Variant report

Variant	rs58781613
Chromosome Location	chr3:52372046-52372047
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	chr3:52265202..52265784-chr3:52371770..52372299,2	K562	blood:
2	chr3:52320428..52323221-chr3:52370936..52373176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173366	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000168237	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3852064	0.87[AFR][1000 genomes]
rs3890123	1.00[AMR][1000 genomes]
rs55971019	1.00[AMR][1000 genomes]
rs56898787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56961704	1.00[AMR][1000 genomes]
rs59528332	1.00[EUR][1000 genomes]
rs60499166	1.00[AMR][1000 genomes]
rs60997031	1.00[AMR][1000 genomes]
rs61734628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61737029	1.00[EUR][1000 genomes]
rs6766038	1.00[AMR][1000 genomes]
rs72965257	1.00[EUR][1000 genomes]
rs73835766	1.00[AMR][1000 genomes]
rs73837049	1.00[AMR][1000 genomes]
rs73837599	1.00[AMR][1000 genomes]
rs73838354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7641255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52330400-52378600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:52344600-52378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:52352000-52379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:52352200-52379000	Weak transcription	Colonic Mucosa	Colon
5	chr3:52352200-52382000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:52352200-52384600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:52352600-52373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:52352600-52379400	Weak transcription	Pancreas	Pancrea
9	chr3:52353400-52377400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:52354400-52379800	Weak transcription	Esophagus	oesophagus
11	chr3:52354800-52384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:52358400-52380400	Weak transcription	Ovary	ovary
13	chr3:52360400-52376200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:52362200-52375000	Weak transcription	Fetal Thymus	thymus
15	chr3:52362400-52378200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:52362800-52378600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:52364200-52375800	Weak transcription	GM12878-XiMat	blood
18	chr3:52364200-52383000	Weak transcription	Fetal Lung	lung
19	chr3:52364400-52379400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:52364800-52373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:52364800-52373400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:52364800-52394400	Weak transcription	HSMMtube	muscle
23	chr3:52365000-52372200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:52366400-52373800	Weak transcription	Fetal Brain Male	brain
25	chr3:52366400-52378400	Weak transcription	Brain Anterior Caudate	brain
26	chr3:52366400-52383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:52366600-52373400	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:52366600-52373400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:52366600-52375200	Weak transcription	Lung	lung
30	chr3:52366600-52377800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:52366600-52377800	Weak transcription	Spleen	Spleen
32	chr3:52366600-52378400	Weak transcription	Gastric	stomach
33	chr3:52366600-52379400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:52366600-52386600	Weak transcription	Aorta	Aorta
35	chr3:52366800-52383000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:52367200-52373600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:52367200-52378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:52367200-52379600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:52367600-52384400	Weak transcription	Fetal Kidney	kidney
40	chr3:52367800-52375800	Weak transcription	Fetal Stomach	stomach
41	chr3:52368400-52373400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:52368400-52373400	Weak transcription	Brain Angular Gyrus	brain
43	chr3:52368400-52373400	Weak transcription	Brain Substantia Nigra	brain
44	chr3:52368400-52374000	Weak transcription	Thymus	Thymus
45	chr3:52368400-52375000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:52368400-52376200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:52368400-52378400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:52368400-52378400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:52368400-52378600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:52368400-52383000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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