Variant report

Variant	rs6994385
Chromosome Location	chr8:62279702-62279703
allele	C/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	STAT3	chr8:62279515-62279931	MCF10A-Er-Src	breast:	n/a	chr8:62279655-62279662
2	FOS	chr8:62278841-62280003	MCF10A-Er-Src	breast:	n/a	chr8:62279057-62279066 chr8:62279053-62279064 chr8:62279541-62279549 chr8:62279055-62279067 chr8:62279058-62279065 chr8:62279057-62279065 chr8:62279055-62279062 chr8:62279785-62279794
3	MYC	chr8:62279514-62279863	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr8:62279524-62279874	HL-60	blood:	n/a	chr8:62279688-62279701 chr8:62279577-62279584
5	CEBPB	chr8:62279509-62279862	H1-hESC	embryonic stem cell:	n/a	chr8:62279677-62279694 chr8:62279680-62279691
6	STAT3	chr8:62279594-62279809	MCF10A-Er-Src	breast:	n/a	chr8:62279655-62279662
7	STAT3	chr8:62279529-62279858	MCF10A-Er-Src	breast:	n/a	chr8:62279655-62279662
8	CEBPB	chr8:62279549-62279789	K562	blood:	n/a	chr8:62279677-62279694 chr8:62279680-62279691
9	FOS	chr8:62278872-62279864	MCF10A-Er-Src	breast:	n/a	chr8:62279057-62279066 chr8:62279053-62279064 chr8:62279541-62279549 chr8:62279055-62279067 chr8:62279058-62279065 chr8:62279057-62279065 chr8:62279055-62279062 chr8:62279785-62279794
10	CEBPB	chr8:62279519-62279855	A549	lung:	n/a	chr8:62279677-62279694 chr8:62279680-62279691
11	CEBPB	chr8:62279544-62279773	Hela-S3	cervix:	n/a	chr8:62279677-62279694 chr8:62279680-62279691
12	FOS	chr8:62278852-62279918	MCF10A-Er-Src	breast:	n/a	chr8:62279057-62279066 chr8:62279053-62279064 chr8:62279541-62279549 chr8:62279055-62279067 chr8:62279058-62279065 chr8:62279057-62279065 chr8:62279055-62279062 chr8:62279785-62279794
13	MYC	chr8:62278922-62279826	MCF10A-Er-Src	breast:	n/a	chr8:62279056-62279065
14	JUND	chr8:62279608-62279808	H1-hESC	embryonic stem cell:	n/a	chr8:62279785-62279794
15	GABPA	chr8:62279523-62279853	HL-60	blood:	n/a	n/a
16	CEBPB	chr8:62279433-62279854	A549	lung:	n/a	chr8:62279677-62279694 chr8:62279680-62279691
17	CEBPB	chr8:62279520-62279865	HepG2	liver:	n/a	chr8:62279677-62279694 chr8:62279680-62279691
18	JUN	chr8:62279690-62279867	H1-hESC	embryonic stem cell:	n/a	chr8:62279785-62279794
19	FOS	chr8:62278288-62280006	MCF10A-Er-Src	breast:	n/a	chr8:62279057-62279066 chr8:62279053-62279064 chr8:62279541-62279549 chr8:62279055-62279067 chr8:62279058-62279065 chr8:62279057-62279065 chr8:62279055-62279062 chr8:62279785-62279794
20	CEBPB	chr8:62279517-62279810	IMR90	lung:	n/a	chr8:62279677-62279694 chr8:62279680-62279691

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62278733..62281370-chr8:62291248..62293763,2	K562	blood:

Variant related genes	Relation type
CLVS1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10093364	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10094365	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10098539	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10098755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10098885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10099169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10100364	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10111649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10111651	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10112069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10957192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12546667	0.82[ASN][1000 genomes]
rs12675558	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12676622	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679865	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371744	0.84[CHB][hapmap]
rs16927201	1.00[ASN][1000 genomes]
rs16927234	0.98[ASN][1000 genomes]
rs16927237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16927280	0.95[ASN][1000 genomes]
rs16927291	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16927299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17775880	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822032	0.83[CHB][hapmap]
rs1873888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs1992331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1992333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2201261	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2220766	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2610519	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs28419747	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28477525	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28533992	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28886409	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3864676	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4147444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4147445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4147446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4395891	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs4737586	0.92[ASN][1000 genomes]
rs4738885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738886	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738887	0.92[ASN][1000 genomes]
rs4738888	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4738889	0.93[ASN][1000 genomes]
rs56079904	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56161034	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59241236	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62524926	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6471949	0.98[ASN][1000 genomes]
rs6983659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6987161	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6994804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998442	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs72657057	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7386996	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7820685	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7836228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv831336	chr8:62188396-62364873	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62270800-62290200	Weak transcription	Fetal Brain Female	brain
2	chr8:62278200-62280200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:62278400-62280400	Enhancers	Adipose Nuclei	Adipose
4	chr8:62278600-62280200	Weak transcription	Fetal Brain Male	brain
5	chr8:62278800-62280400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:62279000-62280200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:62279000-62280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:62279600-62280000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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