Variant report

Variant	rs58237186
Chromosome Location	chr12:48126487-48126488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48098253..48100778-chr12:48124904..48127271,2	MCF-7	breast:
2	chr12:48125574..48127133-chr12:48129980..48132497,2	MCF-7	breast:
3	chr12:48117242..48121350-chr12:48124704..48128284,5	MCF-7	breast:
4	chr12:48125664..48127471-chr12:48127761..48129880,2	MCF-7	breast:
5	chr12:48126373..48130503-chr12:48131382..48133997,3	K562	blood:
6	chr12:48126300..48127984-chr12:48159305..48162303,2	K562	blood:
7	chr12:48113473..48116472-chr12:48126075..48128753,2	MCF-7	breast:
8	chr12:48124296..48127190-chr12:48166396..48170138,3	MCF-7	breast:
9	chr12:48125681..48127721-chr12:48144377..48147323,2	K562	blood:
10	chr12:48118637..48121187-chr12:48125569..48128782,4	K562	blood:
11	chr12:48122622..48126569-chr12:48133427..48136331,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005175	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000079337	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1859256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57162394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57691959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58232701	1.00[AFR][1000 genomes]
rs58280987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58348653	1.00[AMR][1000 genomes]
rs58350284	1.00[AMR][1000 genomes]
rs58636268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59421933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60045275	1.00[AMR][1000 genomes]
rs60186089	0.86[AFR][1000 genomes]
rs60608560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61033936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61288073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61327127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61446607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61734364	1.00[AMR][1000 genomes]
rs61739888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7308032	0.94[AFR][1000 genomes]
rs7314320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300649	1.00[AMR][1000 genomes]
rs73300689	1.00[AMR][1000 genomes]
rs73300701	1.00[AMR][1000 genomes]
rs73302603	1.00[AMR][1000 genomes]
rs73302628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302698	0.92[AFR][1000 genomes]
rs757283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965816	1.00[AMR][1000 genomes]
rs877196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs877197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs877198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9738787	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	75 gene(s)	inside rSNPs	diseases
5	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
6	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
6	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
10	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
12	chr12:48117000-48129000	Weak transcription	Psoas Muscle	Psoas
13	chr12:48118200-48128800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:48119800-48128600	Weak transcription	Colonic Mucosa	Colon
15	chr12:48120400-48128600	Weak transcription	NH-A	brain
16	chr12:48123000-48128400	Weak transcription	Spleen	Spleen
17	chr12:48123600-48127000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:48123600-48128600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48123600-48128600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:48123800-48128200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:48124000-48127400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:48124200-48126800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:48124200-48127000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:48124200-48128400	Weak transcription	Fetal Kidney	kidney
25	chr12:48124200-48130000	Weak transcription	Liver	Liver
26	chr12:48124400-48129000	Weak transcription	Gastric	stomach
27	chr12:48124400-48129600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:48124600-48126800	Weak transcription	Esophagus	oesophagus
29	chr12:48124600-48128200	Weak transcription	HSMMtube	muscle
30	chr12:48124600-48128400	Weak transcription	Lung	lung
31	chr12:48124600-48128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:48124600-48130000	Weak transcription	K562	blood
33	chr12:48124800-48126800	Weak transcription	Ovary	ovary
34	chr12:48124800-48126800	Weak transcription	Right Ventricle	heart
35	chr12:48124800-48128200	Weak transcription	Fetal Lung	lung
36	chr12:48124800-48128800	Weak transcription	HSMM	muscle
37	chr12:48124800-48129400	Weak transcription	NHLF	lung
38	chr12:48124800-48130000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:48125000-48128600	Weak transcription	Pancreas	Pancrea
40	chr12:48125400-48129600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:48125400-48132200	Enhancers	Fetal Muscle Leg	muscle
42	chr12:48125600-48129000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:48125600-48129600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:48125600-48130800	Enhancers	Brain Hippocampus Middle	brain
45	chr12:48125600-48132200	Enhancers	Brain Substantia Nigra	brain
46	chr12:48125800-48127000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:48125800-48127200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:48125800-48127200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:48125800-48127600	Enhancers	Brain Anterior Caudate	brain
50	chr12:48125800-48129200	Enhancers	Brain Cingulate Gyrus	brain

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