Variant report

Variant	rs73691192
Chromosome Location	chr8:67975896-67975897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:183)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67973787-67977788	MCF10A-Er-Src	breast:	n/a	n/a
2	CUX1	chr8:67975789-67976123	K562	blood:	n/a	n/a
3	CTCF	chr8:67975604-67977953	A549	lung:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
4	POLR2A	chr8:67975887-67975946	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr8:67973836-67977504	NB4	blood:	n/a	chr8:67975164-67975173 chr8:67976548-67976558 chr8:67975165-67975172
6	MYC	chr8:67973766-67975906	K562	blood:	n/a	chr8:67975164-67975173 chr8:67975165-67975172
7	MAZ	chr8:67975854-67976882	HepG2	liver:	n/a	chr8:67976548-67976558
8	MAFK	chr8:67975771-67976639	K562	blood:	n/a	chr8:67976048-67976063
9	EP300	chr8:67975589-67976069	K562	blood:	n/a	n/a
10	HEY1	chr8:67974052-67975939	HepG2	liver:	n/a	n/a
11	MYC	chr8:67973917-67977646	NB4	blood:	n/a	chr8:67975164-67975173 chr8:67976548-67976558 chr8:67975165-67975172
12	POLR2A	chr8:67974003-67975974	K562	blood:	n/a	n/a
13	CEBPB	chr8:67975305-67975947	K562	blood:	n/a	chr8:67975570-67975581
14	CEBPB	chr8:67975296-67976097	A549	lung:	n/a	chr8:67975570-67975581
15	POLR2A	chr8:67971430-67977567	K562	blood:	n/a	n/a
16	POLR2A	chr8:67973813-67977399	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr8:67975412-67977154	A549	lung:	n/a	chr8:67976507-67976517
18	HCFC1	chr8:67973439-67977496	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr8:67975853-67976968	PFSK-1	brain:	n/a	n/a
20	RUNX3	chr8:67975576-67975979	GM12878	blood:	n/a	n/a
21	ARID3A	chr8:67975671-67975963	K562	blood:	n/a	n/a
22	POLR2A	chr8:67973870-67976986	HL-60	blood:	n/a	n/a
23	POLR2A	chr8:67973440-67977421	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr8:67973944-67977161	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:67975836-67976886	HCT-116	colon:	n/a	n/a
26	POLR2A	chr8:67973731-67977047	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:67975850-67977066	K562	blood:	n/a	chr8:67976532-67976548
28	UBTF	chr8:67975854-67976017	K562	blood:	n/a	n/a
29	CEBPB	chr8:67975388-67975969	A549	lung:	n/a	chr8:67975570-67975581
30	RCOR1	chr8:67975770-67977672	K562	blood:	n/a	n/a
31	POLR2A	chr8:67973782-67975918	K562	blood:	n/a	n/a
32	MXI1	chr8:67975896-67977899	SK-N-SH	brain:	n/a	n/a
33	TBL1XR1	chr8:67975665-67977485	K562	blood:	n/a	n/a
34	TBL1XR1	chr8:67975880-67976763	K562	blood:	n/a	n/a
35	POLR2A	chr8:67973760-67975949	K562	blood:	n/a	n/a
36	POLR2A	chr8:67975721-67977459	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:67973784-67977480	K562	blood:	n/a	n/a
38	GTF3C2	chr8:67974287-67975934	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr8:67975895-67977399	K562	blood:	n/a	n/a
40	UBTF	chr8:67975406-67975904	K562	blood:	n/a	n/a
41	POLR2A	chr8:67975803-67977504	HepG2	liver:	n/a	n/a
42	CTCF	chr8:67975650-67977535	SK-N-SH	brain:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
43	POLR2A	chr8:67973888-67977407	NB4	blood:	n/a	n/a
44	CUX1	chr8:67975803-67975904	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67975874-67975924	Caco-2	colon:	n/a
2	chr8:67975895-67975945	AG09319	gingival:	n/a
3	chr8:67975895-67975945	A549	lung:	n/a
4	chr8:67975880-67975930	HCPEpiC	choroid plexus:	n/a
5	chr8:67975880-67975930	T-47D	breast:	n/a
6	chr8:67975880-67975930	NT2-D1	testis:	n/a
7	chr8:67975895-67975945	U87	brain:	n/a
8	chr8:67975874-67975924	HCPEpiC	choroid plexus:	n/a
9	chr8:67975895-67975945	NH-A	brain:	n/a
10	chr8:67975880-67975930	GM12878	blood:	n/a
11	chr8:67975895-67975945	HMEC	breast:	n/a
12	chr8:67975895-67975945	HCPEpiC	choroid plexus:	n/a
13	chr8:67975874-67975924	HEK293	kidney:	embryo
14	chr8:67975880-67975930	SKMC	muscle:	n/a
15	chr8:67975895-67975945	AG09309	skin:	n/a
16	chr8:67975895-67975945	Caco-2	colon:	n/a
17	chr8:67975880-67975930	ECC-1	luminal epithelium:	n/a
18	chr8:67975880-67975930	AG09319	gingival:	n/a
19	chr8:67975895-67975945	PFSK-1	brain:	n/a
20	chr8:67975874-67975924	GM12892	blood:	n/a
21	chr8:67975880-67975930	BJ	skin:	n/a
22	chr8:67975880-67975930	HEEpiC	esophagus:	n/a
23	chr8:67975874-67975924	NHBE	bronchial:	n/a
24	chr8:67975880-67975930	K562	blood:	n/a
25	chr8:67975895-67975945	HNPCEpiC	eye:	n/a
26	chr8:67975880-67975930	HEK293	kidney:	embryo
27	chr8:67975895-67975945	LNCaP	prostate:	n/a
28	chr8:67975895-67975945	SK-N-SH_RA	brain:	n/a
29	chr8:67975874-67975924	A549	lung:	n/a
30	chr8:67975874-67975924	HRPEpiC	eye:	n/a
31	chr8:67975895-67975945	MCF10A-Er-Src	breast:	n/a
32	chr8:67975880-67975930	AG09309	skin:	n/a
33	chr8:67975874-67975924	MCF10A-Er-Src	breast:	n/a
34	chr8:67975895-67975945	NHDF-neo	bronchial:	n/a
35	chr8:67975874-67975924	SKMC	muscle:	n/a
36	chr8:67975874-67975924	Hepatocyte	liver:	n/a
37	chr8:67975895-67975945	Jurkat	blood:	n/a
38	chr8:67975895-67975945	HL-60	blood:	n/a
39	chr8:67975874-67975924	GM19239	blood:	n/a
40	chr8:67975880-67975930	A549	lung:	n/a
41	chr8:67975874-67975924	AoSMC	blood vessel:	n/a
42	chr8:67975874-67975924	HCT-116	colon:	n/a
43	chr8:67975874-67975924	K562	blood:	n/a
44	chr8:67975880-67975930	BE2_C	brain:	n/a
45	chr8:67975880-67975930	Hepatocyte	liver:	n/a
46	chr8:67975880-67975930	PrEC	prostate:	n/a
47	chr8:67975895-67975945	HCT-116	colon:	n/a
48	chr8:67975895-67975945	BJ	skin:	n/a
49	chr8:67975880-67975930	AG04449	skin:	fetal
50	chr8:67975874-67975924	NT2-D1	testis:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67586088..67588467-chr8:67974853..67976503,2	K562	blood:
2	chr8:67579804..67582751-chr8:67973278..67976626,5	K562	blood:
3	chr8:67830433..67839604-chr8:67970368..67979371,24	MCF-7	breast:
4	chr8:67828671..67841001-chr8:67968948..67981786,43	K562	blood:
5	chr8:67578996..67582751-chr8:67973027..67976256,4	K562	blood:
6	chr8:67830645..67839054-chr8:67969883..67975997,15	MCF-7	breast:
7	chr8:67866883..67869231-chr8:67974274..67977139,2	K562	blood:
8	chr8:67973427..67978093-chr8:68011189..68018690,8	K562	blood:
9	chr8:67827975..67841001-chr8:67966279..67982243,48	K562	blood:
10	chr8:67523268..67525543-chr8:67973888..67976833,2	MCF-7	breast:

