Variant report

Variant	rs10104948
Chromosome Location	chr8:120958767-120958768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120954144..120956394-chr8:120958181..120960542,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10092895	0.83[EUR][1000 genomes]
rs10955945	0.80[ASN][1000 genomes]
rs12541789	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554376	0.88[ASN][1000 genomes]
rs28650977	0.86[EUR][1000 genomes]
rs35853291	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3930200	0.80[ASN][1000 genomes]
rs4871028	0.80[ASN][1000 genomes]
rs4871814	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871815	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871816	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67498247	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825920	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987101	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9987104	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9987111	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh 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
6	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
3	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:120944000-120959200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
6	chr8:120947000-120959400	Weak transcription	Left Ventricle	heart
7	chr8:120947400-120963200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:120947400-120964400	Weak transcription	Adipose Nuclei	Adipose
9	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
10	chr8:120947600-120959400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:120947600-120960000	Weak transcription	Liver	Liver
12	chr8:120947600-120960200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:120948800-120959000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:120948800-120959000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:120951000-120959400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:120951600-120963400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:120952800-120959600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:120954000-120960400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:120954200-120968000	Weak transcription	Stomach Mucosa	stomach
20	chr8:120954600-120959400	Weak transcription	Fetal Lung	lung
21	chr8:120954600-120970400	Weak transcription	Fetal Stomach	stomach
22	chr8:120954800-120964400	Weak transcription	Right Atrium	heart
23	chr8:120955400-120963600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:120955600-120963600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:120955800-120959200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:120955800-120959600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:120956000-120959200	Weak transcription	Ovary	ovary
28	chr8:120956000-120960000	Weak transcription	Fetal Intestine Large	intestine
29	chr8:120956400-120960600	Enhancers	Brain Angular Gyrus	brain
30	chr8:120956400-120960600	Enhancers	Brain Hippocampus Middle	brain
31	chr8:120956600-120960000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:120956600-120963000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:120958200-120959000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:120958200-120959200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:120958200-120959200	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:120958200-120959400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:120958200-120959800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:120958200-120960000	Weak transcription	Gastric	stomach
39	chr8:120958400-120958800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:120958400-120959600	Weak transcription	Brain Anterior Caudate	brain
41	chr8:120958400-120960400	Enhancers	Brain Substantia Nigra	brain

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