Variant report

Variant	rs7138157
Chromosome Location	chr12:51721976-51721977
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51475890..51478856-chr12:51719210..51722345,3	K562	blood:
2	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:
3	chr12:51417902..51420501-chr12:51719275..51722211,2	K562	blood:
4	chr12:51710356..51713645-chr12:51720668..51723733,3	MCF-7	breast:
5	chr12:51719185..51720763-chr12:51721819..51723856,2	MCF-7	breast:
6	chr12:51720048..51722146-chr12:51747016..51749714,2	K562	blood:
7	chr12:51661800..51664432-chr12:51720431..51722225,2	K562	blood:
8	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
9	chr12:51566806..51568529-chr12:51720798..51723312,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10876158	1.00[EUR][1000 genomes]
rs11169753	1.00[EUR][1000 genomes]
rs12297981	1.00[EUR][1000 genomes]
rs12304834	1.00[EUR][1000 genomes]
rs12310188	1.00[EUR][1000 genomes]
rs12310717	1.00[EUR][1000 genomes]
rs12321105	1.00[EUR][1000 genomes]
rs2359600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359602	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3951439	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57341229	1.00[EUR][1000 genomes]
rs6580825	1.00[EUR][1000 genomes]
rs7134300	1.00[EUR][1000 genomes]
rs7134437	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7134808	1.00[EUR][1000 genomes]
rs7297398	1.00[EUR][1000 genomes]
rs7301520	1.00[EUR][1000 genomes]
rs7342309	1.00[EUR][1000 genomes]
rs7486892	1.00[EUR][1000 genomes]
rs7488776	1.00[EUR][1000 genomes]
rs7971653	1.00[EUR][1000 genomes]
rs7979358	1.00[EUR][1000 genomes]
rs7980682	1.00[EUR][1000 genomes]
rs7980927	1.00[EUR][1000 genomes]
rs9804923	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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51717600-51722600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:51717800-51722200	Weak transcription	Small Intestine	intestine
3	chr12:51718000-51722400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:51718000-51724400	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:51718000-51724400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:51718400-51722200	Enhancers	Primary T cells from cord blood	blood
7	chr12:51718400-51722400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:51718400-51722400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:51718400-51722600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:51718400-51723000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:51718400-51723200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:51718400-51723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:51718400-51724400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:51718400-51724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:51718400-51724400	Enhancers	Placenta	Placenta
16	chr12:51718400-51724400	Enhancers	Fetal Thymus	thymus
17	chr12:51718400-51727800	Weak transcription	Colonic Mucosa	Colon
18	chr12:51718600-51723000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:51719400-51723200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:51719600-51723200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:51719600-51723800	Enhancers	Dnd41	blood
22	chr12:51719800-51724200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:51720000-51722000	Enhancers	Liver	Liver
24	chr12:51720000-51722600	Enhancers	Brain Hippocampus Middle	brain
25	chr12:51720000-51723200	Enhancers	Thymus	Thymus
26	chr12:51720000-51723400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:51720600-51722000	Weak transcription	Right Atrium	heart
28	chr12:51720800-51728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:51720800-51735000	Weak transcription	Esophagus	oesophagus
30	chr12:51721000-51722200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:51721000-51722400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:51721000-51723200	Weak transcription	Stomach Mucosa	stomach
33	chr12:51721000-51724200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr12:51721000-51724400	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:51721200-51722200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:51721200-51722200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:51721200-51722400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:51721200-51722400	Weak transcription	Fetal Lung	lung
39	chr12:51721200-51722800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:51721200-51722800	Enhancers	Hela-S3	cervix
41	chr12:51721200-51723000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:51721200-51723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:51721200-51723200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:51721200-51723400	Weak transcription	Osteobl	bone
45	chr12:51721200-51723600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:51721200-51723800	Weak transcription	HSMMtube	muscle
47	chr12:51721200-51724200	Enhancers	Primary B cells from cord blood	blood
48	chr12:51721200-51724600	Weak transcription	A549	lung
49	chr12:51721200-51735000	Weak transcription	NHDF-Ad	bronchial
50	chr12:51721400-51723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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