Variant report

Variant	rs73933065
Chromosome Location	chr19:39307893-39307894
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	chr19:39307883-39307944	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:39302937-39309181	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:39302778-39313143	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39305126..39308258-chr19:39321941..39324366,4	K562	blood:
2	chr19:39306785..39309520-chr19:39336164..39339038,3	K562	blood:
3	chr19:39306612..39310061-chr19:39334754..39339038,4	K562	blood:
4	chr19:39305724..39308620-chr19:39308879..39311363,2	K562	blood:
5	chr19:39082076..39084769-chr19:39307819..39309759,2	K562	blood:
6	chr19:39305724..39308270-chr19:39309702..39311363,2	K562	blood:

No data

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000268756	TF binding region
LGALS4	TF binding region
ENSG00000104823	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000268756	Chromatin interaction
ENSG00000269688	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10413482	0.83[EUR][1000 genomes]
rs10417798	0.80[EUR][1000 genomes]
rs10853721	0.83[EUR][1000 genomes]
rs12052164	0.80[ASN][1000 genomes]
rs2052569	0.98[ASN][1000 genomes]
rs4499346	0.83[EUR][1000 genomes]
rs4801905	0.86[EUR][1000 genomes]
rs4801906	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56359606	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57195546	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58750431	0.98[ASN][1000 genomes]
rs59983525	0.80[ASN][1000 genomes]
rs60637521	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61148075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61661045	0.98[ASN][1000 genomes]
rs73930204	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73930206	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73933062	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39284000-39318200	Weak transcription	Fetal Kidney	kidney
2	chr19:39285200-39309400	Weak transcription	Fetal Heart	heart
3	chr19:39290800-39310600	Weak transcription	HMEC	breast
4	chr19:39294600-39309800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:39294800-39309800	Weak transcription	Psoas Muscle	Psoas
6	chr19:39296200-39318200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:39296400-39308600	Weak transcription	K562	blood
8	chr19:39296400-39318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:39296400-39318200	Weak transcription	NHEK	skin
10	chr19:39301400-39320200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:39304000-39317600	Weak transcription	HSMMtube	muscle
12	chr19:39304200-39312800	Genic enhancers	Fetal Intestine Small	intestine
13	chr19:39304400-39316800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:39304400-39321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:39304600-39318200	Weak transcription	Osteobl	bone
16	chr19:39304800-39320800	Weak transcription	HSMM	muscle
17	chr19:39305000-39310000	Strong transcription	Fetal Muscle Leg	muscle
18	chr19:39305000-39315000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:39305200-39309000	Strong transcription	Placenta	Placenta
20	chr19:39305200-39311400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr19:39305200-39316000	Strong transcription	Primary T cells from cord blood	blood
22	chr19:39305200-39321600	Strong transcription	Fetal Stomach	stomach
23	chr19:39305400-39309800	Strong transcription	Liver	Liver
24	chr19:39305400-39315800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:39305400-39321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:39305600-39308200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:39305600-39308400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:39305600-39308800	Strong transcription	Brain Substantia Nigra	brain
29	chr19:39305600-39308800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:39305600-39308800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr19:39305600-39309000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:39305600-39309000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:39305600-39309000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:39305600-39309000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:39305600-39309000	Strong transcription	Brain Angular Gyrus	brain
36	chr19:39305600-39309000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:39305600-39309000	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr19:39305600-39309000	Strong transcription	Gastric	stomach
39	chr19:39305600-39309000	Strong transcription	Ovary	ovary
40	chr19:39305600-39309000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr19:39305600-39309400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:39305600-39309800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:39305600-39309800	Strong transcription	Spleen	Spleen
44	chr19:39305600-39310200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr19:39305600-39310400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:39305600-39312200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:39305600-39314000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:39305600-39314000	Strong transcription	Esophagus	oesophagus
49	chr19:39305600-39314000	Strong transcription	Lung	lung
50	chr19:39305600-39314400	Strong transcription	Thymus	Thymus

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