Variant report

Variant	rs73281407
Chromosome Location	chr12:45668782-45668783
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45662725..45665440-chr12:45666168..45668980,3	K562	blood:
2	chr12:45608183..45610054-chr12:45668123..45670061,2	MCF-7	breast:
3	chr12:45666236..45669203-chr12:45679829..45682427,2	MCF-7	breast:
4	chr12:45668006..45670092-chr12:45670299..45672626,2	MCF-7	breast:
5	chr12:45668515..45671060-chr12:45676704..45679676,2	K562	blood:
6	chr12:45654235..45656718-chr12:45666957..45669692,2	MCF-7	breast:
7	chr12:45668554..45670419-chr12:45671856..45674022,2	K562	blood:
8	chr12:45608744..45610337-chr12:45668479..45671115,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs57266792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57314223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57732899	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59030619	0.80[AFR][1000 genomes]
rs59569841	1.00[AMR][1000 genomes]
rs59846961	0.80[AFR][1000 genomes]
rs59899152	0.80[AFR][1000 genomes]
rs60840825	1.00[AMR][1000 genomes]
rs61471266	0.80[AFR][1000 genomes]
rs73275006	1.00[AMR][1000 genomes]
rs73275009	1.00[AMR][1000 genomes]
rs73275021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279279	1.00[AMR][1000 genomes]
rs73279288	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279680	1.00[AMR][1000 genomes]
rs73279683	1.00[AMR][1000 genomes]
rs73279690	0.80[AFR][1000 genomes]
rs73279696	0.80[AFR][1000 genomes]
rs73279698	0.80[AFR][1000 genomes]
rs73279700	0.80[AFR][1000 genomes]
rs73281306	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281425	1.00[AMR][1000 genomes]
rs73281431	1.00[AMR][1000 genomes]
rs73281450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281453	1.00[AMR][1000 genomes]
rs73281454	1.00[AMR][1000 genomes]
rs73281506	0.84[AFR][1000 genomes]
rs73281507	0.84[AFR][1000 genomes]
rs73281510	0.80[AFR][1000 genomes]
rs73281512	0.80[AFR][1000 genomes]
rs73281519	0.80[AFR][1000 genomes]
rs73281526	0.80[AFR][1000 genomes]
rs73281536	0.80[AFR][1000 genomes]
rs73281545	0.80[AFR][1000 genomes]
rs73281549	0.80[AFR][1000 genomes]
rs73281553	0.80[AFR][1000 genomes]
rs73281555	0.80[AFR][1000 genomes]
rs73281565	0.80[AFR][1000 genomes]
rs73281566	0.80[AFR][1000 genomes]
rs73281571	0.80[AFR][1000 genomes]
rs73281577	0.80[AFR][1000 genomes]
rs73281581	0.80[AFR][1000 genomes]
rs73281585	0.80[AFR][1000 genomes]
rs73281588	0.80[AFR][1000 genomes]
rs73281594	0.80[AFR][1000 genomes]
rs73281599	0.84[AFR][1000 genomes]
rs73281602	0.84[AFR][1000 genomes]
rs73283310	0.84[AFR][1000 genomes]
rs73283315	0.84[AFR][1000 genomes]
rs73293360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293363	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45662800-45677400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:45663000-45670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:45663000-45677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:45663000-45677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:45663000-45678200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:45663200-45674000	Weak transcription	Dnd41	blood
12	chr12:45663200-45678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:45663400-45672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:45663400-45677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:45663400-45677400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
17	chr12:45663600-45674400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:45663600-45677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:45664000-45672200	Weak transcription	Liver	Liver
20	chr12:45664000-45676000	Weak transcription	Fetal Stomach	stomach
21	chr12:45664000-45678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:45664200-45669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:45664400-45677600	Weak transcription	Fetal Kidney	kidney
24	chr12:45665000-45668800	Enhancers	NHDF-Ad	bronchial
25	chr12:45665000-45673600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:45665600-45676000	Weak transcription	Thymus	Thymus
27	chr12:45666200-45668800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:45666600-45670600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:45666800-45668800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:45666800-45668800	Enhancers	Hela-S3	cervix
32	chr12:45666800-45668800	Enhancers	HMEC	breast
33	chr12:45666800-45668800	Enhancers	NHLF	lung
34	chr12:45667000-45668800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:45667000-45670400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:45667200-45668800	Enhancers	Fetal Heart	heart
37	chr12:45667200-45670200	Enhancers	Psoas Muscle	Psoas
38	chr12:45667400-45668800	Enhancers	Left Ventricle	heart
39	chr12:45667400-45670400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:45667600-45668800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:45667600-45670200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:45667800-45668800	Enhancers	Lung	lung
43	chr12:45667800-45668800	Genic enhancers	A549	lung
44	chr12:45667800-45668800	Genic enhancers	NHEK	skin
45	chr12:45668000-45668800	Genic enhancers	HSMM	muscle
46	chr12:45668000-45669800	Weak transcription	Fetal Lung	lung
47	chr12:45668000-45670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:45668000-45670000	Weak transcription	Esophagus	oesophagus
49	chr12:45668000-45670000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:45668000-45672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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