Variant report

Variant	rs868444
Chromosome Location	chr8:49502481-49502482
allele	A/C
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	NFIC	chr8:49502146-49503302	SK-N-SH	brain:	n/a	n/a
2	FOXM1	chr8:49502438-49503109	SK-N-SH	brain:	n/a	n/a
3	MAFK	chr8:49501932-49503203	IMR90	lung:	n/a	chr8:49502731-49502740 chr8:49502726-49502742 chr8:49502730-49502740 chr8:49502724-49502744 chr8:49502882-49502892 chr8:49502882-49502891 chr8:49502727-49502741
4	FOS	chr8:49502445-49503200	MCF10A-Er-Src	breast:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502884-49502892 chr8:49502861-49502872 chr8:49502729-49502739 chr8:49502730-49502737
5	MAX	chr8:49502439-49503233	SK-N-SH	brain:	n/a	chr8:49502730-49502739
6	PBX3	chr8:49502186-49503183	SK-N-SH	brain:	n/a	n/a
7	MAX	chr8:49502414-49503294	SK-N-SH	brain:	n/a	chr8:49502730-49502739
8	POLR2A	chr8:49502395-49503163	U87	brain:	n/a	n/a
9	POLR2A	chr8:49502313-49503192	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr8:49502090-49503320	SK-N-SH	brain:	n/a	chr8:49502102-49502109
11	EP300	chr8:49502116-49503383	SK-N-SH	brain:	n/a	chr8:49502730-49502739
12	RXRA	chr8:49502278-49503205	SK-N-SH	brain:	n/a	chr8:49502762-49502771
13	POLR2A	chr8:49502423-49502926	SK-N-SH	brain:	n/a	n/a
14	YY1	chr8:49502457-49503024	SK-N-SH_RA	brain:	n/a	n/a
15	MEF2A	chr8:49502299-49503237	SK-N-SH	brain:	n/a	chr8:49502730-49502738
16	TEAD4	chr8:49502289-49503274	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr8:49502054-49503392	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr8:49502198-49503247	SK-N-SH	brain:	n/a	n/a
19	EP300	chr8:49502013-49503108	SK-N-SH_RA	brain:	n/a	chr8:49502730-49502739
20	ZBTB33	chr8:49502369-49503133	SK-N-SH	brain:	n/a	n/a
21	EP300	chr8:49502412-49503138	SK-N-SH_RA	brain:	n/a	chr8:49502730-49502739
22	FOSL2	chr8:49502451-49503158	A549	lung:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
23	NFIC	chr8:49502371-49503183	SK-N-SH	brain:	n/a	n/a
24	TAF1	chr8:49502396-49503000	PFSK-1	brain:	n/a	n/a
25	RXRA	chr8:49502267-49503253	SK-N-SH	brain:	n/a	chr8:49502762-49502771
26	JUND	chr8:49501736-49503939	SK-N-SH	brain:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502861-49502872 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
27	FOS	chr8:49502466-49503118	MCF10A-Er-Src	breast:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502884-49502892 chr8:49502861-49502872 chr8:49502729-49502739 chr8:49502730-49502737
28	MAX	chr8:49502437-49503335	A549	lung:	n/a	chr8:49502730-49502739
29	GATA3	chr8:49502174-49503277	SK-N-SH	brain:	n/a	n/a
30	JUND	chr8:49502186-49503238	SK-N-SH	brain:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502861-49502872 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
31	TEAD4	chr8:49502291-49503362	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr8:49501901-49503169	U87	brain:	n/a	n/a
33	CEBPB	chr8:49501863-49503144	IMR90	lung:	n/a	n/a
34	FOSL2	chr8:49502330-49503277	SK-N-SH	brain:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
35	POLR2A	chr8:49501589-49504748	IMR90	lung:	n/a	n/a
36	ZBTB33	chr8:49502463-49503208	SK-N-SH	brain:	n/a	n/a
37	FOSL2	chr8:49502461-49503161	SK-N-SH	brain:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
38	TCF12	chr8:49501834-49503477	SK-N-SH	brain:	n/a	n/a
39	RAD21	chr8:49502417-49503004	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr8:49502393-49503200	U87	brain:	n/a	n/a
41	RAD21	chr8:49502473-49503169	SK-N-SH_RA	brain:	n/a	n/a
42	YY1	chr8:49502412-49503143	SK-N-SH	brain:	n/a	n/a
43	RAD21	chr8:49501827-49503324	IMR90	lung:	n/a	n/a
44	YY1	chr8:49502467-49502976	SK-N-SH_RA	brain:	n/a	n/a
45	POLR2A	chr8:49502371-49503176	MCF10A-Er-Src	breast:	n/a	n/a
46	JUND	chr8:49502233-49503245	SK-N-SH	brain:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502861-49502872 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
47	JUND	chr8:49502105-49503073	Hela-S3	cervix:	n/a	chr8:49502885-49502892 chr8:49502728-49502740 chr8:49502730-49502738 chr8:49502730-49502738 chr8:49502861-49502872 chr8:49502884-49502892 chr8:49502729-49502739 chr8:49502730-49502737
48	EP300	chr8:49502247-49503353	SK-N-SH	brain:	n/a	chr8:49502730-49502739

Variant related genes	Relation type
ENSG00000233858	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10087280	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10087665	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092171	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10094801	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10097989	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10098707	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10110147	0.81[EUR][1000 genomes]
rs10110839	0.81[EUR][1000 genomes]
rs10282993	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10957175	0.83[JPT][hapmap]
