Variant report

Variant	rs57849650
Chromosome Location	chr3:52391473-52391474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52389433..52392179-chr3:52403246..52405082,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10460962	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10461027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10461028	0.91[EUR][1000 genomes]
rs10865971	0.88[EUR][1000 genomes]
rs11706515	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11706541	0.87[EUR][1000 genomes]
rs11707056	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11708581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11708811	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11710014	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11711914	0.88[EUR][1000 genomes]
rs11711974	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713914	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11714358	0.94[EUR][1000 genomes]
rs11715208	0.94[EUR][1000 genomes]
rs11715382	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11715391	0.91[EUR][1000 genomes]
rs11716487	0.83[EUR][1000 genomes]
rs11717028	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11718729	0.90[EUR][1000 genomes]
rs11719760	0.87[EUR][1000 genomes]
rs11720365	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11721277	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17052051	0.90[EUR][1000 genomes]
rs17052052	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17052053	0.90[EUR][1000 genomes]
rs17052054	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17263770	0.87[EUR][1000 genomes]
rs1767	0.90[EUR][1000 genomes]
rs1769	0.94[EUR][1000 genomes]
rs35976326	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3733063	0.90[EUR][1000 genomes]
rs3886875	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4082828	0.90[EUR][1000 genomes]
rs55676974	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55806905	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55813842	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55847657	0.90[EUR][1000 genomes]
rs56002041	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56322342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56352611	0.90[EUR][1000 genomes]
rs56899118	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58531656	0.90[EUR][1000 genomes]
rs60382084	0.90[EUR][1000 genomes]
rs61644644	0.94[EUR][1000 genomes]
rs6445385	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6776759	0.87[EUR][1000 genomes]
rs6783652	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6793317	0.90[EUR][1000 genomes]
rs6809248	0.90[EUR][1000 genomes]
rs724801	0.88[EUR][1000 genomes]
rs729555	0.88[EUR][1000 genomes]
rs73072990	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088773	0.91[EUR][1000 genomes]
rs73088783	0.90[EUR][1000 genomes]
rs73088785	0.90[EUR][1000 genomes]
rs73088791	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088800	0.90[EUR][1000 genomes]
rs73091166	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091168	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs746239	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615405	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7628461	0.90[EUR][1000 genomes]
rs7633687	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7638204	0.91[EUR][1000 genomes]
rs7643913	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
2	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
5	nsv979833	chr3:52387550-52407592	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52364800-52394400	Weak transcription	HSMMtube	muscle
2	chr3:52373800-52396000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:52374000-52399000	Weak transcription	Stomach Mucosa	stomach
4	chr3:52374000-52407000	Strong transcription	Fetal Intestine Small	intestine
5	chr3:52374200-52427000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:52375400-52405600	Strong transcription	Lung	lung
7	chr3:52376400-52402000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:52377000-52406600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:52377000-52406600	Strong transcription	Liver	Liver
10	chr3:52377200-52405200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:52377400-52397400	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr3:52377400-52404800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:52377400-52406600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:52377400-52406800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:52377600-52406200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:52377800-52406200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:52377800-52407200	Strong transcription	Fetal Intestine Large	intestine
18	chr3:52378200-52391600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr3:52378400-52400000	Strong transcription	Brain Anterior Caudate	brain
20	chr3:52378400-52401200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:52378400-52401200	Strong transcription	Gastric	stomach
22	chr3:52378400-52401800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:52378600-52400000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:52378600-52400200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr3:52378600-52400200	Strong transcription	Brain Hippocampus Middle	brain
26	chr3:52378600-52405000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:52378600-52406800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:52379400-52410600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:52380400-52401000	Strong transcription	Placenta	Placenta
30	chr3:52380800-52396400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:52381400-52401200	Strong transcription	Ovary	ovary
32	chr3:52381400-52402600	Strong transcription	Fetal Stomach	stomach
33	chr3:52381400-52404200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:52381400-52407400	Weak transcription	NHLF	lung
35	chr3:52381600-52392600	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:52381600-52396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:52381600-52397600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr3:52381600-52405400	Strong transcription	Adipose Nuclei	Adipose
39	chr3:52381600-52405800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:52381800-52397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:52382200-52395800	Weak transcription	Psoas Muscle	Psoas
42	chr3:52382400-52396000	Strong transcription	Colonic Mucosa	Colon
43	chr3:52383000-52401400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:52383600-52394000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:52383600-52394000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:52384000-52394400	Weak transcription	Fetal Lung	lung
47	chr3:52384000-52395400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:52384600-52406200	Weak transcription	GM12878-XiMat	blood
49	chr3:52385400-52398400	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:52385400-52434600	Weak transcription	Small Intestine	intestine

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