Variant report

Variant	rs10417312
Chromosome Location	chr19:19484180-19484181
allele	A/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	chr19:19483132..19485532-chr19:19492429..19494779,2	K562	blood:
2	chr19:19482280..19485550-chr19:19495820..19498182,3	K562	blood:
3	chr19:19483917..19485446-chr19:19554236..19556053,2	K562	blood:
4	chr19:19484050..19485886-chr19:19494826..19498217,3	K562	blood:
5	chr19:19482436..19485399-chr19:19514974..19516831,2	K562	blood:
6	chr19:19476462..19478976-chr19:19482373..19484505,3	K562	blood:
7	chr19:19484073..19490340-chr19:19494015..19501154,14	MCF-7	breast:
8	chr19:19483095..19487397-chr19:19491404..19494790,5	K562	blood:
9	chr19:19472366..19475200-chr19:19483991..19486189,2	K562	blood:
10	chr19:19483123..19485621-chr19:19515015..19517445,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10402799	0.89[AMR][1000 genomes]
rs10406347	1.00[EUR][1000 genomes]
rs10408216	0.89[AMR][1000 genomes]
rs10413309	0.89[AMR][1000 genomes]
rs10417715	0.89[AMR][1000 genomes]
rs10422522	0.89[AMR][1000 genomes]
rs10423747	0.89[AMR][1000 genomes]
rs10426537	1.00[EUR][1000 genomes]
rs13344556	1.00[EUR][1000 genomes]
rs16996008	1.00[EUR][1000 genomes]
rs16996042	0.89[AMR][1000 genomes]
rs1859056	1.00[EUR][1000 genomes]
rs2106699	0.89[AMR][1000 genomes]
rs2315280	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28475118	1.00[EUR][1000 genomes]
rs4353576	1.00[EUR][1000 genomes]
rs56304704	0.89[AMR][1000 genomes]
rs56317107	0.89[AMR][1000 genomes]
rs60860168	0.89[AMR][1000 genomes]
rs7248765	0.89[AMR][1000 genomes]
rs7249940	0.89[AMR][1000 genomes]
rs7250310	1.00[EUR][1000 genomes]
rs73922864	0.89[AMR][1000 genomes]
rs73922870	0.89[AMR][1000 genomes]
rs8100866	1.00[EUR][1000 genomes]
rs8110508	0.83[AFR][1000 genomes];0.89[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	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19469800-19488400	Weak transcription	Gastric	stomach
2	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
3	chr19:19476200-19488200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:19476200-19488400	Weak transcription	Right Atrium	heart
5	chr19:19477800-19488400	Weak transcription	Fetal Muscle Leg	muscle
6	chr19:19477800-19488600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:19477800-19488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19478000-19488000	Weak transcription	Pancreas	Pancrea
9	chr19:19478000-19488200	Weak transcription	Spleen	Spleen
10	chr19:19478000-19488600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr19:19478800-19495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19481400-19484600	Enhancers	Placenta	Placenta
13	chr19:19481800-19484800	Enhancers	Lung	lung
14	chr19:19482200-19485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:19482200-19485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:19482200-19485800	Weak transcription	NHEK	skin
17	chr19:19482200-19488200	Weak transcription	Right Ventricle	heart
18	chr19:19482200-19488200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:19482200-19488400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:19482400-19486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:19482400-19488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:19482600-19493200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:19482800-19484600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr19:19483000-19484600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:19483000-19484800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19483200-19484400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr19:19483400-19484200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr19:19483400-19484200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:19483400-19484200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr19:19483400-19484200	Enhancers	Fetal Intestine Small	intestine
31	chr19:19483400-19484200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr19:19483400-19484200	Flanking Active TSS	K562	blood
33	chr19:19483400-19484400	Enhancers	Primary T cells from cord blood	blood
34	chr19:19483400-19484400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:19483400-19484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:19483400-19484600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:19483400-19484600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr19:19483600-19484200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr19:19483600-19484200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:19483600-19484200	Enhancers	A549	lung
41	chr19:19483600-19484200	Enhancers	Dnd41	blood
42	chr19:19483600-19484200	Flanking Active TSS	Hela-S3	cervix
43	chr19:19483600-19484200	Flanking Active TSS	HepG2	liver
44	chr19:19483600-19484400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:19483600-19484400	Enhancers	Fetal Thymus	thymus
46	chr19:19483600-19484400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:19483600-19484600	Enhancers	Colonic Mucosa	Colon
48	chr19:19483800-19484200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr19:19483800-19484200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr19:19483800-19484200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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