Variant report

Variant	rs11196819
Chromosome Location	chr10:116393326-116393327
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116391283..116394049-chr10:116397576..116399844,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10885589	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1109267	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11196807	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11196828	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11599283	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12220330	0.87[AMR][1000 genomes]
rs12776647	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17719089	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752043	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7904491	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116391400-116395800	Weak transcription	Spleen	Spleen
2	chr10:116391800-116395200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr10:116392000-116393600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:116392000-116393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:116392000-116393600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr10:116392000-116393600	Flanking Active TSS	NH-A	brain
7	chr10:116392000-116393800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:116392000-116393800	Flanking Active TSS	A549	lung
9	chr10:116392000-116393800	Flanking Active TSS	HSMM	muscle
10	chr10:116392000-116395000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:116392200-116393400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:116392200-116393400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:116392200-116393600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:116392200-116393600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:116392200-116393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:116392200-116393800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:116392200-116393800	Bivalent Enhancer	Fetal Stomach	stomach
18	chr10:116392200-116393800	Flanking Active TSS	NHLF	lung
19	chr10:116392200-116395000	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:116392200-116395400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:116392200-116395400	Enhancers	HMEC	breast
22	chr10:116392200-116395400	Enhancers	NHEK	skin
23	chr10:116392200-116395800	Enhancers	Placenta	Placenta
24	chr10:116392400-116393400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:116392400-116393400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:116392400-116393400	Enhancers	Aorta	Aorta
27	chr10:116392400-116393400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr10:116392400-116393400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr10:116392400-116393400	Bivalent Enhancer	Colon Smooth Muscle	Colon
30	chr10:116392400-116393400	Enhancers	Pancreas	Pancrea
31	chr10:116392400-116393400	Enhancers	Psoas Muscle	Psoas
32	chr10:116392400-116393400	Bivalent Enhancer	GM12878-XiMat	blood
33	chr10:116392400-116393600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr10:116392400-116393600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr10:116392400-116393600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr10:116392400-116393600	Enhancers	Lung	lung
37	chr10:116392400-116393600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr10:116392400-116393600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr10:116392400-116393800	Enhancers	Ovary	ovary
40	chr10:116392400-116393800	Flanking Active TSS	HSMMtube	muscle
41	chr10:116392400-116394600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:116392400-116395200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:116392400-116395200	Enhancers	HUVEC	blood vessel
44	chr10:116392400-116395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:116392400-116395400	Enhancers	Fetal Lung	lung
46	chr10:116392400-116395600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:116392400-116396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr10:116392600-116393600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:116392600-116393600	Flanking Active TSS	Hela-S3	cervix
50	chr10:116392600-116393800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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