Variant report

Variant	rs73532115
Chromosome Location	chr19:19585912-19585913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19585265..19586941-chr19:19595062..19597219,2	K562	blood:
2	chr19:19584133..19587197-chr19:19592002..19595372,3	K562	blood:
3	chr19:19577936..19580342-chr19:19585609..19587741,3	MCF-7	breast:
4	chr19:19584315..19588308-chr19:19588802..19591974,4	K562	blood:
5	chr19:19580831..19583054-chr19:19584529..19587065,3	K562	blood:
6	chr19:19581501..19584310-chr19:19584529..19586340,3	K562	blood:
7	chr19:19585281..19589285-chr19:19590381..19594944,7	K562	blood:
8	chr19:19496791..19501491-chr19:19584169..19587621,5	MCF-7	breast:
9	chr19:19574214..19577811-chr19:19584018..19587977,5	MCF-7	breast:
10	chr19:19579004..19580878-chr19:19585404..19588085,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432787	1.00[AMR][1000 genomes]
rs60542032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61418834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	1.00[AMR][1000 genomes]
rs73528412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530433	1.00[AMR][1000 genomes]
rs73532138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537224	0.93[AFR][1000 genomes]
rs73537243	0.85[AFR][1000 genomes]
rs73539469	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19577800-19598000	Weak transcription	Ovary	ovary
2	chr19:19579200-19586000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:19579200-19598000	Weak transcription	Small Intestine	intestine
4	chr19:19579400-19599400	Weak transcription	Brain Angular Gyrus	brain
5	chr19:19579800-19587400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:19579800-19591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:19579800-19593400	Weak transcription	Fetal Kidney	kidney
8	chr19:19579800-19595600	Weak transcription	Osteobl	bone
9	chr19:19579800-19595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:19579800-19595800	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:19579800-19595800	Weak transcription	HUVEC	blood vessel
12	chr19:19579800-19598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:19579800-19599200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:19579800-19599800	Weak transcription	Brain Substantia Nigra	brain
15	chr19:19580600-19595200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:19580600-19597200	Weak transcription	Brain Anterior Caudate	brain
17	chr19:19580800-19593600	Strong transcription	Fetal Intestine Small	intestine
18	chr19:19581400-19589000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:19581600-19587800	Strong transcription	NHEK	skin
20	chr19:19581600-19595200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:19581800-19587000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:19582200-19597600	Strong transcription	Dnd41	blood
23	chr19:19582600-19586800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:19583200-19586400	Weak transcription	Stomach Mucosa	stomach
25	chr19:19583200-19587400	Strong transcription	Primary B cells from cord blood	blood
26	chr19:19583400-19586000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr19:19583400-19586200	Strong transcription	Gastric	stomach
28	chr19:19583400-19587600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr19:19583400-19588000	Genic enhancers	Spleen	Spleen
30	chr19:19583400-19588400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:19583400-19588800	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr19:19583600-19586000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr19:19583600-19586000	Genic enhancers	HSMM	muscle
34	chr19:19583600-19586200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:19583600-19586200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr19:19583600-19586400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr19:19583600-19587000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr19:19583600-19587200	Strong transcription	Liver	Liver
39	chr19:19583600-19588000	Genic enhancers	K562	blood
40	chr19:19583600-19588200	Strong transcription	Fetal Intestine Large	intestine
41	chr19:19583600-19588600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:19583600-19588800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr19:19583600-19589200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:19583600-19593200	Weak transcription	Fetal Lung	lung
45	chr19:19583800-19586000	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr19:19583800-19586000	Enhancers	HSMMtube	muscle
47	chr19:19583800-19586200	Genic enhancers	GM12878-XiMat	blood
48	chr19:19583800-19587000	Genic enhancers	Left Ventricle	heart
49	chr19:19583800-19587400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr19:19583800-19587600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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