No data

Variant related genes	Relation type
CSPP1	TF binding region
COPS5	TF binding region
CSPP1	CpG island
COPS5	CpG island
ENSG00000261787	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000252637	Chromatin interaction
ENSG00000254341	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986982	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990461	0.85[AMR][1000 genomes]
rs11992605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933160	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.95[EUR][1000 genomes]
rs2305672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28547325	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3779995	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55986624	0.85[EUR][1000 genomes]
rs56101466	0.90[EUR][1000 genomes]
rs56858183	0.85[EUR][1000 genomes]
rs57101332	0.90[EUR][1000 genomes]
rs57867847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58448590	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59335949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634730	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59870074	0.81[EUR][1000 genomes]
rs60324950	0.90[EUR][1000 genomes]
rs60666237	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60894518	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085456	0.85[AMR][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6472289	0.85[AMR][1000 genomes]
rs6982699	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984447	0.85[AMR][1000 genomes]
rs6984568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984650	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	0.90[EUR][1000 genomes]
rs73691182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691186	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693124	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693152	0.90[EUR][1000 genomes]
rs73693153	0.90[EUR][1000 genomes]
rs73693631	0.85[AMR][1000 genomes]
rs73693632	0.85[AMR][1000 genomes]
rs7461383	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815142	0.85[AMR][1000 genomes]
rs7815863	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816827	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7819894	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820403	0.85[AMR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833373	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842770	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846677	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67972000-67978000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67972800-67976000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:67972800-67976200	Active TSS	Psoas Muscle	Psoas
4	chr8:67973000-67978000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:67973200-67976000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr8:67973200-67977600	Active TSS	Colonic Mucosa	Colon
7	chr8:67973400-67976000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr8:67973400-67976200	Active TSS	Pancreas	Pancrea
9	chr8:67973400-67977800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:67973400-67977800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr8:67973400-67978000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:67973400-67978200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr8:67973400-67978400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:67973600-67976000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:67973600-67976000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:67973600-67977800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:67973600-67978200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:67973800-67976000	Active TSS	Stomach Smooth Muscle	stomach
19	chr8:67973800-67977600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:67974000-67976000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:67974000-67977800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:67974200-67976000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:67974400-67977600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:67974800-67976400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr8:67974800-67976400	Flanking Active TSS	Hela-S3	cervix
26	chr8:67974800-67976600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:67974800-67976600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr8:67974800-67976600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr8:67974800-67977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:67974800-67978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:67975000-67976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:67975000-67976200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:67975000-67976200	Weak transcription	Esophagus	oesophagus
34	chr8:67975000-67976200	Weak transcription	Gastric	stomach
35	chr8:67975000-67976200	Weak transcription	Lung	lung
36	chr8:67975000-67976400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr8:67975000-67976400	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr8:67975000-67976400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:67975000-67976400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr8:67975000-67976400	Flanking Active TSS	Dnd41	blood
41	chr8:67975000-67976600	Weak transcription	Spleen	Spleen
42	chr8:67975000-67977800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:67975200-67976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:67975200-67976000	Weak transcription	Fetal Brain Male	brain
45	chr8:67975200-67976000	Weak transcription	Fetal Heart	heart
46	chr8:67975200-67976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:67975200-67976200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:67975200-67976200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:67975200-67976200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:67975200-67976200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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