Variant report

Variant	rs737450
Chromosome Location	chr19:39630397-39630398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr19:39629256-39630454	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr19:39629927-39630464	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr19:39629942-39630476	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:39630323-39630749	K562	blood:	n/a	n/a
5	SP1	chr19:39629879-39630408	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr19:39630332-39631882	SK-N-SH	brain:	n/a	n/a
7	EP300	chr19:39629606-39631875	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr19:39629971-39630437	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr19:39629933-39630461	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39628877..39631480-chr19:39652977..39654703,2	K562	blood:
2	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:
3	chr19:39628513..39631605-chr19:39651561..39654703,3	K562	blood:
4	chr19:39622591..39626006-chr19:39627126..39631368,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269172	TF binding region
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1077457	0.91[ASN][1000 genomes]
rs1079442	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083509	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11083510	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12610624	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12611361	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12611365	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12611376	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12984418	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17722300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17795295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082417	0.81[ASN][1000 genomes]
rs2873913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34058542	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34110379	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34270590	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34326918	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34808880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34846983	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35163943	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35591784	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36148214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3889485	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55748546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61171111	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67248178	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71356838	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71356839	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71356840	0.92[EUR][1000 genomes]
rs71356841	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8107629	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39617000-39630800	Weak transcription	Primary T cells from cord blood	blood
2	chr19:39617000-39635000	Weak transcription	Aorta	Aorta
3	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:39617800-39641600	Weak transcription	Thymus	Thymus
5	chr19:39618400-39646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:39622400-39635200	Weak transcription	Fetal Brain Female	brain
7	chr19:39622600-39639600	Weak transcription	HSMM	muscle
8	chr19:39623000-39635200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:39623400-39646000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:39624000-39647000	Weak transcription	NHLF	lung
11	chr19:39624200-39634800	Weak transcription	Fetal Kidney	kidney
12	chr19:39624800-39632600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:39624800-39633000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:39626600-39631000	Enhancers	Spleen	Spleen
15	chr19:39626800-39631200	Enhancers	Brain Substantia Nigra	brain
16	chr19:39627200-39646800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:39627400-39632000	Enhancers	Brain Germinal Matrix	brain
18	chr19:39627600-39630400	Weak transcription	HUVEC	blood vessel
19	chr19:39627600-39634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:39627600-39635000	Weak transcription	NHEK	skin
21	chr19:39627600-39641200	Weak transcription	Hela-S3	cervix
22	chr19:39627600-39645800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr19:39628600-39630600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:39628600-39631000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:39628600-39631800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:39628800-39631000	Enhancers	Stomach Mucosa	stomach
27	chr19:39628800-39631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:39628800-39631200	Enhancers	Brain Hippocampus Middle	brain
29	chr19:39628800-39631600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr19:39628800-39631800	Genic enhancers	A549	lung
31	chr19:39628800-39632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr19:39628800-39633600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:39629000-39630600	Enhancers	Esophagus	oesophagus
34	chr19:39629000-39630800	Enhancers	Pancreas	Pancrea
35	chr19:39629000-39631000	Enhancers	Fetal Brain Male	brain
36	chr19:39629000-39631000	Enhancers	Gastric	stomach
37	chr19:39629000-39631200	Enhancers	Brain Cingulate Gyrus	brain
38	chr19:39629000-39631200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr19:39629000-39631200	Enhancers	Duodenum Mucosa	Duodenum
40	chr19:39629000-39631200	Enhancers	Fetal Lung	lung
41	chr19:39629000-39631200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr19:39629000-39631400	Enhancers	Fetal Muscle Leg	muscle
43	chr19:39629000-39631600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:39629000-39631600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:39629000-39631800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:39629000-39631800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr19:39629000-39631800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr19:39629000-39631800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr19:39629000-39631800	Enhancers	Placenta	Placenta
50	chr19:39629000-39631800	Enhancers	Right Ventricle	heart

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