Variant report

Variant	rs10422522
Chromosome Location	chr19:19498501-19498502
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19495178..19498166-chr19:19498420..19501797,5	MCF-7	breast:
2	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
3	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
4	chr19:19476417..19478794-chr19:19498125..19500397,2	K562	blood:
5	chr19:19497521..19500034-chr19:19556713..19558858,2	K562	blood:
6	chr19:19489733..19491954-chr19:19497664..19499602,2	K562	blood:
7	chr19:19494245..19498286-chr19:19498313..19501756,5	MCF-7	breast:
8	chr19:19497354..19499230-chr19:19547808..19549334,2	K562	blood:
9	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267234	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10402799	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10403737	0.82[AFR][1000 genomes]
rs10408216	1.00[AMR][1000 genomes]
rs10413309	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413582	0.82[AFR][1000 genomes]
rs10417312	0.89[AMR][1000 genomes]
rs10417715	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423747	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12327663	0.81[AFR][1000 genomes]
rs16996031	0.81[AFR][1000 genomes]
rs16996042	1.00[AMR][1000 genomes]
rs2106699	1.00[AMR][1000 genomes]
rs2315280	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317107	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60860168	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922864	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922870	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8110508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9304961	0.82[AFR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497200-19498600	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr19:19497200-19498800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:19497200-19498800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:19497400-19499400	Flanking Active TSS	Dnd41	blood
5	chr19:19497600-19498600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:19497600-19499400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr19:19497600-19501000	Weak transcription	Brain Angular Gyrus	brain
8	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:19497800-19498600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:19497800-19499200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:19497800-19499200	Weak transcription	Fetal Kidney	kidney
12	chr19:19497800-19499400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:19497800-19499600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:19497800-19499600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:19497800-19500000	Enhancers	Liver	Liver
16	chr19:19497800-19500400	Enhancers	Small Intestine	intestine
17	chr19:19497800-19501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:19498000-19498600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:19498000-19498600	Active TSS	Rectal Smooth Muscle	rectum
20	chr19:19498000-19498800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:19498000-19498800	Enhancers	Colonic Mucosa	Colon
22	chr19:19498000-19499000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:19498000-19499000	Weak transcription	Aorta	Aorta
24	chr19:19498000-19499000	Enhancers	Right Ventricle	heart
25	chr19:19498000-19499000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:19498000-19499200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:19498000-19499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:19498000-19499200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:19498000-19499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:19498000-19499200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr19:19498000-19499200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:19498000-19499200	Weak transcription	Brain Anterior Caudate	brain
33	chr19:19498000-19499200	Enhancers	Duodenum Mucosa	Duodenum
34	chr19:19498000-19499200	Weak transcription	Esophagus	oesophagus
35	chr19:19498000-19499200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr19:19498000-19499200	Weak transcription	Left Ventricle	heart
37	chr19:19498000-19499200	Weak transcription	HSMMtube	muscle
38	chr19:19498000-19499400	Weak transcription	Fetal Heart	heart
39	chr19:19498000-19499400	Weak transcription	NH-A	brain
40	chr19:19498000-19499600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:19498000-19499600	Enhancers	Primary B cells from cord blood	blood
42	chr19:19498000-19499600	Enhancers	Primary B cells from peripheral blood	blood
43	chr19:19498000-19499600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:19498000-19499600	Enhancers	HMEC	breast
45	chr19:19498000-19499800	Enhancers	Lung	lung
46	chr19:19498000-19500200	Weak transcription	Brain Germinal Matrix	brain
47	chr19:19498000-19500200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr19:19498000-19500200	Enhancers	Stomach Mucosa	stomach
49	chr19:19498000-19500400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr19:19498000-19500400	Enhancers	Fetal Intestine Large	intestine

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