rs1160606	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774421	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11985324	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11992271	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11995181	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11997525	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1393550	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16937564	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16937767	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16937921	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16938118	0.83[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs1910252	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1976450	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2200083	0.84[JPT][hapmap]
rs2200084	0.89[JPT][hapmap]
rs2384925	0.83[JPT][hapmap]
rs28507516	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28689821	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2891639	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2891641	0.83[JPT][hapmap]
rs5001149	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55851597	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57846507	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6981394	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6990833	0.83[JPT][hapmap]
rs6998738	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7016759	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72639043	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7817656	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7825135	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs931764	0.81[EUR][1000 genomes]
rs970214	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49486600-49503200	Weak transcription	Esophagus	oesophagus
2	chr8:49495000-49504600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:49495600-49519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:49495800-49503000	Weak transcription	Right Ventricle	heart
5	chr8:49496000-49502600	Weak transcription	Right Atrium	heart
6	chr8:49496400-49504000	Weak transcription	Left Ventricle	heart
7	chr8:49497800-49506600	Weak transcription	Fetal Kidney	kidney
8	chr8:49500200-49505400	Enhancers	NHDF-Ad	bronchial
9	chr8:49500600-49504400	Enhancers	Adipose Nuclei	Adipose
10	chr8:49500800-49502600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:49500800-49504800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:49501000-49502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:49501000-49504200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:49501000-49505000	Enhancers	NHLF	lung
15	chr8:49501000-49505600	Enhancers	HSMM	muscle
16	chr8:49501200-49503200	Enhancers	Aorta	Aorta
17	chr8:49501200-49505000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:49501200-49505000	Enhancers	NH-A	brain
19	chr8:49501200-49505000	Enhancers	Osteobl	bone
20	chr8:49501400-49503200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:49501400-49503400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:49501400-49505000	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:49501400-49505400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:49501600-49504200	Enhancers	Ovary	ovary
25	chr8:49501600-49504800	Enhancers	HSMMtube	muscle
26	chr8:49501600-49507000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:49501800-49503200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:49501800-49503200	Weak transcription	Lung	lung
29	chr8:49501800-49503200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr8:49501800-49503400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:49501800-49504600	Enhancers	NHEK	skin
32	chr8:49501800-49504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:49501800-49505000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:49501800-49505200	Enhancers	HMEC	breast
35	chr8:49502000-49503400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:49502000-49503400	Enhancers	Fetal Lung	lung
37	chr8:49502000-49503400	Enhancers	HUVEC	blood vessel
38	chr8:49502000-49503800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:49502000-49504400	Enhancers	Placenta	Placenta
40	chr8:49502000-49504600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:49502000-49504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:49502000-49505000	Enhancers	Hela-S3	cervix
43	chr8:49502200-49503000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:49502200-49503000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:49502200-49503000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:49502200-49504800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:49502400-49504000	Enhancers	A549	lung
48	chr8:49502400-49504400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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