Variant report

Variant	rs73524684
Chromosome Location	chr19:19443323-19443324
allele	C/T
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:7)
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	chr19:19442982-19443544	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:19443160-19443460	K562	blood:	n/a	n/a
3	POLR2A	chr19:19442996-19443701	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19429984..19431670-chr19:19442393..19444716,2	K562	blood:
2	chr19:19431090..19433292-chr19:19443001..19445440,2	MCF-7	breast:
3	chr19:19439707..19441657-chr19:19442006..19443509,2	MCF-7	breast:
4	chr19:19442399..19445036-chr19:19445555..19448100,3	MCF-7	breast:
5	chr19:19442099..19443942-chr19:19466975..19468956,2	K562	blood:
6	chr19:19441999..19444885-chr19:19445374..19448032,2	K562	blood:
7	chr19:19437187..19438815-chr19:19442860..19444792,2	K562	blood:

No data

Variant related genes	Relation type
MAU2	TF binding region
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	1.00[AMR][1000 genomes]
rs58210809	1.00[AMR][1000 genomes]
rs59432787	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542032	1.00[AMR][1000 genomes]
rs60635681	1.00[AMR][1000 genomes]
rs61418834	1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73528412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	1.00[AMR][1000 genomes]
rs73530433	1.00[AMR][1000 genomes]
rs73532115	1.00[AMR][1000 genomes]
rs73532138	1.00[AMR][1000 genomes]
rs73532145	1.00[AMR][1000 genomes]
rs73532149	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	1.00[AMR][1000 genomes]
rs73532158	1.00[AMR][1000 genomes]
rs73539469	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19432600-19445400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19432800-19445400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:19432800-19447400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:19433200-19452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:19433400-19469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:19433400-19470600	Strong transcription	Fetal Stomach	stomach
7	chr19:19433600-19448800	Weak transcription	Stomach Mucosa	stomach
8	chr19:19433800-19468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:19433800-19469800	Strong transcription	Fetal Intestine Large	intestine
10	chr19:19433800-19470400	Strong transcription	Placenta	Placenta
11	chr19:19434000-19445600	Strong transcription	Fetal Intestine Small	intestine
12	chr19:19434200-19469000	Strong transcription	Fetal Thymus	thymus
13	chr19:19434200-19469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:19434200-19469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:19434400-19443600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:19434400-19449800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:19434400-19450600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:19434600-19445400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:19434600-19448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:19434600-19466000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:19434800-19448000	Weak transcription	Psoas Muscle	Psoas
22	chr19:19434800-19470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:19435000-19471000	Strong transcription	Fetal Brain Female	brain
24	chr19:19435200-19448200	Strong transcription	Osteobl	bone
25	chr19:19435200-19449200	Weak transcription	Fetal Brain Male	brain
26	chr19:19435400-19444200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:19435400-19444400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:19435400-19453400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:19435600-19444000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:19435600-19455400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:19435600-19468600	Strong transcription	Dnd41	blood
32	chr19:19435600-19470400	Strong transcription	Brain Germinal Matrix	brain
33	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
34	chr19:19436000-19444200	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:19436000-19447400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr19:19436000-19460600	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:19436800-19445200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:19436800-19455600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr19:19437000-19449000	Weak transcription	Fetal Kidney	kidney
40	chr19:19437200-19444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:19438200-19444600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:19438200-19444800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:19438200-19448600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:19438200-19450000	Strong transcription	Primary T cells from cord blood	blood
45	chr19:19438200-19469600	Strong transcription	Thymus	Thymus
46	chr19:19438400-19450000	Strong transcription	Brain Anterior Caudate	brain
47	chr19:19438400-19450600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:19438600-19450000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr19:19438600-19460800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:19438800-19468800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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