Variant report

Variant	rs11814968
Chromosome Location	chr10:116378937-116378938
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11813218	1.00[AMR][1000 genomes]
rs11813881	1.00[AMR][1000 genomes]
rs11814176	1.00[AMR][1000 genomes]
rs11814279	1.00[AMR][1000 genomes]
rs11814885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34937709	1.00[AMR][1000 genomes]
rs35182174	1.00[AMR][1000 genomes]
rs35664557	1.00[AMR][1000 genomes]
rs35952431	1.00[AMR][1000 genomes]
rs56834445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60246497	1.00[AMR][1000 genomes]
rs60906486	1.00[AMR][1000 genomes]
rs61606135	1.00[AMR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116345000-116382400	Weak transcription	HSMM	muscle
2	chr10:116360600-116380600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:116361400-116379000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:116365000-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:116365400-116380600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr10:116365400-116382400	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:116365800-116382000	Weak transcription	Gastric	stomach
8	chr10:116367800-116382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:116370600-116382600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:116371800-116382400	Weak transcription	HMEC	breast
11	chr10:116372000-116382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:116372000-116383600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:116372200-116382200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:116372400-116382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:116372400-116382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:116374400-116382000	Weak transcription	HepG2	liver
17	chr10:116374400-116382400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:116374400-116382400	Weak transcription	Fetal Intestine Small	intestine
19	chr10:116375800-116382600	Weak transcription	Fetal Intestine Large	intestine
20	chr10:116376200-116381400	Weak transcription	Stomach Mucosa	stomach
21	chr10:116376200-116382400	Weak transcription	Lung	lung
22	chr10:116376400-116382400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:116376400-116382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:116376400-116382400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:116376400-116382600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:116376400-116383000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:116376600-116382400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:116378000-116379000	Strong transcription	Liver	Liver
29	chr10:116378200-116379400	Genic enhancers	Pancreas	Pancrea
30	chr10:116378200-116379400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:116378200-116379600	Enhancers	Adipose Nuclei	Adipose
32	chr10:116378200-116379600	Genic enhancers	Left Ventricle	heart
33	chr10:116378200-116379800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:116378200-116385000	Enhancers	Right Atrium	heart
35	chr10:116378400-116379000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:116378400-116379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:116378400-116379400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:116378400-116379600	Enhancers	Aorta	Aorta
39	chr10:116378400-116379600	Enhancers	Fetal Muscle Leg	muscle
40	chr10:116378400-116380000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:116378600-116379400	Enhancers	Fetal Heart	heart
42	chr10:116378600-116382400	Weak transcription	Brain Anterior Caudate	brain
43	chr10:116378800-116379000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:116378800-116381600	Weak transcription	Esophagus	oesophagus
45	chr10:116378800-116381600	Weak transcription	Right Ventricle	heart
46	chr10:116378800-116382600	Weak transcription	HSMMtube	muscle
47	chr10:116378800-116382800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:116378800-116383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:116378800-116391200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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