Variant report

Variant	rs57183264
Chromosome Location	chr8:121821453-121821454
allele	A/G
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	RCOR1	chr8:121820880-121822431	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr8:121820943-121822752	GM12878	blood:	n/a	n/a
5	ARID3A	chr8:121820764-121822910	HepG2	liver:	n/a	n/a
6	MXI1	chr8:121821351-121822916	GM12878	blood:	n/a	chr8:121821943-121821952
7	SIN3A	chr8:121821403-121821570	GM12878	blood:	n/a	n/a
8	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
9	CHD2	chr8:121821398-121822802	GM12878	blood:	n/a	n/a
10	MBD4	chr8:121820544-121823336	HepG2	liver:	n/a	n/a
11	SMC3	chr8:121820765-121821538	HepG2	liver:	n/a	chr8:121821033-121821043 chr8:121821029-121821043
12	ZNF143	chr8:121820857-121821764	GM12878	blood:	n/a	n/a
13	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
15	TBP	chr8:121820803-121822876	GM12878	blood:	n/a	n/a
16	CTCF	chr8:121820820-121821480	IMR90	lung:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
17	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
18	EBF1	chr8:121820847-121823655	GM12878	blood:	n/a	chr8:121822673-121822684
19	POLR2A	chr8:121820945-121821657	HepG2	liver:	n/a	n/a
20	MAZ	chr8:121820883-121823587	GM12878	blood:	n/a	chr8:121822162-121822171
21	EP300	chr8:121820984-121822769	GM12878	blood:	n/a	chr8:121822508-121822522 chr8:121822020-121822030 chr8:121822246-121822255 chr8:121821644-121821658 chr8:121821784-121821798
22	RUNX3	chr8:121821321-121821832	GM12878	blood:	n/a	chr8:121821591-121821600 chr8:121821591-121821600
23	IKZF1	chr8:121821316-121822517	GM12878	blood:	n/a	n/a
24	SMC3	chr8:121820636-121821841	SK-N-SH	brain:	n/a	chr8:121821033-121821043 chr8:121821029-121821043
25	STAT1	chr8:121821418-121821652	GM12878	blood:	n/a	n/a
26	RFX5	chr8:121820827-121821693	GM12878	blood:	n/a	n/a
27	ELK1	chr8:121821045-121821615	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:121820882-121823259	PBDE	blood:	n/a	n/a
29	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
30	CUX1	chr8:121821035-121822553	GM12878	blood:	n/a	n/a
31	MEF2C	chr8:121821252-121821837	GM12878	blood:	n/a	chr8:121821815-121821836 chr8:121821744-121821759
32	EP300	chr8:121821298-121822852	GM12878	blood:	n/a	chr8:121822508-121822522 chr8:121822020-121822030 chr8:121822246-121822255 chr8:121821644-121821658 chr8:121821784-121821798
33	MAX	chr8:121820880-121821506	GM12878	blood:	n/a	n/a
34	E2F4	chr8:121821427-121821457	GM12878	blood:	n/a	n/a
35	MBD4	chr8:121821193-121821705	HepG2	liver:	n/a	n/a
36	GATA1	chr8:121821013-121823086	PBDE	blood:	n/a	n/a
37	TBP	chr8:121821331-121823934	HepG2	liver:	n/a	n/a
38	CTCF	chr8:121821440-121821590	HCPEpiC	choroid plexus:	n/a	n/a
39	HEY1	chr8:121820462-121821667	HepG2	liver:	n/a	n/a
40	FOXA2	chr8:121820666-121822764	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
42	RELA	chr8:121821349-121822706	GM19099	blood:	n/a	n/a
43	CTCF	chr8:121821340-121821490	HPAF	blood vessel:	n/a	n/a
44	NFIC	chr8:121821327-121822438	GM12878	blood:	n/a	n/a
45	CTCF	chr8:121820537-121821681	A549	lung:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
46	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
47	WRNIP1	chr8:121820852-121821620	GM12878	blood:	n/a	n/a
48	RELA	chr8:121821006-121822424	GM12878	blood:	n/a	n/a
49	RAD21	chr8:121820830-121821666	GM12878	blood:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
50	MYBL2	chr8:121820696-121823771	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:121820782..121821507-chr8:121968793..121969488,2	MCF-7	breast:
2	chr8:121820504..121821998-chr8:121950958..121951966,14	MCF-7	breast:
3	chr8:121820684..121821811-chr8:121951035..121951836,4	MCF-7	breast:
4	chr8:121777510..121779524-chr8:121820645..121822626,2	MCF-7	breast:
5	chr8:121820905..121821755-chr8:121862259..121862768,2	MCF-7	breast:
6	chr8:121820968..121821651-chr8:121880472..121881467,2	MCF-7	breast:
7	chr8:121820878..121821805-chr8:121881097..121881747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272502	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10094974	1.00[EUR][1000 genomes]
rs10110929	1.00[EUR][1000 genomes]
rs11987096	1.00[EUR][1000 genomes]
rs11987139	1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11987295	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[EUR][1000 genomes]
rs12334938	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]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6983952	1.00[EUR][1000 genomes]
rs6990646	1.00[EUR][1000 genomes]
rs6990988	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]
rs7829568	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:104 , 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	chr8:121817200-121822000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:121819200-121823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:121819600-121821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:121819600-121822000	Enhancers	Fetal Lung	lung
6	chr8:121819800-121821600	Flanking Active TSS	Liver	Liver
7	chr8:121820000-121822000	Weak transcription	Gastric	stomach
8	chr8:121820000-121822000	Weak transcription	Lung	lung
9	chr8:121820000-121822600	Weak transcription	Spleen	Spleen
10	chr8:121820600-121821600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:121820600-121821600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr8:121820600-121821600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr8:121820600-121821600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr8:121820600-121821600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr8:121820600-121822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:121820600-121822600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr8:121820600-121823400	Active TSS	Stomach Smooth Muscle	stomach
18	chr8:121820600-121823400	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:121820600-121824000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:121820800-121821600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:121820800-121821600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr8:121820800-121821800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:121820800-121821800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:121820800-121822000	Enhancers	NH-A	brain
27	chr8:121820800-121822200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121820800-121822200	Flanking Active TSS	Osteobl	bone
29	chr8:121820800-121822600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr8:121820800-121822600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:121820800-121822800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:121820800-121822800	Enhancers	Stomach Mucosa	stomach
33	chr8:121820800-121823000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr8:121820800-121823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:121820800-121823400	Active TSS	Colonic Mucosa	Colon
36	chr8:121820800-121824600	Active TSS	Rectal Smooth Muscle	rectum
37	chr8:121820800-121824600	Active TSS	NHLF	lung
38	chr8:121820800-121824800	Active TSS	Right Atrium	heart
39	chr8:121820800-121824800	Active TSS	HSMMtube	muscle
40	chr8:121821000-121821600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr8:121821000-121821600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr8:121821000-121821600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr8:121821000-121821800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:121821000-121822000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:121821000-121822000	Active TSS	Brain Hippocampus Middle	brain
46	chr8:121821000-121822000	Enhancers	Placenta	Placenta
47	chr8:121821000-121822000	Active TSS	Left Ventricle	heart
48	chr8:121821000-121822000	Active TSS	Pancreas	Pancrea
49	chr8:121821000-121822000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:121821000-121822800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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