44456600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr19:44454800-44456600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:44454800-44456600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr19:44454800-44456600	Active TSS	Rectal Smooth Muscle	rectum
47	chr19:44454800-44456600	Flanking Active TSS	Dnd41	blood
48	chr19:44454800-44456600	Active TSS	HUVEC	blood vessel
49	chr19:44454800-44456800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr19:44454800-44456800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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