Variant report

Variant	rs6990833
Chromosome Location	chr8:49469523-49469524
allele	G/T
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	EP300	chr8:49466149-49471042	SK-N-SH	brain:	n/a	chr8:49467741-49467754 chr8:49469222-49469232 chr8:49467564-49467573 chr8:49469072-49469079
2	EP300	chr8:49468671-49469553	SK-N-SH_RA	brain:	n/a	chr8:49469222-49469232 chr8:49469072-49469079
3	SIN3A	chr8:49468747-49469524	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr8:49466557-49470365	SK-N-SH	brain:	n/a	chr8:49466851-49466860
5	JUND	chr8:49467260-49470456	SK-N-SH	brain:	n/a	chr8:49469758-49469770 chr8:49467564-49467572 chr8:49467565-49467576 chr8:49467796-49467810 chr8:49467564-49467572 chr8:49467563-49467574 chr8:49467564-49467571
6	TCF12	chr8:49467109-49469661	SK-N-SH	brain:	n/a	chr8:49468342-49468349 chr8:49467527-49467535 chr8:49468343-49468353 chr8:49469481-49469489
7	RAD21	chr8:49469077-49469552	SK-N-SH_RA	brain:	n/a	chr8:49469439-49469449
8	RAD21	chr8:49469187-49469637	SK-N-SH_RA	brain:	n/a	chr8:49469439-49469449
9	CTCF	chr8:49469380-49469530	BJ	skin:	n/a	chr8:49469436-49469449 chr8:49469433-49469451
10	CTCF	chr8:49469520-49469670	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000253688	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087276	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10087665	0.87[AFR][1000 genomes]
rs10089933	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10091807	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10094801	0.83[JPT][hapmap]
rs10104817	0.85[EUR][1000 genomes]
rs10107213	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957175	0.82[GIH][hapmap];0.95[MEX][hapmap]
rs11990598	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12386841	0.85[EUR][1000 genomes]
rs13263338	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13265552	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16937921	0.86[AFR][1000 genomes]
rs16938118	0.82[GIH][hapmap];0.89[MEX][hapmap]
rs1910251	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2200084	0.82[JPT][hapmap]
rs2279300	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap]
rs2279301	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap]
rs2279302	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap]
rs2291225	0.82[CEU][hapmap]
rs2384925	0.86[GIH][hapmap];0.95[MEX][hapmap]
rs28689821	0.87[AFR][1000 genomes]
rs2891637	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5001149	0.83[JPT][hapmap]
rs6471906	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs6981394	0.93[AFR][1000 genomes]
rs6988484	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7000226	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012665	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7013462	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7014106	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs733192	0.82[CEU][hapmap]
rs7818323	0.94[ASW][hapmap];0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868444	0.83[JPT][hapmap]
rs937651	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49467600-49470400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:49467800-49469600	Flanking Active TSS	HSMM	muscle
3	chr8:49467800-49470000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:49467800-49470400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr8:49468400-49469600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr8:49469000-49469600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:49469000-49469600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49469000-49469600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr8:49469000-49469600	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr8:49469000-49469600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr8:49469000-49469600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
12	chr8:49469000-49469600	Flanking Active TSS	NHLF	lung
13	chr8:49469000-49469800	Flanking Active TSS	NHDF-Ad	bronchial
14	chr8:49469000-49470200	Flanking Active TSS	Osteobl	bone
15	chr8:49469000-49470600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:49469000-49470600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:49469000-49470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:49469000-49470800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:49469200-49469600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:49469200-49469600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:49469200-49469600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr8:49469200-49469600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:49469200-49469600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:49469200-49469600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:49469200-49469600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr8:49469200-49469600	Enhancers	Brain Substantia Nigra	brain
27	chr8:49469200-49469600	Enhancers	Fetal Brain Male	brain
28	chr8:49469200-49469600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:49469200-49469600	Bivalent Enhancer	Psoas Muscle	Psoas
30	chr8:49469200-49469600	Enhancers	Right Ventricle	heart
31	chr8:49469200-49469800	Weak transcription	Aorta	Aorta
32	chr8:49469200-49469800	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr8:49469200-49469800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
34	chr8:49469200-49469800	Enhancers	Lung	lung
35	chr8:49469200-49469800	Enhancers	Pancreas	Pancrea
36	chr8:49469200-49470000	Enhancers	Colon Smooth Muscle	Colon
37	chr8:49469200-49470600	Bivalent Enhancer	Fetal Kidney	kidney
38	chr8:49469200-49470800	Enhancers	Fetal Muscle Leg	muscle
39	chr8:49469200-49470800	Enhancers	Placenta	Placenta
40	chr8:49469200-49471200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:49469400-49469600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr8:49469400-49469600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr8:49469400-49469600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:49469400-49469600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:49469400-49469600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr8:49469400-49469600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr8:49469400-49469600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:49469400-49469600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
49	chr8:49469400-49469600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:49469400-49469600	Enhancers	Brain Germinal Matrix	brain

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