Variant report

Variant	rs6983952
Chromosome Location	chr8:121823379-121823380
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	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	MAX	chr8:121823253-121823896	NB4	blood:	n/a	n/a
3	POLR2A	chr8:121823361-121824672	GM18951	blood:	n/a	n/a
4	POLR2A	chr8:121821861-121823459	U87	brain:	n/a	n/a
5	ELF1	chr8:121823320-121823851	GM12878	blood:	n/a	n/a
6	MAX	chr8:121823231-121824784	MCF-7	breast:	n/a	chr8:121824141-121824151
7	E2F6	chr8:121823299-121825046	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
8	POLR2A	chr8:121821718-121824797	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:121823272-121823633	HepG2	liver:	n/a	chr8:121823397-121823407
10	ARID3A	chr8:121823133-121823596	HepG2	liver:	n/a	n/a
11	CTBP2	chr8:121823374-121824028	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr8:121823255-121823688	HepG2	liver:	n/a	chr8:121823397-121823407
13	MAX	chr8:121823371-121823712	GM12878	blood:	n/a	n/a
14	MAX	chr8:121823195-121824880	H1-hESC	embryonic stem cell:	n/a	chr8:121824141-121824151
15	MXI1	chr8:121823366-121823719	GM12878	blood:	n/a	n/a
16	MAX	chr8:121822889-121823752	HepG2	liver:	n/a	n/a
17	MXI1	chr8:121821733-121824850	HepG2	liver:	n/a	chr8:121821943-121821952
18	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
19	POLR2A	chr8:121823159-121824066	HepG2	liver:	n/a	n/a
20	MAX	chr8:121823328-121823616	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr8:121823130-121823711	HepG2	liver:	n/a	n/a
22	NFIC	chr8:121821474-121823786	HepG2	liver:	n/a	n/a
23	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
24	CEBPD	chr8:121823161-121823642	HepG2	liver:	n/a	n/a
25	FOXA1	chr8:121823274-121823629	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
27	JUND	chr8:121823320-121823692	HepG2	liver:	n/a	chr8:121823372-121823381 chr8:121823373-121823382
28	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
29	EBF1	chr8:121820847-121823655	GM12878	blood:	n/a	chr8:121822673-121822684
30	YY1	chr8:121823216-121824791	HepG2	liver:	n/a	chr8:121824483-121824497 chr8:121824073-121824093 chr8:121824611-121824622
31	MAZ	chr8:121820883-121823587	GM12878	blood:	n/a	chr8:121822162-121822171
32	POLR2A	chr8:121821944-121824445	IMR90	lung:	n/a	n/a
33	CHD2	chr8:121823325-121823582	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:121823205-121824840	NB4	blood:	n/a	n/a
35	CHD2	chr8:121822612-121823819	HepG2	liver:	n/a	n/a
36	REST	chr8:121821644-121823951	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr8:121823379-121823593	HepG2	liver:	n/a	n/a
38	HDAC2	chr8:121823150-121823679	HepG2	liver:	n/a	n/a
39	RCOR1	chr8:121821486-121823676	HepG2	liver:	n/a	n/a
40	ZBTB7A	chr8:121823275-121823571	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:121823377-121823630	H1-neurons	neurons:	n/a	n/a
42	TAF1	chr8:121823086-121824874	HepG2	liver:	n/a	n/a
43	TAF1	chr8:121823137-121824819	HepG2	liver:	n/a	n/a
44	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
45	E2F6	chr8:121823189-121825093	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
46	TCF12	chr8:121823257-121823687	ECC-1	luminal epithelium:	n/a	n/a
47	TCF12	chr8:121823322-121823592	GM12878	blood:	n/a	n/a
48	MYBL2	chr8:121821673-121823814	HepG2	liver:	n/a	n/a
49	FOSL2	chr8:121823244-121823713	HepG2	liver:	n/a	chr8:121823372-121823381 chr8:121823373-121823382
50	TBP	chr8:121821331-121823934	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000272502	TF binding region

Extended variants
information (count: 33 )
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	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];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]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6990646	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990988	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];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:5 , 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
4	esv3323996	chr8:121822996-121825544	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3377739	chr8:121823171-121825169	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121819200-121823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:121820600-121823400	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:121820600-121823400	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:121820600-121824000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:121820800-121823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:121820800-121823400	Active TSS	Colonic Mucosa	Colon
9	chr8:121820800-121824600	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:121820800-121824600	Active TSS	NHLF	lung
11	chr8:121820800-121824800	Active TSS	Right Atrium	heart
12	chr8:121820800-121824800	Active TSS	HSMMtube	muscle
13	chr8:121821000-121823400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr8:121821000-121823400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr8:121821000-121823600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:121821000-121824000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr8:121821000-121824200	Active TSS	Fetal Muscle Leg	muscle
18	chr8:121821000-121824600	Active TSS	Primary T cells fromperipheralblood	blood
19	chr8:121821000-121824600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr8:121821000-121824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:121821000-121824800	Active TSS	Aorta	Aorta
22	chr8:121821000-121824800	Active TSS	NHDF-Ad	bronchial
23	chr8:121821200-121824600	Active TSS	Psoas Muscle	Psoas
24	chr8:121821400-121823400	Active TSS	Right Ventricle	heart
25	chr8:121821400-121824400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:121821400-121824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:121821400-121824600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:121821400-121824600	Active TSS	Brain Substantia Nigra	brain
29	chr8:121821400-121824600	Active TSS	Colon Smooth Muscle	Colon
30	chr8:121821400-121824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr8:121821400-121824800	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:121821600-121824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:121821600-121824400	Active TSS	HSMM	muscle
34	chr8:121821600-121824600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:121821600-121824600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr8:121821800-121823400	Flanking Active TSS	Fetal Thymus	thymus
37	chr8:121821800-121823600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:121821800-121823800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:121821800-121824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:121822000-121823400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:121822000-121823800	Flanking Active TSS	Placenta	Placenta
42	chr8:121822000-121824000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:121822000-121824600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:121822000-121824800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:121822000-121824800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:121822000-121824800	Active TSS	Gastric	stomach
47	chr8:121822000-121824800	Active TSS	Lung	lung
48	chr8:121822200-121823800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr8:121822200-121823800	Bivalent/Poised TSS	HepG2	liver
50	chr8:121822200-121824400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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