Variant report

Variant	rs1879387
Chromosome Location	chr19:44127261-44127262
allele	C/G
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:6)
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	chr19:44126833-44129949	K562	blood:	n/a	n/a
2	POLR2A	chr19:44127232-44127269	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:44127248-44127270	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
2	chr19:44122279..44128380-chr19:44171168..44174381,7	K562	blood:
3	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
4	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
5	chr19:44126223..44128182-chr19:44135324..44137117,2	MCF-7	breast:
6	chr19:44126234..44128942-chr19:44160943..44162925,2	K562	blood:

No data

Variant related genes	Relation type
ZNF428	TF binding region
ENSG00000226763	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000011422	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11083712	0.91[EUR][1000 genomes]
rs11671645	0.94[EUR][1000 genomes]
rs12461175	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1402325	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1402326	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17655574	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2003098	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2079646	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2302421	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3746002	0.94[EUR][1000 genomes]
rs3746003	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3815422	0.94[EUR][1000 genomes]
rs4803643	0.93[EUR][1000 genomes]
rs4803644	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73038867	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs767540	0.87[EUR][1000 genomes]
rs880108	0.89[AMR][1000 genomes];0.92[EUR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44127600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:44124600-44127600	Weak transcription	Placenta	Placenta
3	chr19:44124600-44127800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44124600-44128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:44124600-44129000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:44124600-44129200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:44124600-44130200	Weak transcription	Esophagus	oesophagus
8	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
9	chr19:44124800-44128800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:44124800-44128800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:44124800-44128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:44124800-44128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:44124800-44129000	Weak transcription	Primary B cells from cord blood	blood
14	chr19:44124800-44129000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:44124800-44129600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:44124800-44129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44124800-44131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:44124800-44138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:44124800-44138800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:44124800-44139000	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:44125000-44127400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44125000-44127400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:44125000-44127400	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:44125000-44127400	Weak transcription	Brain Substantia Nigra	brain
25	chr19:44125000-44127800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:44125000-44128000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:44125000-44128200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:44125000-44128600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:44125000-44128800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr19:44125000-44128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:44125000-44128800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:44125000-44128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:44125000-44128800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:44125000-44129000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:44125000-44129000	Weak transcription	Small Intestine	intestine
36	chr19:44125000-44129200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:44125000-44129200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:44125000-44130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:44125000-44130400	Weak transcription	Gastric	stomach
40	chr19:44125000-44130400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:44125000-44130800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr19:44125000-44131000	Weak transcription	Fetal Muscle Leg	muscle
43	chr19:44125000-44139200	Weak transcription	Pancreas	Pancrea
44	chr19:44125200-44127400	Weak transcription	Brain Angular Gyrus	brain
45	chr19:44125200-44128400	Weak transcription	NHEK	skin
46	chr19:44125200-44128600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr19:44125200-44128600	Weak transcription	Fetal Thymus	thymus
48	chr19:44125200-44128800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr19:44125200-44128800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:44125200-44128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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