Variant report

Variant	rs73250244
Chromosome Location	chr8:67526307-67526308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr8:67524566-67526408	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr8:67525580-67526723	GM12878	blood:	n/a	n/a
3	MXI1	chr8:67525336-67526704	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr8:67525660-67526308	K562	blood:	n/a	n/a
5	CHD2	chr8:67526154-67526457	K562	blood:	n/a	n/a
6	POLR2A	chr8:67525244-67526581	GM18951	blood:	n/a	n/a
7	GABPA	chr8:67525488-67526513	MCF-7	breast:	n/a	chr8:67525535-67525544
8	STAT5A	chr8:67526031-67526455	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:67525245-67526381	U87	brain:	n/a	n/a
10	ZBTB7A	chr8:67524936-67526340	ECC-1	luminal epithelium:	n/a	n/a
11	MYC	chr8:67524651-67526857	A549	lung:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
12	SMC3	chr8:67524599-67526683	Hela-S3	cervix:	n/a	chr8:67525176-67525190
13	POLR2A	chr8:67524646-67526480	Hela-S3	cervix:	n/a	n/a
14	EP300	chr8:67525361-67526325	K562	blood:	n/a	n/a
15	ATF2	chr8:67525934-67526351	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:67525257-67526424	K562	blood:	n/a	n/a
17	POLR2A	chr8:67524759-67526703	Hela-S3	cervix:	n/a	n/a
18	MYC	chr8:67525024-67526791	K562	blood:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
19	SIN3AK20	chr8:67524827-67526313	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYBL2	chr8:67525241-67526340	HepG2	liver:	n/a	n/a
21	ZKSCAN1	chr8:67525371-67526431	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr8:67525413-67526698	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:67525665-67526319	GM12878	blood:	n/a	n/a
24	MAX	chr8:67525233-67526439	MCF-7	breast:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
25	YY1	chr8:67526094-67526389	GM12878	blood:	n/a	n/a
26	TAF1	chr8:67525105-67526396	PFSK-1	brain:	n/a	n/a
27	ELK4	chr8:67525667-67526647	Hela-S3	cervix:	n/a	chr8:67525840-67525851
28	ELF1	chr8:67524584-67526555	HCT-116	colon:	n/a	n/a
29	POLR2A	chr8:67525100-67526508	Hela-S3	cervix:	n/a	n/a
30	MAX	chr8:67524586-67526755	Hela-S3	cervix:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
31	RFX5	chr8:67524764-67526782	Hela-S3	cervix:	n/a	chr8:67525554-67525563
32	POLR2A	chr8:67525254-67526380	NB4	blood:	n/a	n/a
33	POLR2A	chr8:67524676-67526478	Hela-S3	cervix:	n/a	n/a
34	PML	chr8:67525255-67527027	GM12878	blood:	n/a	n/a
35	TAF1	chr8:67526085-67526385	SK-N-SH	brain:	n/a	n/a
36	TCF12	chr8:67524706-67526547	A549	lung:	n/a	chr8:67524889-67524899 chr8:67525774-67525784
37	MAX	chr8:67524534-67526634	A549	lung:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
38	MAFK	chr8:67526171-67526706	K562	blood:	n/a	n/a
39	ELK1	chr8:67525635-67526325	GM12878	blood:	n/a	n/a
40	CREB1	chr8:67524801-67526492	HepG2	liver:	n/a	n/a
41	TEAD4	chr8:67525509-67526326	K562	blood:	n/a	n/a
42	ELF1	chr8:67525482-67526496	K562	blood:	n/a	n/a
43	JUND	chr8:67525463-67526438	K562	blood:	n/a	n/a
44	MAX	chr8:67524656-67526618	Hela-S3	cervix:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
45	SIN3AK20	chr8:67524609-67526508	HCT-116	colon:	n/a	n/a
46	BHLHE40	chr8:67524986-67526385	K562	blood:	n/a	n/a
47	TBP	chr8:67525762-67526708	Hela-S3	cervix:	n/a	n/a
48	HA-E2F1	chr8:67524651-67526545	MCF-7	breast:	n/a	chr8:67524927-67524939 chr8:67525555-67525564 chr8:67525771-67525781
49	MAZ	chr8:67524319-67526615	IMR90	lung:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
50	E2F6	chr8:67524639-67526414	K562	blood:	n/a	chr8:67524928-67524939 chr8:67524927-67524939 chr8:67525555-67525564 chr8:67525771-67525781 chr8:67524970-67524981

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67526270-67526320	NH-A	brain:	n/a
2	chr8:67526293-67526343	HCPEpiC	choroid plexus:	n/a
3	chr8:67526293-67526343	SAEC	small airway:	n/a
4	chr8:67526293-67526343	K562	blood:	n/a
5	chr8:67526270-67526320	HEEpiC	esophagus:	n/a
6	chr8:67526293-67526343	BE2_C	brain:	n/a
7	chr8:67526293-67526343	HNPCEpiC	eye:	n/a
8	chr8:67526293-67526343	MCF10A-Er-Src	breast:	n/a
