Variant report

Variant	rs57854118
Chromosome Location	chr8:121596383-121596384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10089944	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10104248	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10104255	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10108821	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10109195	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10113166	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28415690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561998	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716772	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329308	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4338145	0.87[EUR][1000 genomes]
rs4409430	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4448320	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4514023	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4514024	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4515596	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4521809	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4556123	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871072	0.82[AMR][1000 genomes]
rs55646138	0.86[EUR][1000 genomes]
rs55704534	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57500848	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57589495	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57622256	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57931690	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58181006	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58342310	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58929354	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59896584	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60307797	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61312574	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999024	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010052	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017780	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72680550	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680551	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680552	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680553	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680554	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680556	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680558	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680559	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680560	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680561	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680564	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680565	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680599	0.81[EUR][1000 genomes]
rs73705090	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73707305	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73708912	0.82[EUR][1000 genomes]
rs7812594	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824154	0.83[EUR][1000 genomes]
rs7824846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826902	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827232	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827807	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828280	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7835353	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7845125	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845469	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121557800-121597400	Weak transcription	Osteobl	bone
2	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
4	chr8:121575600-121597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:121583200-121597400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:121583200-121598200	Weak transcription	Spleen	Spleen
7	chr8:121585000-121601600	Weak transcription	Fetal Lung	lung
8	chr8:121586800-121597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:121587200-121596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:121587200-121597000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:121587200-121597600	Weak transcription	Fetal Intestine Large	intestine
12	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:121587400-121596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:121587400-121596800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:121587400-121597000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:121587400-121597000	Weak transcription	HSMMtube	muscle
17	chr8:121587400-121597200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:121587400-121597200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:121587400-121597600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:121587400-121600400	Weak transcription	Fetal Kidney	kidney
21	chr8:121587600-121596800	Weak transcription	NHLF	lung
22	chr8:121587600-121597000	Weak transcription	Gastric	stomach
23	chr8:121587600-121597000	Weak transcription	Lung	lung
24	chr8:121587600-121600000	Weak transcription	Aorta	Aorta
25	chr8:121587800-121596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:121587800-121596800	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:121587800-121597000	Weak transcription	Adipose Nuclei	Adipose
28	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
29	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:121588200-121596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:121588400-121596800	Weak transcription	NHDF-Ad	bronchial
34	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:121588600-121597000	Weak transcription	HSMM	muscle
36	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
37	chr8:121589200-121596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:121589400-121597600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:121589600-121598000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:121589600-121602200	Weak transcription	Primary T cells from cord blood	blood
41	chr8:121591000-121596800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:121591800-121596800	Weak transcription	Psoas Muscle	Psoas
43	chr8:121592200-121596800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:121592600-121596800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:121592600-121597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:121592600-121597000	Weak transcription	Right Atrium	heart
47	chr8:121592600-121600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:121593000-121598000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:121593200-121597000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:121593200-121597200	Weak transcription	Liver	Liver

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