Variant report

Variant	rs58793818
Chromosome Location	chr3:194893296-194893297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194873010..194875732-chr3:194891236..194893361,2	K562	blood:
2	chr3:194891367..194893935-chr3:194901247..194904072,2	K562	blood:
3	chr3:194892527..194894676-chr3:195164792..195166496,2	K562	blood:
4	chr3:194881175..194883958-chr3:194892435..194894199,2	K562	blood:
5	chr3:194888992..194890540-chr3:194891436..194894097,2	K562	blood:
6	chr3:194893170..194895708-chr3:194897276..194900351,5	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57868034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57892101	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58105998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58122488	1.00[AFR][1000 genomes]
rs59682436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60374993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61168926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063106	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063126	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7633328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7640967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7645017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7653427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
14	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194862400-194897800	Weak transcription	Dnd41	blood
2	chr3:194876800-194893800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
4	chr3:194881600-194903000	Weak transcription	HSMM	muscle
5	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
7	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
9	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
10	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:194885400-194906600	Weak transcription	Gastric	stomach
12	chr3:194885600-194900600	Weak transcription	Ovary	ovary
13	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
14	chr3:194886800-194896400	Weak transcription	Pancreas	Pancrea
15	chr3:194887000-194895800	Weak transcription	Fetal Intestine Small	intestine
16	chr3:194889800-194900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:194890200-194895000	Weak transcription	Brain Germinal Matrix	brain
19	chr3:194890200-194896200	Weak transcription	HepG2	liver
20	chr3:194890800-194894000	Enhancers	Fetal Brain Male	brain
21	chr3:194891000-194893600	Enhancers	Colon Smooth Muscle	Colon
22	chr3:194891000-194895200	Enhancers	Fetal Heart	heart
23	chr3:194891000-194895200	Enhancers	HUVEC	blood vessel
24	chr3:194891200-194893400	Enhancers	Psoas Muscle	Psoas
25	chr3:194891200-194894200	Enhancers	Fetal Brain Female	brain
26	chr3:194891200-194895400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:194891400-194894000	Enhancers	Left Ventricle	heart
28	chr3:194891400-194895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:194891600-194893400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr3:194891600-194893400	Enhancers	NHDF-Ad	bronchial
31	chr3:194891600-194893600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:194891600-194894400	Enhancers	K562	blood
33	chr3:194891800-194893400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:194891800-194893400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:194891800-194893400	Enhancers	Osteobl	bone
36	chr3:194891800-194893600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr3:194891800-194893800	Enhancers	Right Atrium	heart
38	chr3:194891800-194894800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:194892000-194894000	Enhancers	Right Ventricle	heart
40	chr3:194892000-194894400	Weak transcription	Fetal Stomach	stomach
41	chr3:194892000-194895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:194892000-194899000	Weak transcription	Brain Anterior Caudate	brain
43	chr3:194892000-194899200	Weak transcription	Esophagus	oesophagus
44	chr3:194892200-194899400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:194892200-194902200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:194892400-194893400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:194892400-194894600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:194892400-194895200	Enhancers	Primary hematopoietic stem cells	blood
49	chr3:194892400-194907400	Weak transcription	HSMMtube	muscle
50	chr3:194892600-194894200	Enhancers	HUES48 Cell Line	embryonic stem cell

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