9	chr8:67526293-67526343	SK-N-SH	brain:	n/a
10	chr8:67526293-67526343	AG09309	skin:	n/a
11	chr8:67526270-67526320	HCF	heart:	n/a
12	chr8:67526293-67526343	PFSK-1	brain:	n/a
13	chr8:67526270-67526320	ProgFib	skin:	n/a
14	chr8:67526270-67526320	HRPEpiC	eye:	n/a
15	chr8:67526293-67526343	HIPEpiC	eye:	n/a
16	chr8:67526293-67526343	NHBE	bronchial:	n/a
17	chr8:67526270-67526320	MCF-7	breast:	n/a
18	chr8:67526270-67526320	PFSK-1	brain:	n/a
19	chr8:67526293-67526343	SK-N-MC	brain:	n/a
20	chr8:67526270-67526320	Caco-2	colon:	n/a
21	chr8:67526293-67526343	GM12891	blood:	n/a
22	chr8:67526270-67526320	IMR90	lung:	fetal
23	chr8:67526293-67526343	NH-A	brain:	n/a
24	chr8:67526270-67526320	HCPEpiC	choroid plexus:	n/a
25	chr8:67526270-67526320	HUVEC	blood vessel:	n/a
26	chr8:67526270-67526320	NT2-D1	testis:	n/a
27	chr8:67526293-67526343	AG04450	lung:	fetal
28	chr8:67526293-67526343	HRCEpiC	kidney:	n/a
29	chr8:67526270-67526320	HMEC	breast:	n/a
30	chr8:67526293-67526343	RPTEC	kidney:	n/a
31	chr8:67526270-67526320	ECC-1	luminal epithelium:	n/a
32	chr8:67526270-67526320	Hepatocyte	liver:	n/a
33	chr8:67526270-67526320	BJ	skin:	n/a
34	chr8:67526270-67526320	SK-N-SH_RA	brain:	n/a
35	chr8:67526270-67526320	HRE	kidney:	n/a
36	chr8:67526270-67526320	A549	lung:	n/a
37	chr8:67526293-67526343	CMK	blood:	n/a
38	chr8:67526270-67526320	T-47D	breast:	n/a
39	chr8:67526293-67526343	AoSMC	blood vessel:	n/a
40	chr8:67526270-67526320	RPTEC	kidney:	n/a
41	chr8:67526270-67526320	PANC-1	pancreas:	n/a
42	chr8:67526293-67526343	PrEC	prostate:	n/a
43	chr8:67526293-67526343	NT2-D1	testis:	n/a
44	chr8:67526293-67526343	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:67526270-67526320	HL-60	blood:	n/a
46	chr8:67526293-67526343	HRE	kidney:	n/a
47	chr8:67526293-67526343	HEK293	kidney:	embryo
48	chr8:67526293-67526343	Jurkat	blood:	n/a
49	chr8:67526293-67526343	AG10803	skin:	n/a
50	chr8:67526270-67526320	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:89626688..89627456-chr8:67525794..67526391,2	Hela-S3	cervix:
2	chr8:67523974..67528801-chr8:67579151..67581998,7	K562	blood:
3	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
4	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
5	chr8:67523934..67528477-chr8:67576797..67579768,6	MCF-7	breast:
6	chr8:67524099..67528801-chr8:67579151..67581449,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYBL1-2	chr8:67524380-67526482	NONHSAT127036

No data

Variant related genes	Relation type
MYBL1	TF binding region
MYBL1	CpG island
ENSG00000213865	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10504393	1.00[EUR][1000 genomes]
rs11986831	1.00[EUR][1000 genomes]
rs11987253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	1.00[EUR][1000 genomes]
rs11990322	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	1.00[EUR][1000 genomes]
rs11993306	1.00[ASN][1000 genomes]
rs11993354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	1.00[EUR][1000 genomes]
rs11995031	1.00[EUR][1000 genomes]
rs11995253	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995291	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997554	1.00[EUR][1000 genomes]
rs11998194	1.00[EUR][1000 genomes]
rs12114868	0.96[EUR][1000 genomes]
rs16932983	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	1.00[EUR][1000 genomes]
rs16933026	0.96[EUR][1000 genomes]
rs16933032	1.00[EUR][1000 genomes]
rs2357998	1.00[EUR][1000 genomes]
rs2358000	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	1.00[EUR][1000 genomes]
rs35078037	1.00[EUR][1000 genomes]
rs35353562	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	1.00[EUR][1000 genomes]
rs3824258	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	1.00[EUR][1000 genomes]
rs56682762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	1.00[EUR][1000 genomes]
rs56911449	0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	1.00[EUR][1000 genomes]
rs57858031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	1.00[EUR][1000 genomes]
