Variant report

Variant	rs10748704
Chromosome Location	chr10:99328250-99328251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99326572..99328961-chr10:99329833..99332100,2	K562	blood:
2	chr10:99257342..99258988-chr10:99326184..99329415,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155229	Chromatin interaction
ENSG00000165886	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10748702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10748703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748705	1.00[EUR][1000 genomes]
rs10786357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882960	0.83[AFR][1000 genomes]
rs1111831	0.83[AFR][1000 genomes]
rs1417409	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2153546	0.85[EUR][1000 genomes]
rs4244322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244324	0.81[AFR][1000 genomes]
rs4917775	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4919111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4919112	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4919114	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55831446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607476	1.00[ASN][1000 genomes]
rs6584135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6584136	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7077652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081548	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73332755	1.00[ASN][1000 genomes]
rs74155506	1.00[ASN][1000 genomes]
rs7919450	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised 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	66 gene(s)	inside rSNPs	diseases
2	nsv1036494	chr10:99267639-99345207	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv7508	chr10:99285375-99330501	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99311400-99328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:99313800-99329800	Weak transcription	Gastric	stomach
3	chr10:99313800-99330600	Weak transcription	Brain Angular Gyrus	brain
4	chr10:99315000-99329000	Weak transcription	HSMMtube	muscle
5	chr10:99321000-99329000	Weak transcription	NHDF-Ad	bronchial
6	chr10:99321000-99330600	Weak transcription	A549	lung
7	chr10:99321200-99329000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:99321200-99329000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:99321200-99329000	Weak transcription	Osteobl	bone
10	chr10:99321200-99334600	Weak transcription	HepG2	liver
11	chr10:99322000-99333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:99322200-99328400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:99325000-99329000	Weak transcription	NH-A	brain
14	chr10:99325200-99329800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:99325400-99332200	Weak transcription	HUVEC	blood vessel
16	chr10:99325600-99334600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:99325800-99328400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:99325800-99328400	Weak transcription	Brain Substantia Nigra	brain
19	chr10:99326000-99329200	Weak transcription	Fetal Intestine Small	intestine
20	chr10:99326000-99329800	Weak transcription	Esophagus	oesophagus
21	chr10:99326000-99332200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:99326000-99334200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:99326200-99328800	Weak transcription	Fetal Stomach	stomach
24	chr10:99326200-99330600	Weak transcription	Fetal Lung	lung
25	chr10:99326400-99334200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:99326600-99328400	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:99326600-99329000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:99326600-99329200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:99326600-99330600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:99326800-99328800	Weak transcription	HMEC	breast
31	chr10:99326800-99329200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:99326800-99330000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:99327000-99334600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:99327200-99332200	Weak transcription	Right Atrium	heart
35	chr10:99327200-99334600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:99327400-99329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:99327400-99330800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:99327600-99328600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:99327600-99329000	Strong transcription	NHEK	skin
40	chr10:99327600-99330000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:99327600-99330400	Strong transcription	Brain Anterior Caudate	brain
42	chr10:99327600-99330600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:99327600-99330600	Strong transcription	Left Ventricle	heart
44	chr10:99327600-99330800	Strong transcription	NHLF	lung
45	chr10:99327600-99331000	Strong transcription	Pancreas	Pancrea
46	chr10:99327600-99331200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:99327600-99331400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:99327600-99331400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr10:99327600-99331600	Strong transcription	Lung	lung
50	chr10:99327600-99332200	Strong transcription	Spleen	Spleen

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