Variant report

Variant	rs73930206
Chromosome Location	chr19:39321899-39321900
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
2	chr19:39225035..39229236-chr19:39320225..39324035,5	K562	blood:
3	chr19:39224613..39228237-chr19:39319464..39324480,6	MCF-7	breast:
4	chr19:39137520..39139996-chr19:39320132..39324117,5	MCF-7	breast:
5	chr19:39320984..39323718-chr19:39390338..39392657,3	K562	blood:
6	chr19:39302343..39304498-chr19:39319820..39321966,2	MCF-7	breast:
7	chr19:39321462..39323411-chr19:39359373..39361824,2	MCF-7	breast:
8	chr19:39292786..39294819-chr19:39320796..39322447,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171747	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000187994	Chromatin interaction
ENSG00000269050	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000182472	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10413482	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10417798	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10853721	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12052164	0.97[ASN][1000 genomes]
rs4499346	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4801905	0.96[EUR][1000 genomes]
rs4801906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55797435	0.89[EUR][1000 genomes]
rs56359606	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57195546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089213	0.84[AFR][1000 genomes]
rs59983525	0.97[ASN][1000 genomes]
rs60637521	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61148075	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61747761	0.90[EUR][1000 genomes]
rs73930204	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73930207	0.84[AFR][1000 genomes]
rs73933062	0.87[EUR][1000 genomes]
rs73933063	0.84[AFR][1000 genomes]
rs73933065	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8111670	0.86[EUR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39320200-39322400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr19:39320400-39322200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:39320600-39322000	Flanking Active TSS	Hela-S3	cervix
4	chr19:39320800-39322000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:39320800-39322000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:39320800-39322200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:39321000-39322400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr19:39321200-39322000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:39321200-39322200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr19:39321400-39322000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:39321400-39322000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:39321400-39322000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
13	chr19:39321400-39322000	Flanking Active TSS	HepG2	liver
14	chr19:39321400-39322200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr19:39321400-39322200	Flanking Active TSS	Fetal Heart	heart
16	chr19:39321400-39322200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr19:39321400-39322200	Flanking Active TSS	Dnd41	blood
18	chr19:39321400-39322400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:39321400-39322400	Flanking Active TSS	Placenta	Placenta
20	chr19:39321400-39322400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr19:39321400-39322800	Active TSS	Brain Anterior Caudate	brain
22	chr19:39321400-39323000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:39321400-39323000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr19:39321400-39323000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr19:39321600-39322000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:39321600-39322000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:39321600-39322000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr19:39321600-39322000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:39321600-39322000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr19:39321600-39322000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr19:39321600-39322000	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr19:39321600-39322000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr19:39321600-39322000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr19:39321600-39322000	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr19:39321600-39322000	Flanking Active TSS	Pancreas	Pancrea
36	chr19:39321600-39322000	Flanking Active TSS	Psoas Muscle	Psoas
37	chr19:39321600-39322000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:39321600-39322000	Flanking Active TSS	Thymus	Thymus
39	chr19:39321600-39322000	Flanking Active TSS	GM12878-XiMat	blood
40	chr19:39321600-39322000	Flanking Active TSS	K562	blood
41	chr19:39321600-39322200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:39321600-39322200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:39321600-39322200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:39321600-39322200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:39321600-39322200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:39321600-39322200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr19:39321600-39322200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr19:39321600-39322200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr19:39321600-39322200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:39321600-39322200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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