rs60165103	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	1.00[EUR][1000 genomes]
rs6986439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988670	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	1.00[EUR][1000 genomes]
rs6998505	0.96[EUR][1000 genomes]
rs6998718	1.00[EUR][1000 genomes]
rs7003548	1.00[EUR][1000 genomes]
rs7008740	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248113	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes]
rs73253968	1.00[EUR][1000 genomes]
rs73261704	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	1.00[EUR][1000 genomes]
rs7844944	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr8:67522200-67526400	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr8:67522600-67527000	Active TSS	NHLF	lung
3	chr8:67522800-67526400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr8:67523200-67526400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:67523200-67526600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:67523200-67526600	Active TSS	HSMM	muscle
7	chr8:67523400-67526400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:67523600-67526800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:67523800-67527000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:67524000-67526400	Active TSS	HMEC	breast
11	chr8:67524000-67526800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:67524200-67526400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:67524200-67526400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:67524200-67526800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:67524200-67526800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:67524200-67526800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:67524200-67526800	Active TSS	NHDF-Ad	bronchial
18	chr8:67524200-67527000	Active TSS	A549	lung
19	chr8:67524400-67526400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:67524400-67526400	Active TSS	Fetal Kidney	kidney
21	chr8:67524400-67526600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:67524400-67526600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:67524400-67526600	Active TSS	HSMMtube	muscle
24	chr8:67524400-67526800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:67524400-67526800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:67524600-67526400	Active TSS	Brain Substantia Nigra	brain
27	chr8:67524600-67526400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr8:67524600-67526400	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr8:67524600-67526400	Active TSS	Spleen	Spleen
30	chr8:67524600-67526600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:67524600-67526600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:67524600-67526600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:67524600-67526800	Active TSS	Osteobl	bone
34	chr8:67524600-67527000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr8:67524600-67527000	Active TSS	Right Atrium	heart
36	chr8:67524800-67526400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:67524800-67526400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:67524800-67526400	Active TSS	Small Intestine	intestine
39	chr8:67524800-67526400	Active TSS	Hela-S3	cervix
40	chr8:67524800-67526400	Active TSS	NHEK	skin
41	chr8:67524800-67526600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr8:67524800-67526600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:67524800-67526600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:67524800-67526600	Active TSS	Aorta	Aorta
45	chr8:67524800-67526600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:67524800-67526600	Active TSS	Gastric	stomach
47	chr8:67524800-67526800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:67524800-67526800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:67524800-67526800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:67525000-67526400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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