Variant report

Variant	rs57177520
Chromosome Location	chr1:92791483-92791484
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10399671	0.87[EUR][1000 genomes]
rs12075168	0.87[EUR][1000 genomes]
rs12075243	0.87[EUR][1000 genomes]
rs12098095	0.87[EUR][1000 genomes]
rs17131632	0.87[EUR][1000 genomes]
rs17131636	0.87[EUR][1000 genomes]
rs41286805	1.00[EUR][1000 genomes]
rs41296171	1.00[EUR][1000 genomes]
rs41313389	1.00[EUR][1000 genomes]
rs55993081	0.87[EUR][1000 genomes]
rs56297403	1.00[EUR][1000 genomes]
rs57217458	1.00[EUR][1000 genomes]
rs58142139	1.00[EUR][1000 genomes]
rs59278612	1.00[EUR][1000 genomes]
rs60265386	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60550001	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60755573	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60933677	1.00[EUR][1000 genomes]
rs61141829	1.00[EUR][1000 genomes]
rs61185080	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410146	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660858	1.00[EUR][1000 genomes]
rs6661028	1.00[EUR][1000 genomes]
rs6672838	0.87[EUR][1000 genomes]
rs6679259	0.87[EUR][1000 genomes]
rs6681213	1.00[EUR][1000 genomes]
rs6683456	0.87[EUR][1000 genomes]
rs6685997	0.81[AFR][1000 genomes]
rs6695475	1.00[EUR][1000 genomes]
rs6702975	1.00[EUR][1000 genomes]
rs6704484	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958740	1.00[EUR][1000 genomes]
rs72958746	1.00[EUR][1000 genomes]
rs72958774	1.00[EUR][1000 genomes]
rs72958781	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958796	1.00[EUR][1000 genomes]
rs72960815	1.00[EUR][1000 genomes]
rs72960831	1.00[EUR][1000 genomes]
rs72960835	1.00[EUR][1000 genomes]
rs72960847	1.00[EUR][1000 genomes]
rs72960860	1.00[EUR][1000 genomes]
rs72960870	1.00[EUR][1000 genomes]
rs72960872	0.87[EUR][1000 genomes]
rs72962640	1.00[EUR][1000 genomes]
rs72962659	0.87[EUR][1000 genomes]
rs74101123	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101146	1.00[EUR][1000 genomes]
rs74101152	1.00[EUR][1000 genomes]
rs74101157	1.00[EUR][1000 genomes]
rs74101184	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101186	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101190	0.87[EUR][1000 genomes]
rs74102832	1.00[EUR][1000 genomes]
rs74102844	1.00[EUR][1000 genomes]
rs74102853	1.00[EUR][1000 genomes]
rs74102861	1.00[EUR][1000 genomes]
rs74102906	0.87[EUR][1000 genomes]
rs7513631	1.00[EUR][1000 genomes]
rs7519603	1.00[EUR][1000 genomes]
rs7520555	1.00[EUR][1000 genomes]
rs7520675	0.87[EUR][1000 genomes]
rs7525174	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527960	0.87[EUR][1000 genomes]
rs7529971	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534750	1.00[EUR][1000 genomes]
rs7542362	1.00[EUR][1000 genomes]
rs7542736	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
3	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
4	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:92765600-92791800	Weak transcription	Lung	lung
6	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
7	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
8	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
10	chr1:92765800-92791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:92765800-92791800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:92765800-92791800	Weak transcription	Gastric	stomach
13	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
14	chr1:92766000-92792000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:92766400-92791600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:92771800-92794800	Weak transcription	Brain Angular Gyrus	brain
17	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
18	chr1:92773000-92800800	Weak transcription	NHDF-Ad	bronchial
19	chr1:92773800-92791800	Weak transcription	NHLF	lung
20	chr1:92774000-92791800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:92774200-92791800	Weak transcription	Brain Substantia Nigra	brain
22	chr1:92774200-92791800	Weak transcription	Thymus	Thymus
23	chr1:92778000-92791800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:92778000-92799200	Weak transcription	Hela-S3	cervix
25	chr1:92780600-92791600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:92781800-92792000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:92782200-92803400	Weak transcription	Stomach Mucosa	stomach
28	chr1:92784400-92808200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:92784600-92791600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:92785000-92792000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:92785200-92793400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:92786200-92791800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:92788200-92791600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:92788400-92791800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:92788400-92791800	Weak transcription	Fetal Stomach	stomach
36	chr1:92788800-92791600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:92788800-92791600	Strong transcription	Adipose Nuclei	Adipose
38	chr1:92788800-92791600	Strong transcription	Fetal Lung	lung
39	chr1:92788800-92791800	Strong transcription	Liver	Liver
40	chr1:92788800-92791800	Strong transcription	Placenta	Placenta
41	chr1:92789000-92791600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:92789000-92791600	Strong transcription	Fetal Kidney	kidney
43	chr1:92789000-92791600	Strong transcription	HSMM	muscle
44	chr1:92789000-92791800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:92789000-92792000	Strong transcription	Fetal Intestine Large	intestine
46	chr1:92789000-92792200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:92789000-92792200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:92789000-92792400	Strong transcription	Osteobl	bone
49	chr1:92789000-92792600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:92789000-92792600	Strong transcription	Muscle Satellite Cultured Cells	--

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