Variant report

Variant	rs28544530
Chromosome Location	chr8:10669109-10669110
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	chr8:10654838..10657527-chr8:10667570..10669417,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10089548	0.89[ASN][1000 genomes]
rs10503411	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11774457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776965	0.94[ASN][1000 genomes]
rs11779094	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779336	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782490	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783803	0.81[EUR][1000 genomes]
rs13265197	1.00[ASN][1000 genomes]
rs13269447	1.00[ASN][1000 genomes]
rs17152410	0.81[EUR][1000 genomes]
rs17152412	0.89[AMR][1000 genomes]
rs17152542	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152623	0.89[ASN][1000 genomes]
rs2409660	0.89[ASN][1000 genomes]
rs28675255	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706358	0.89[ASN][1000 genomes]
rs2898245	1.00[ASN][1000 genomes]
rs3808604	0.89[ASN][1000 genomes]
rs4840515	0.89[ASN][1000 genomes]
rs4840518	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4841447	1.00[ASN][1000 genomes]
rs4841448	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841449	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841453	1.00[ASN][1000 genomes]
rs4841455	0.89[ASN][1000 genomes]
rs57689233	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57868806	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6983956	0.89[ASN][1000 genomes]
rs7008259	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7012879	0.84[ASN][1000 genomes]
rs73531553	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73531554	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73533521	0.89[ASN][1000 genomes]
rs73533523	0.89[ASN][1000 genomes]
rs73542533	0.83[AMR][1000 genomes]
rs7813875	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:10640200-10669800	Weak transcription	Aorta	Aorta
3	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
5	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:10647800-10669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:10648200-10669800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10650600-10671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:10650800-10669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:10657200-10670000	Weak transcription	Lung	lung
14	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
16	chr8:10657600-10670000	Weak transcription	Gastric	stomach
17	chr8:10657600-10674200	Weak transcription	Pancreas	Pancrea
18	chr8:10657600-10674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:10657600-10674600	Weak transcription	Esophagus	oesophagus
20	chr8:10657600-10674600	Weak transcription	Left Ventricle	heart
21	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:10657800-10673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:10657800-10673200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:10657800-10674400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:10657800-10674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
28	chr8:10658000-10669400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:10658000-10669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:10658400-10673000	Weak transcription	Liver	Liver
31	chr8:10658400-10676000	Weak transcription	HepG2	liver
32	chr8:10658600-10673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:10659400-10673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:10659400-10676000	Weak transcription	NHLF	lung
36	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:10659800-10669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:10660200-10669600	Weak transcription	K562	blood
40	chr8:10660200-10673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:10660400-10670600	Weak transcription	Osteobl	bone
42	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
43	chr8:10662000-10673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:10662200-10671400	Weak transcription	Brain Substantia Nigra	brain
45	chr8:10662600-10674400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:10662600-10676000	Weak transcription	Brain Germinal Matrix	brain
47	chr8:10662800-10674400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:10663000-10681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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