Variant report

Variant	rs17880870
Chromosome Location	chr19:39388993-39388994
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39338733..39343337-chr19:39388774..39392675,12	K562	blood:
2	chr19:39388836..39392687-chr19:39409083..39412619,5	K562	blood:
3	chr19:39388885..39392214-chr19:39419332..39422757,5	MCF-7	breast:
4	chr19:39326299..39328911-chr19:39388226..39390640,3	K562	blood:
5	chr19:39388933..39390518-chr19:39401475..39404370,2	MCF-7	breast:
6	chr19:39383423..39385923-chr19:39387756..39389804,3	K562	blood:
7	chr19:39386472..39392494-chr19:39418718..39424791,9	K562	blood:
8	chr19:39218316..39221729-chr19:39388696..39391433,3	K562	blood:
9	chr19:39372814..39374883-chr19:39387174..39390098,2	K562	blood:
10	chr19:39289769..39291499-chr19:39387301..39389703,2	K562	blood:
11	chr19:39338023..39344706-chr19:39388476..39392998,12	MCF-7	breast:
12	chr19:39338478..39344219-chr19:39387112..39393304,19	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130402	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000262484	Chromatin interaction
ENSG00000128626	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17881574	1.00[AMR][1000 genomes]
rs17883178	1.00[AMR][1000 genomes]
rs56935544	1.00[AMR][1000 genomes]
rs57556122	1.00[AMR][1000 genomes]
rs59087858	1.00[AMR][1000 genomes]
rs73541565	1.00[AMR][1000 genomes]
rs73543539	1.00[AMR][1000 genomes]
rs73930274	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	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	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39369200-39389200	Weak transcription	A549	lung
2	chr19:39371600-39389800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39379800-39389000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:39380000-39389400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:39380000-39389400	Weak transcription	NH-A	brain
6	chr19:39380200-39389000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:39380200-39389000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:39380200-39389000	Weak transcription	HUVEC	blood vessel
9	chr19:39380200-39389000	Weak transcription	Osteobl	bone
10	chr19:39380400-39389000	Weak transcription	Small Intestine	intestine
11	chr19:39380600-39389000	Weak transcription	Colonic Mucosa	Colon
12	chr19:39381200-39389000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:39381400-39389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:39381600-39389000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:39381600-39389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:39381600-39389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:39381800-39389000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:39382000-39389000	Weak transcription	Primary B cells from cord blood	blood
19	chr19:39382000-39389600	Weak transcription	Aorta	Aorta
20	chr19:39382400-39389200	Weak transcription	Primary T cells from cord blood	blood
21	chr19:39384600-39389000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr19:39386200-39389000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:39386200-39389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:39386200-39389000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:39387000-39389200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr19:39387000-39389400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:39387200-39389200	Enhancers	Right Ventricle	heart
28	chr19:39387200-39389400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr19:39387400-39389400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:39387400-39389400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr19:39387400-39389600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:39387600-39389200	Enhancers	Fetal Brain Male	brain
33	chr19:39387600-39389400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr19:39387800-39389000	Weak transcription	Fetal Intestine Small	intestine
35	chr19:39387800-39389200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:39388200-39389000	Enhancers	Duodenum Mucosa	Duodenum
37	chr19:39388200-39389200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr19:39388200-39389400	Enhancers	Fetal Thymus	thymus
39	chr19:39388200-39390000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr19:39388200-39390200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:39388400-39389000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:39388400-39389200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr19:39388400-39389200	Enhancers	HepG2	liver
44	chr19:39388400-39389400	Enhancers	Primary B cells from peripheral blood	blood
45	chr19:39388400-39389400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:39388400-39389400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:39388400-39389600	Enhancers	Spleen	Spleen
48	chr19:39388400-39389600	Flanking Active TSS	HMEC	breast
49	chr19:39388400-39390000	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr19:39388600-39389000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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