Variant report

Variant	rs9814796
Chromosome Location	chr3:150422469-150422470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150421447-150422471	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr3:150420920-150422591	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150320068..150322587-chr3:150419780..150423653,7	MCF-7	breast:
2	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
3	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
4	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:

Variant related genes	Relation type
FAM194A	TF binding region
ENSG00000240137	TF binding region
ENSG00000244265	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000181788	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12494272	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12630292	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12634699	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12638096	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1897489	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1897491	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28460384	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28790675	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4558804	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55838848	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6766333	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6784407	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7641475	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7648424	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7650706	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9682958	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9848451	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9858987	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9869495	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9876621	0.95[AMR][1000 genomes];0.99[EUR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150420800-150422600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:150420800-150422600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:150420800-150422600	Active TSS	A549	lung
4	chr3:150421000-150422600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr3:150421000-150422600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:150421000-150422600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:150421000-150422600	Active TSS	Aorta	Aorta
8	chr3:150421000-150422600	Active TSS	Fetal Brain Female	brain
9	chr3:150421000-150422600	Flanking Active TSS	Dnd41	blood
10	chr3:150421000-150422600	Active TSS	Hela-S3	cervix
11	chr3:150421000-150422600	Active TSS	HMEC	breast
12	chr3:150421000-150422600	Active TSS	NHDF-Ad	bronchial
13	chr3:150421000-150422600	Active TSS	NHLF	lung
14	chr3:150421200-150422600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:150421400-150422600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:150421400-150422600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:150421400-150422600	Active TSS	Colonic Mucosa	Colon
18	chr3:150421400-150422600	Active TSS	GM12878-XiMat	blood
19	chr3:150421800-150422600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr3:150422000-150422600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr3:150422000-150422600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:150422000-150422600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:150422000-150422600	Flanking Active TSS	HUVEC	blood vessel
24	chr3:150422000-150422600	Flanking Active TSS	NH-A	brain
25	chr3:150422000-150422600	Flanking Active TSS	Osteobl	bone
26	chr3:150422000-150430400	Weak transcription	Spleen	Spleen
27	chr3:150422200-150422600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:150422200-150422600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr3:150422200-150422600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr3:150422200-150422600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:150422200-150422600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:150422200-150422600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:150422200-150422600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:150422200-150422600	Enhancers	Liver	Liver
35	chr3:150422200-150422600	Flanking Active TSS	Fetal Kidney	kidney
36	chr3:150422200-150422600	Enhancers	Small Intestine	intestine
37	chr3:150422200-150422800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:150422200-150422800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:150422200-150423600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:150422200-150423800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:150422200-150428000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:150422200-150428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:150422200-150429800	Weak transcription	Pancreas	Pancrea
44	chr3:150422200-150439400	Weak transcription	Ovary	ovary
45	chr3:150422200-150443200	Weak transcription	Lung	lung
46	chr3:150422400-150422600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:150422400-150422600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:150422400-150422600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:150422400-150422600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:150422400-150422600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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