Variant report

Variant	rs7829568
Chromosome Location	chr8:121822788-121822789
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	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	FOXA1	chr8:121820811-121822873	HepG2	liver:	n/a	n/a
3	POU2F2	chr8:121821840-121822906	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:121821861-121823459	U87	brain:	n/a	n/a
5	EP300	chr8:121821636-121822792	HepG2	liver:	n/a	chr8:121822508-121822522 chr8:121822020-121822030 chr8:121822246-121822255 chr8:121821644-121821658 chr8:121821784-121821798
6	CEBPD	chr8:121822703-121823033	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:121822761-121823277	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:121821718-121824797	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOXA1	chr8:121821663-121822853	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:121820764-121822910	HepG2	liver:	n/a	n/a
11	MXI1	chr8:121821351-121822916	GM12878	blood:	n/a	chr8:121821943-121821952
12	MXI1	chr8:121821733-121824850	HepG2	liver:	n/a	chr8:121821943-121821952
13	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
14	NFIC	chr8:121821474-121823786	HepG2	liver:	n/a	n/a
15	CHD2	chr8:121821398-121822802	GM12878	blood:	n/a	n/a
16	MBD4	chr8:121820544-121823336	HepG2	liver:	n/a	n/a
17	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:121821841-121822939	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
20	TBP	chr8:121820803-121822876	GM12878	blood:	n/a	n/a
21	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
22	MAX	chr8:121822516-121823100	GM12878	blood:	n/a	n/a
23	EBF1	chr8:121820847-121823655	GM12878	blood:	n/a	chr8:121822673-121822684
24	MAZ	chr8:121820883-121823587	GM12878	blood:	n/a	chr8:121822162-121822171
25	POLR2A	chr8:121821944-121824445	IMR90	lung:	n/a	n/a
26	KAP1	chr8:121821952-121823100	U2OS	brain:	n/a	chr8:121822810-121822818
27	CHD2	chr8:121822612-121823819	HepG2	liver:	n/a	n/a
28	REST	chr8:121821644-121823951	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:121820882-121823259	PBDE	blood:	n/a	n/a
30	MAZ	chr8:121821706-121822828	HepG2	liver:	n/a	chr8:121822162-121822171
31	SIN3A	chr8:121821929-121823212	H1-hESC	embryonic stem cell:	n/a	n/a
32	EBF1	chr8:121822519-121822833	GM12878	blood:	n/a	chr8:121822673-121822684
33	TAF1	chr8:121822591-121822979	H1-hESC	embryonic stem cell:	n/a	n/a
34	RCOR1	chr8:121821486-121823676	HepG2	liver:	n/a	n/a
35	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:121822678-121822869	HepG2	liver:	n/a	n/a
37	EP300	chr8:121821298-121822852	GM12878	blood:	n/a	chr8:121822508-121822522 chr8:121822020-121822030 chr8:121822246-121822255 chr8:121821644-121821658 chr8:121821784-121821798
38	MYBL2	chr8:121821673-121823814	HepG2	liver:	n/a	n/a
39	GATA1	chr8:121821013-121823086	PBDE	blood:	n/a	n/a
40	TBP	chr8:121821331-121823934	HepG2	liver:	n/a	n/a
41	WRNIP1	chr8:121821974-121823178	GM12878	blood:	n/a	n/a
42	CTCF	chr8:121822640-121822790	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
44	MBD4	chr8:121821707-121823669	HepG2	liver:	n/a	n/a
45	EP300	chr8:121821777-121823612	HepG2	liver:	n/a	chr8:121822508-121822522 chr8:121822020-121822030 chr8:121822246-121822255 chr8:121821784-121821798
46	POLR2A	chr8:121821809-121822811	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
48	FOXA1	chr8:121821663-121822886	HepG2	liver:	n/a	n/a
49	RAD21	chr8:121822514-121823239	IMR90	lung:	n/a	n/a
50	POLR2A	chr8:121821819-121824069	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000272502	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10094974	1.00[EUR][1000 genomes]
rs10110929	1.00[EUR][1000 genomes]
rs11987096	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11987139	1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11987295	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11994211	1.00[EUR][1000 genomes]
rs11997726	1.00[EUR][1000 genomes]
rs12334417	1.00[EUR][1000 genomes]
rs12334422	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12334938	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12334939	1.00[EUR][1000 genomes]
rs28375696	1.00[EUR][1000 genomes]
rs28680434	1.00[EUR][1000 genomes]
rs28682880	1.00[EUR][1000 genomes]
rs34459319	1.00[EUR][1000 genomes]
rs4545142	1.00[EUR][1000 genomes]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6983952	1.00[EUR][1000 genomes]
rs6985486	1.00[TSI][hapmap]
rs6990646	1.00[EUR][1000 genomes]
rs6990988	0.83[ASW][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73323171	1.00[EUR][1000 genomes]
rs73323176	1.00[EUR][1000 genomes]
rs73323186	1.00[EUR][1000 genomes]
rs7459773	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121815000-121822800	Weak transcription	Small Intestine	intestine
2	chr8:121819200-121823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:121820600-121823400	Active TSS	Stomach Smooth Muscle	stomach
4	chr8:121820600-121823400	Flanking Active TSS	GM12878-XiMat	blood
5	chr8:121820600-121824000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:121820800-121822800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:121820800-121822800	Enhancers	Stomach Mucosa	stomach
10	chr8:121820800-121823000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr8:121820800-121823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:121820800-121823400	Active TSS	Colonic Mucosa	Colon
13	chr8:121820800-121824600	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:121820800-121824600	Active TSS	NHLF	lung
15	chr8:121820800-121824800	Active TSS	Right Atrium	heart
16	chr8:121820800-121824800	Active TSS	HSMMtube	muscle
17	chr8:121821000-121822800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:121821000-121823200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr8:121821000-121823400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr8:121821000-121823400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr8:121821000-121823600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:121821000-121824000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr8:121821000-121824200	Active TSS	Fetal Muscle Leg	muscle
24	chr8:121821000-121824600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr8:121821000-121824600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr8:121821000-121824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:121821000-121824800	Active TSS	Aorta	Aorta
28	chr8:121821000-121824800	Active TSS	NHDF-Ad	bronchial
29	chr8:121821200-121823200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:121821200-121823200	Active TSS	Fetal Muscle Trunk	muscle
31	chr8:121821200-121823200	Flanking Active TSS	Thymus	Thymus
32	chr8:121821200-121824600	Active TSS	Psoas Muscle	Psoas
33	chr8:121821400-121823400	Active TSS	Right Ventricle	heart
34	chr8:121821400-121824400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:121821400-121824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:121821400-121824600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:121821400-121824600	Active TSS	Brain Substantia Nigra	brain
38	chr8:121821400-121824600	Active TSS	Colon Smooth Muscle	Colon
39	chr8:121821400-121824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:121821400-121824800	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr8:121821600-121824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr8:121821600-121824400	Active TSS	HSMM	muscle
43	chr8:121821600-121824600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:121821600-121824600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr8:121821800-121823000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr8:121821800-121823000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:121821800-121823000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:121821800-121823200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr8:121821800-121823200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:121821800-121823400	Flanking Active TSS	Fetal Thymus	thymus

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