Variant report

Variant	rs33982830
Chromosome Location	chr19:19737686-19737687
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19730445..19732435-chr19:19735094..19738509,3	K562	blood:
2	chr19:19736867..19738953-chr19:19762486..19765452,2	K562	blood:
3	chr19:19622555..19628571-chr19:19737113..19740295,6	MCF-7	breast:
4	chr19:19728345..19731839-chr19:19736250..19740547,12	MCF-7	breast:
5	chr19:19699149..19708161-chr19:19735507..19742255,11	MCF-7	breast:
6	chr19:19215004..19217931-chr19:19737020..19738746,2	K562	blood:
7	chr19:19716730..19718451-chr19:19737365..19740401,3	MCF-7	breast:
8	chr19:19717080..19720260-chr19:19736721..19739619,3	MCF-7	breast:
9	chr19:19689040..19691188-chr19:19737339..19740827,3	MCF-7	breast:
10	chr19:19641380..19649124-chr19:19737025..19742358,12	MCF-7	breast:
11	chr19:19672101..19675728-chr19:19736936..19740582,5	MCF-7	breast:
12	chr19:19736821..19742043-chr19:19751528..19755876,8	MCF-7	breast:
13	chr19:19737308..19740984-chr19:19746364..19748680,3	MCF-7	breast:
14	chr19:19728765..19732435-chr19:19733111..19738509,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105717	Chromatin interaction
ENSG00000259242	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000267178	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000089639	Chromatin interaction

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

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

rs_ID	r²[population]
rs12611058	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12974028	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12977917	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12981270	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12982628	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12985142	0.88[EUR][1000 genomes]
rs1476459	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34096655	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34316070	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34316527	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34324119	0.90[EUR][1000 genomes]
rs34424437	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35209041	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35437712	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35553578	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35842591	0.94[EUR][1000 genomes]
rs56083851	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62134460	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137783	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62137816	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62137820	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62137822	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73004920	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs750216	0.84[AFR][1000 genomes];0.90[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19729800-19738600	Weak transcription	Right Atrium	heart
2	chr19:19729800-19744400	Weak transcription	HSMMtube	muscle
3	chr19:19730000-19738000	Weak transcription	Adipose Nuclei	Adipose
4	chr19:19730000-19738000	Weak transcription	NHEK	skin
5	chr19:19730000-19738200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:19730200-19738000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:19730200-19738200	Weak transcription	Brain Anterior Caudate	brain
8	chr19:19730200-19738200	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:19730200-19740200	Weak transcription	Dnd41	blood
10	chr19:19730400-19737800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:19730400-19737800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr19:19730400-19738200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:19730600-19737800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:19730600-19738400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:19731800-19738200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:19733200-19738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:19733400-19737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:19735000-19740200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19735000-19753200	Weak transcription	K562	blood
20	chr19:19735200-19738400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:19735400-19738000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:19735400-19738000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:19735400-19738400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:19735600-19737800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:19735600-19738000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr19:19735600-19738200	Weak transcription	Fetal Intestine Small	intestine
27	chr19:19735600-19738400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr19:19735600-19738400	Weak transcription	Ovary	ovary
29	chr19:19735600-19738400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr19:19735600-19740200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:19736000-19737800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:19736600-19738000	Enhancers	Fetal Brain Male	brain
33	chr19:19736800-19738000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr19:19736800-19738000	Genic enhancers	Thymus	Thymus
35	chr19:19736800-19738600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:19737000-19737800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:19737000-19737800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:19737000-19737800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr19:19737000-19737800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr19:19737000-19737800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:19737000-19737800	Enhancers	GM12878-XiMat	blood
42	chr19:19737000-19738000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:19737000-19738000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:19737000-19738000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:19737000-19738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:19737000-19738000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:19737000-19738000	Enhancers	Fetal Thymus	thymus
48	chr19:19737000-19738200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:19737000-19738200	Enhancers	Primary hematopoietic stem cells	blood
50	chr19:19737000-19738200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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