Variant report

Variant	rs56902942
Chromosome Location	chr8:54935797-54935798
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	YY1	chr8:54935679-54935949	K562	blood:	n/a	n/a
2	JUN	chr8:54934606-54936862	K562	blood:	n/a	chr8:54936237-54936244 chr8:54936235-54936247 chr8:54936237-54936246 chr8:54936129-54936136
3	POLR2A	chr8:54933772-54936292	K562	blood:	n/a	n/a
4	POLR2A	chr8:54935715-54935826	MCF-7	breast:	n/a	n/a
5	ZMIZ1	chr8:54935711-54936203	K562	blood:	n/a	n/a
6	POLR2A	chr8:54934139-54936229	Raji	blood:	n/a	n/a
7	POLR2A	chr8:54935551-54936227	PANC-1	pancreas:	n/a	n/a
8	RCOR1	chr8:54933955-54936293	K562	blood:	n/a	n/a
9	POLR2A	chr8:54935723-54936324	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBL1XR1	chr8:54935751-54936276	K562	blood:	n/a	n/a
11	POLR2A	chr8:54934720-54935895	K562	blood:	n/a	n/a
12	BHLHE40	chr8:54935744-54935845	K562	blood:	n/a	n/a
13	POLR2A	chr8:54935467-54936285	K562	blood:	n/a	n/a
14	POLR2A	chr8:54934101-54936215	K562	blood:	n/a	n/a
15	MAZ	chr8:54935739-54936029	K562	blood:	n/a	n/a
16	POLR2A	chr8:54935750-54935858	MCF-7	breast:	n/a	n/a
17	EP300	chr8:54935664-54936164	K562	blood:	n/a	n/a
18	POLR2A	chr8:54935632-54936258	K562	blood:	n/a	n/a
19	POLR2A	chr8:54934634-54936265	K562	blood:	n/a	n/a
20	JUND	chr8:54935669-54936420	K562	blood:	n/a	chr8:54936237-54936244 chr8:54936235-54936247 chr8:54936237-54936246 chr8:54936129-54936136
21	POLR2A	chr8:54934174-54936297	K562	blood:	n/a	n/a
22	POLR2A	chr8:54935743-54936221	K562	blood:	n/a	n/a
23	POLR2A	chr8:54933945-54936258	K562	blood:	n/a	n/a
24	ELF1	chr8:54935585-54935899	K562	blood:	n/a	chr8:54935806-54935819
25	POLR2A	chr8:54935549-54936158	HCT-116	colon:	n/a	n/a
26	POLR2A	chr8:54933797-54936231	HepG2	liver:	n/a	n/a
27	UBTF	chr8:54933745-54936177	K562	blood:	n/a	n/a
28	POLR2A	chr8:54935789-54936120	H1-hESC	embryonic stem cell:	n/a	n/a
29	TBP	chr8:54934676-54936168	K562	blood:	n/a	n/a
30	ELF1	chr8:54935685-54935950	K562	blood:	n/a	chr8:54935806-54935819
31	ZNF384	chr8:54934814-54936175	K562	blood:	n/a	n/a
32	GTF3C2	chr8:54934886-54936136	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
2	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
3	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
4	chr8:54935168..54936704-chr8:55014471..55015988,2	K562	blood:
5	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
6	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
7	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:
8	chr8:54933970..54936104-chr8:55012695..55015394,2	MCF-7	breast:

