Variant report

Variant	rs2984126
Chromosome Location	chr6:73998510-73998511
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	chr6:73998467-73998589	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:73996896-73998925	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73997793..73999329-chr6:74000981..74003213,2	K562	blood:

Variant related genes	Relation type
RPSAP41	TF binding region
EIF3EP1	TF binding region
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13197259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13197436	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13209676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13211102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217787	0.86[EUR][1000 genomes]
rs16883538	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883555	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883559	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16883561	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054042	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054043	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2124003	0.81[AMR][1000 genomes]
rs2603472	0.88[ASN][1000 genomes]
rs2603474	0.88[ASN][1000 genomes]
rs28360591	0.81[AMR][1000 genomes]
rs2984128	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2984130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34602913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34826679	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34926279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34977156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35227086	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35705185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806061	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35830226	0.86[EUR][1000 genomes]
rs35879937	0.95[EUR][1000 genomes]
rs35892768	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36044937	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36049164	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36114303	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3734511	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60093179	0.81[AMR][1000 genomes]
rs61400658	0.81[AMR][1000 genomes]
rs6915288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71573587	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71573588	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71573589	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71573590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71573591	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7752970	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7753960	0.81[AMR][1000 genomes]
rs7754533	0.81[AMR][1000 genomes]
rs7758669	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs947753	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73973400-74000400	Weak transcription	Aorta	Aorta
2	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:73973600-74018600	Weak transcription	A549	lung
4	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:73973800-74000400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:73974000-74000400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:73974000-74009000	Weak transcription	HSMM	muscle
8	chr6:73974000-74018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:73974400-74000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:73974400-74000400	Weak transcription	NHDF-Ad	bronchial
11	chr6:73974400-74008800	Weak transcription	NH-A	brain
12	chr6:73974400-74009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:73974600-74008600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:73974800-74000400	Weak transcription	Brain Anterior Caudate	brain
15	chr6:73974800-74008600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:73977400-74008800	Weak transcription	Fetal Brain Male	brain
17	chr6:73979200-74004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:73983800-74018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:73984400-74000200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:73984400-74018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:73984600-74002200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:73984800-74000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:73984800-74004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:73984800-74008600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:73985200-74000400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:73985200-74004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:73985200-74008800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:73985400-74000000	Weak transcription	HMEC	breast
29	chr6:73985400-74000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:73985400-74000600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:73985400-74009000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:73985600-74000400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:73985600-74000400	Weak transcription	Brain Germinal Matrix	brain
34	chr6:73985600-74000400	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:73985600-74004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:73985600-74008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:73985600-74008800	Weak transcription	Thymus	Thymus
38	chr6:73985800-74000200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:73985800-74000400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:73985800-74006800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:73985800-74008800	Weak transcription	Ovary	ovary
42	chr6:73986000-74000400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:73986400-74000000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:73986400-74008600	Weak transcription	Fetal Brain Female	brain
45	chr6:73989000-74000000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:73989000-74017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:73989800-74008800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:73990000-74003800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:73991000-74000800	Weak transcription	Fetal Thymus	thymus
50	chr6:73991600-74000200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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