Variant report

Variant	rs55662680
Chromosome Location	chr8:67978552-67978553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr8:67978442-67978926	K562	blood:	n/a	chr8:67978796-67978803
2	IRF1	chr8:67978504-67978796	K562	blood:	n/a	chr8:67978657-67978671
3	TBL1XR1	chr8:67978384-67978863	K562	blood:	n/a	n/a
4	MAX	chr8:67978420-67978850	K562	blood:	n/a	n/a
5	E2F6	chr8:67978518-67978754	K562	blood:	n/a	n/a
6	MYC	chr8:67978512-67978853	K562	blood:	n/a	n/a
7	CCNT2	chr8:67978481-67978771	K562	blood:	n/a	chr8:67978661-67978670
8	MAFF	chr8:67978537-67978876	K562	blood:	n/a	n/a
9	TEAD4	chr8:67978397-67978951	K562	blood:	n/a	n/a
10	TBP	chr8:67978521-67978717	K562	blood:	n/a	n/a
11	POLR2A	chr8:67978419-67978870	K562	blood:	n/a	n/a
12	RCOR1	chr8:67978374-67978887	K562	blood:	n/a	n/a
13	MAZ	chr8:67978500-67978826	K562	blood:	n/a	n/a
14	ARID3A	chr8:67978020-67978928	K562	blood:	n/a	n/a
15	TAL1	chr8:67978386-67978935	K562	blood:	n/a	n/a
16	RCOR1	chr8:67977934-67978829	K562	blood:	n/a	n/a
17	MYC	chr8:67978439-67978841	K562	blood:	n/a	n/a
18	EP300	chr8:67978298-67978922	K562	blood:	n/a	n/a
19	CHD2	chr8:67978489-67978840	K562	blood:	n/a	chr8:67978661-67978671
20	TBL1XR1	chr8:67978201-67978905	K562	blood:	n/a	n/a
21	MAX	chr8:67978421-67978841	K562	blood:	n/a	n/a
22	MXI1	chr8:67978506-67978813	K562	blood:	n/a	n/a
23	JUND	chr8:67978411-67978793	K562	blood:	n/a	n/a
24	MAX	chr8:67978522-67978649	NB4	blood:	n/a	n/a
25	RFX5	chr8:67978537-67978769	K562	blood:	n/a	n/a
26	ZMIZ1	chr8:67978455-67978830	K562	blood:	n/a	n/a
27	POLR2A	chr8:67978403-67978887	K562	blood:	n/a	n/a
28	TEAD4	chr8:67978463-67978940	K562	blood:	n/a	n/a
29	MAX	chr8:67978490-67978860	K562	blood:	n/a	n/a
30	CBX3	chr8:67978352-67978930	K562	blood:	n/a	n/a
31	MAFK	chr8:67978447-67978681	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67977500..67979616-chr8:68012864..68015307,2	MCF-7	breast:
2	chr8:67830433..67839604-chr8:67970368..67979371,24	MCF-7	breast:
3	chr8:67978540..67980056-chr8:67997064..67998672,2	K562	blood:
4	chr8:67828671..67841001-chr8:67968948..67981786,43	K562	blood:
5	chr8:67827975..67841001-chr8:67966279..67982243,48	K562	blood:
6	chr8:67977046..67978803-chr8:67992749..67996349,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R42-1	chr8:67978510-67978620	NONHSAT127077

No data

Variant related genes	Relation type
COPS5	TF binding region
ENSG00000254341	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000104218	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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986982	0.87[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	0.91[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	0.83[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933160	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.87[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	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2305672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.92[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]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58448590	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59335949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634730	0.92[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	0.90[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	0.95[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.95[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	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691186	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693124	0.92[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	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.82[AFR][1000 genomes];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	0.90[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	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.95[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977600-67978600	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr8:67977600-67978800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:67977600-67978800	Enhancers	Fetal Thymus	thymus
4	chr8:67977600-67989400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:67977600-67989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:67977600-67998200	Weak transcription	Gastric	stomach
7	chr8:67977800-67978600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:67977800-67978600	Enhancers	Primary T cells from cord blood	blood
9	chr8:67977800-67978600	Enhancers	Fetal Heart	heart
10	chr8:67977800-67978600	Enhancers	Ovary	ovary
11	chr8:67977800-67978600	Enhancers	Psoas Muscle	Psoas
12	chr8:67977800-67978600	Enhancers	Thymus	Thymus
13	chr8:67977800-67978600	Enhancers	HepG2	liver
14	chr8:67977800-67978600	Flanking Active TSS	NHLF	lung
15	chr8:67977800-67978800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:67977800-67978800	Flanking Active TSS	K562	blood
17	chr8:67977800-67979000	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:67977800-67986600	Weak transcription	Fetal Intestine Large	intestine
19	chr8:67977800-67986800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:67977800-67987200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:67977800-67987400	Weak transcription	Primary B cells from cord blood	blood
22	chr8:67977800-67987400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:67977800-68009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:67977800-68010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:67978000-67978600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:67978000-67978600	Enhancers	Brain Substantia Nigra	brain
30	chr8:67978000-67978600	Enhancers	Placenta	Placenta
31	chr8:67978000-67978600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:67978000-67978600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr8:67978000-67978800	Enhancers	Colon Smooth Muscle	Colon
34	chr8:67978000-67978800	Enhancers	Right Ventricle	heart
35	chr8:67978000-67979400	Enhancers	Pancreas	Pancrea
36	chr8:67978000-67986400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:67978000-67987000	Weak transcription	Fetal Stomach	stomach
38	chr8:67978000-67987200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:67978000-67987200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:67978000-67987400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:67978000-67987600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:67978000-67989400	Weak transcription	Small Intestine	intestine
43	chr8:67978000-67995400	Weak transcription	Colonic Mucosa	Colon
44	chr8:67978000-67996800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:67978000-68012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:67978200-67978600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr8:67978200-67978600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:67978200-67978600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:67978200-67978600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr8:67978200-67978600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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