Variant report

Variant	rs58306163
Chromosome Location	chr12:65006421-65006422
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr12:65006275-65006527	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:65006305-65006435	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65001714..65006897-chr12:65088342..65093997,11	MCF-7	breast:
2	chr12:64913800..64915930-chr12:65005783..65007721,2	K562	blood:
3	chr12:65002182..65006670-chr12:65087134..65093452,10	MCF-7	breast:
4	chr12:64796580..64799507-chr12:65002415..65006757,4	K562	blood:
5	chr12:65004550..65006753-chr12:65173633..65175877,2	MCF-7	breast:
6	chr12:65004483..65006802-chr12:65074574..65078170,3	MCF-7	breast:
7	chr12:65001130..65003993-chr12:65004405..65007719,4	K562	blood:
8	chr12:65001959..65007139-chr12:65021874..65025265,5	K562	blood:
9	chr12:65004967..65007120-chr12:65061292..65063041,2	K562	blood:
10	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:
11	chr12:65002651..65005528-chr12:65005572..65007081,2	MCF-7	breast:
12	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256670	TF binding region
ENSG00000207546	Chromatin interaction
ENSG00000111490	Chromatin interaction
ENSG00000225195	Chromatin interaction
ENSG00000184575	Chromatin interaction
ENSG00000268028	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11175467	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299132	1.00[ASN][1000 genomes]
rs12315116	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12828124	1.00[ASN][1000 genomes]
rs34100626	1.00[ASN][1000 genomes]
rs56379182	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58562693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59517579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730726	1.00[ASN][1000 genomes]
rs73319644	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65001800-65006600	Active TSS	A549	lung
2	chr12:65002600-65007000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:65002600-65007800	Active TSS	GM12878-XiMat	blood
4	chr12:65002800-65006600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:65002800-65006600	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr12:65002800-65006600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr12:65002800-65006600	Active TSS	Colon Smooth Muscle	Colon
8	chr12:65002800-65007400	Active TSS	Aorta	Aorta
9	chr12:65003000-65006800	Active TSS	Fetal Stomach	stomach
10	chr12:65003000-65007200	Active TSS	Primary T cells fromperipheralblood	blood
11	chr12:65003000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:65003200-65006600	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:65003200-65006800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:65003200-65007600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:65003400-65006600	Active TSS	Lung	lung
16	chr12:65003400-65006800	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr12:65003400-65007600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:65003600-65006800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:65003800-65006600	Active TSS	Primary T cells from cord blood	blood
20	chr12:65003800-65006600	Active TSS	HUVEC	blood vessel
21	chr12:65004800-65006800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr12:65004800-65007000	Active TSS	Stomach Smooth Muscle	stomach
23	chr12:65004800-65007200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:65005200-65006600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr12:65005400-65006800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:65005400-65006800	Flanking Active TSS	Hela-S3	cervix
27	chr12:65005400-65007000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:65005400-65007200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:65005400-65007800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr12:65005600-65010200	Weak transcription	Spleen	Spleen
31	chr12:65005800-65006600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:65005800-65008000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:65005800-65010200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:65005800-65015200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:65005800-65017800	Weak transcription	Gastric	stomach
36	chr12:65006000-65006600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:65006000-65006600	Enhancers	Placenta	Placenta
38	chr12:65006000-65006600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:65006000-65006600	Enhancers	Stomach Mucosa	stomach
40	chr12:65006000-65006800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:65006000-65007200	Enhancers	HepG2	liver
42	chr12:65006000-65009800	Weak transcription	Brain Angular Gyrus	brain
43	chr12:65006000-65010000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:65006000-65012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:65006200-65006600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:65006200-65006600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:65006200-65006600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:65006200-65006600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:65006200-65006600	Enhancers	Fetal Intestine Large	intestine
50	chr12:65006200-65006600	Enhancers	Rectal Mucosa Donor 31	rectum

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