Variant related genes	Relation type
TCEA1	TF binding region
ENSG00000137547	Chromatin interaction
ENSG00000120992	Chromatin interaction
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10093311	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095163	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095164	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095679	0.86[EUR][1000 genomes]
rs10096376	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099080	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101289	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102439	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102726	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102905	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112203	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1044604	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112697	0.91[AMR][1000 genomes]
rs1112698	0.91[AMR][1000 genomes]
rs11986605	0.87[AMR][1000 genomes]
rs11988830	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988859	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993180	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994366	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	0.91[AMR][1000 genomes]
rs11998659	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919750	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919924	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28369337	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28379732	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397021	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28412019	1.00[EUR][1000 genomes]
rs28413072	0.87[AMR][1000 genomes]
rs28431894	0.86[EUR][1000 genomes]
rs28507589	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533970	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28565202	1.00[EUR][1000 genomes]
rs28707072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28736685	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759114	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704212	0.91[AMR][1000 genomes]
rs55781183	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55864901	0.91[AMR][1000 genomes]
rs56087054	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57093383	0.91[AMR][1000 genomes]
rs58515879	0.91[AMR][1000 genomes]
rs58595525	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59087284	0.91[AMR][1000 genomes]
rs59114404	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59277432	0.91[AMR][1000 genomes]
rs59387379	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60186893	0.91[AMR][1000 genomes]
rs60672236	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60805450	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6473899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473901	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473902	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473903	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473905	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473906	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473907	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473908	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981386	0.91[AMR][1000 genomes]
rs6983650	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983958	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984119	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989211	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992073	0.91[AMR][1000 genomes]
rs7001391	0.91[AMR][1000 genomes]
rs7003793	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004808	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005653	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007028	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007031	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007176	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008593	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7014036	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016108	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018089	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018355	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589273	1.00[EUR][1000 genomes]
rs73589277	0.86[EUR][1000 genomes]
rs73589286	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73589295	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590817	0.93[EUR][1000 genomes]
rs73679588	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679589	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679596	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679602	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681304	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681305	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681307	0.91[AMR][1000 genomes]
rs73681308	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73681309	0.91[AMR][1000 genomes]
rs73681805	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681806	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815998	0.91[AMR][1000 genomes]
rs7822750	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823234	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824355	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824979	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7833336	0.91[AMR][1000 genomes]
rs7834757	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836760	0.91[AMR][1000 genomes]
rs7839276	0.87[AMR][1000 genomes]
rs7844291	0.91[AMR][1000 genomes]
rs7844299	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844390	0.86[EUR][1000 genomes]
rs7846650	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9771960	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918912	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3451858	chr8:54933899-54935947	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54932200-54936000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr8:54932400-54935800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:54932400-54936000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:54933000-54935800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:54933200-54935800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:54933200-54935800	Active TSS	Right Ventricle	heart
7	chr8:54933200-54935800	Active TSS	HMEC	breast
8	chr8:54933200-54936000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:54933400-54935800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:54933400-54935800	Active TSS	NHEK	skin
11	chr8:54933400-54936000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:54933400-54936000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:54933400-54936000	Active TSS	Brain Anterior Caudate	brain
14	chr8:54933400-54936000	Active TSS	K562	blood
15	chr8:54933400-54936200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:54933400-54936200	Active TSS	A549	lung
17	chr8:54933400-54936400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:54933600-54936000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:54933800-54936000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:54934000-54935800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:54934000-54936000	Active TSS	Liver	Liver
22	chr8:54934200-54935800	Active TSS	Adipose Nuclei	Adipose
23	chr8:54934600-54935800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:54935400-54935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:54935400-54936000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:54935400-54936000	Flanking Active TSS	Dnd41	blood
27	chr8:54935400-54962800	Weak transcription	HSMMtube	muscle
28	chr8:54935600-54935800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:54935600-54935800	Enhancers	Fetal Stomach	stomach
30	chr8:54935600-54935800	Weak transcription	Hela-S3	cervix
31	chr8:54935600-54936000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:54935600-54936000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:54935600-54936000	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:54935600-54936000	Flanking Active TSS	Placenta	Placenta
35	chr8:54935600-54936000	Enhancers	Fetal Thymus	thymus
36	chr8:54935600-54936000	Enhancers	GM12878-XiMat	blood
37	chr8:54935600-54936000	Weak transcription	HepG2	liver
38	chr8:54935600-54936200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:54935600-54946000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:54935600-54954600	Weak transcription	HSMM	muscle
41	chr8:54935600-54955600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:54935600-54956600	Weak transcription	Pancreas	Pancrea
43	chr8:54935600-54956600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:54935600-54956600	Weak transcription	HUVEC	blood vessel
45	chr8:54935600-54963000	Weak transcription	Thymus	Thymus

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