Variant report

Variant	rs61224035
Chromosome Location	chr8:42890732-42890733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10453137	0.88[AFR][1000 genomes]
rs11987452	0.92[AFR][1000 genomes]
rs11988227	0.84[AFR][1000 genomes]
rs11989623	1.00[AMR][1000 genomes]
rs11990369	0.88[AFR][1000 genomes]
rs11991133	0.88[AFR][1000 genomes]
rs11992397	0.88[AFR][1000 genomes]
rs11992660	0.88[AFR][1000 genomes]
rs11992682	0.88[AFR][1000 genomes]
rs11992987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993667	0.88[AFR][1000 genomes]
rs11993799	1.00[AMR][1000 genomes]
rs11994115	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994318	0.88[AFR][1000 genomes]
rs11995172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995473	0.88[AFR][1000 genomes]
rs11997992	0.81[AFR][1000 genomes]
rs11998092	1.00[AMR][1000 genomes]
rs2194902	0.81[AFR][1000 genomes]
rs28718980	1.00[AMR][1000 genomes]
rs28799623	0.88[AFR][1000 genomes]
rs28840077	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34489103	0.83[AFR][1000 genomes]
rs35506493	1.00[AMR][1000 genomes]
rs57071761	1.00[AMR][1000 genomes]
rs57986156	0.82[AFR][1000 genomes]
rs58081556	0.88[AFR][1000 genomes]
rs59213790	0.92[AFR][1000 genomes]
rs59592639	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60133450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60443202	0.82[AFR][1000 genomes]
rs60782941	0.90[AFR][1000 genomes]
rs61093151	1.00[AMR][1000 genomes]
rs61733908	0.82[AFR][1000 genomes]
rs73627229	0.88[AFR][1000 genomes]
rs73627242	0.88[AFR][1000 genomes]
rs73627249	0.84[AFR][1000 genomes]
rs73627250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627252	0.88[AFR][1000 genomes]
rs73627261	0.81[AFR][1000 genomes]
rs73627273	0.88[AFR][1000 genomes]
rs73627274	0.88[AFR][1000 genomes]
rs73627276	0.88[AFR][1000 genomes]
rs73627278	0.88[AFR][1000 genomes]
rs73627280	0.88[AFR][1000 genomes]
rs73627282	0.88[AFR][1000 genomes]
rs73627288	0.85[AFR][1000 genomes]
rs73627294	0.82[AFR][1000 genomes]
rs73629103	0.88[AFR][1000 genomes]
rs73629108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629110	0.80[AFR][1000 genomes]
rs73629198	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73631561	1.00[AMR][1000 genomes]
rs73631573	1.00[AMR][1000 genomes]
rs73634623	1.00[AMR][1000 genomes]
rs73634627	1.00[AMR][1000 genomes]
rs73634652	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634696	0.82[AFR][1000 genomes]
rs73635313	0.80[AFR][1000 genomes]
rs73635316	0.81[AFR][1000 genomes]
rs73635325	0.80[AFR][1000 genomes]
rs73635345	0.84[AFR][1000 genomes]
rs73635352	0.88[AFR][1000 genomes]
rs73635357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635362	0.88[AFR][1000 genomes]
rs73635364	0.88[AFR][1000 genomes]
rs73635365	0.81[AFR][1000 genomes]
rs73635366	0.88[AFR][1000 genomes]
rs73635368	0.88[AFR][1000 genomes]
rs73635370	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
2	chr8:42868000-42891600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:42870200-42890800	Weak transcription	Fetal Brain Male	brain
4	chr8:42873800-42891000	Weak transcription	NHLF	lung
5	chr8:42873800-42891400	Weak transcription	Esophagus	oesophagus
6	chr8:42873800-42891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:42873800-42892200	Weak transcription	Gastric	stomach
8	chr8:42874200-42891400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:42875000-42891200	Weak transcription	Fetal Kidney	kidney
10	chr8:42875600-42891800	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:42876000-42891000	Weak transcription	NHDF-Ad	bronchial
12	chr8:42876000-42891200	Weak transcription	Psoas Muscle	Psoas
13	chr8:42876000-42892800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:42876200-42891000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:42876200-42891400	Weak transcription	Left Ventricle	heart
16	chr8:42876400-42891400	Weak transcription	HUVEC	blood vessel
17	chr8:42876400-42891600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:42876400-42891800	Weak transcription	NH-A	brain
19	chr8:42876600-42895200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:42879000-42890800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:42879400-42890800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:42880000-42891200	Weak transcription	Brain Substantia Nigra	brain
23	chr8:42880600-42891000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:42882000-42892200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:42889400-42890800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:42889400-42890800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:42889400-42890800	Strong transcription	Brain Germinal Matrix	brain
28	chr8:42889400-42890800	Strong transcription	Fetal Stomach	stomach
29	chr8:42889400-42890800	Strong transcription	Ovary	ovary
30	chr8:42889600-42890800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:42889600-42890800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:42889600-42893200	Weak transcription	Fetal Intestine Large	intestine
33	chr8:42890000-42891200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:42890000-42891600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:42890000-42891800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:42890000-42891800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:42890000-42891800	Weak transcription	Thymus	Thymus
38	chr8:42890000-42892200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:42890000-42893000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:42890200-42890800	Weak transcription	Dnd41	blood
41	chr8:42890200-42891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:42890200-42891200	Weak transcription	Fetal Brain Female	brain
43	chr8:42890200-42891400	Weak transcription	Fetal Lung	lung
44	chr8:42890200-42891400	Weak transcription	Spleen	Spleen
45	chr8:42890200-42891800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:42890200-42891800	Weak transcription	Aorta	Aorta
47	chr8:42890200-42891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:42890200-42891800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:42890200-42891800	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:42890200-42891800	Weak transcription	HSMM	muscle

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