Variant report

Variant	rs72726234
Chromosome Location	chr8:131457069-131457070
allele	A/T
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	EGR1	chr8:131456785-131457559	HCT-116	colon:	n/a	n/a
2	RAD21	chr8:131456755-131457387	SK-N-SH_RA	brain:	n/a	n/a
3	FOXM1	chr8:131456952-131457403	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:131455239-131457407	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr8:131456824-131457803	SK-N-SH	brain:	n/a	n/a
6	NFYB	chr8:131456950-131457305	GM12878	blood:	n/a	chr8:131457060-131457075 chr8:131457060-131457074 chr8:131457060-131457075 chr8:131457062-131457072
7	FOSL2	chr8:131456917-131457273	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:131454452-131457159	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:131456859-131457300	HCT-116	colon:	n/a	n/a
10	MYC	chr8:131457063-131457224	NB4	blood:	n/a	n/a
11	FOS	chr8:131456837-131457705	MCF10A-Er-Src	breast:	n/a	chr8:131457070-131457081
12	MEF2A	chr8:131456831-131457531	SK-N-SH	brain:	n/a	n/a
13	TEAD4	chr8:131456682-131457718	SK-N-SH	brain:	n/a	n/a
14	MTA3	chr8:131457021-131457375	GM12878	blood:	n/a	n/a
15	JUND	chr8:131456691-131457500	SK-N-SH	brain:	n/a	n/a
16	WRNIP1	chr8:131457023-131457223	GM12878	blood:	n/a	n/a
17	EBF1	chr8:131456926-131457518	GM12878	blood:	n/a	n/a
18	YY1	chr8:131456871-131457379	SK-N-SH	brain:	n/a	n/a
19	EBF1	chr8:131456883-131457466	GM12878	blood:	n/a	n/a
20	JUND	chr8:131456635-131457760	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr8:131455658-131457935	SK-N-SH	brain:	n/a	chr8:131456867-131456877 chr8:131455897-131455907
22	POLR2A	chr8:131454346-131457557	SK-N-MC	brain:	n/a	n/a
23	CEBPB	chr8:131456985-131457742	IMR90	lung:	n/a	chr8:131457576-131457587 chr8:131457063-131457071
24	NFIC	chr8:131456892-131457406	GM12878	blood:	n/a	n/a
25	NFATC1	chr8:131456981-131457438	GM12878	blood:	n/a	chr8:131457086-131457099
26	MAX	chr8:131454235-131457841	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
27	SPI1	chr8:131456970-131457459	GM12891	blood:	n/a	chr8:131457244-131457253
28	STAT3	chr8:131456876-131457289	MCF10A-Er-Src	breast:	n/a	chr8:131457244-131457255
29	TCF3	chr8:131457063-131457435	GM12878	blood:	n/a	n/a
30	FOS	chr8:131456867-131457688	MCF10A-Er-Src	breast:	n/a	chr8:131457070-131457081
31	TCF7L2	chr8:131456927-131457623	HCT-116	colon:	n/a	chr8:131457166-131457173
32	MAZ	chr8:131456842-131457517	Hela-S3	cervix:	n/a	n/a
33	NFIC	chr8:131456662-131457834	SK-N-SH	brain:	n/a	n/a
34	SP1	chr8:131455757-131457410	A549	lung:	n/a	chr8:131456117-131456129 chr8:131456117-131456129 chr8:131456132-131456145 chr8:131456112-131456122 chr8:131456118-131456128 chr8:131455922-131455936
35	RXRA	chr8:131456694-131457539	SK-N-SH	brain:	n/a	chr8:131457244-131457253
36	POLR2A	chr8:131456626-131457421	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr8:131454727-131457893	MCF10A-Er-Src	breast:	n/a	n/a
38	RUNX3	chr8:131456701-131457485	GM12878	blood:	n/a	chr8:131457079-131457088 chr8:131457079-131457088
39	BATF	chr8:131456988-131457439	GM12878	blood:	n/a	n/a
40	EP300	chr8:131456978-131457366	GM12878	blood:	n/a	n/a
41	FOS	chr8:131455890-131457699	MCF10A-Er-Src	breast:	n/a	chr8:131457070-131457081
42	POLR2A	chr8:131456825-131457288	U87	brain:	n/a	n/a
43	SPI1	chr8:131457036-131457434	GM12878	blood:	n/a	chr8:131457244-131457253
44	RAD21	chr8:131456772-131457323	Hela-S3	cervix:	n/a	n/a
45	PAX5	chr8:131456878-131457518	GM12878	blood:	n/a	chr8:131457244-131457253
46	POLR2A	chr8:131456816-131457377	Hela-S3	cervix:	n/a	n/a
47	GATA2	chr8:131456788-131457417	HUVEC	blood vessel:	n/a	chr8:131456867-131456877
48	FOSL2	chr8:131456906-131457229	A549	lung:	n/a	n/a
49	ATF2	chr8:131456917-131457468	GM12878	blood:	n/a	n/a
50	TBP	chr8:131455899-131457292	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7011034	0.82[EUR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724412	0.81[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726220	0.90[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726240	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726241	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726244	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7461213	0.82[EUR][1000 genomes]
rs7461215	0.82[EUR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3423192	chr8:131454795-131457643	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131454600-131457200	Bivalent/Poised TSS	Thymus	Thymus
2	chr8:131456000-131457600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:131456000-131457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr8:131456000-131457600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:131456000-131457800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr8:131456000-131457800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:131456000-131457800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr8:131456000-131457800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr8:131456000-131457800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:131456000-131457800	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:131456000-131457800	Flanking Active TSS	HMEC	breast
12	chr8:131456000-131458000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:131456000-131458000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
14	chr8:131456000-131458000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:131456000-131458200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr8:131456200-131457400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:131456200-131457600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr8:131456200-131457600	Flanking Active TSS	HUVEC	blood vessel
19	chr8:131456200-131457600	Flanking Active TSS	NHDF-Ad	bronchial
20	chr8:131456200-131457800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:131456200-131457800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr8:131456200-131457800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
23	chr8:131456200-131457800	Flanking Active TSS	Hela-S3	cervix
24	chr8:131456200-131457800	Flanking Active TSS	NH-A	brain
25	chr8:131456200-131457800	Flanking Active TSS	Osteobl	bone
26	chr8:131456200-131458000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr8:131456200-131458000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:131456200-131458000	Bivalent Enhancer	Fetal Thymus	thymus
29	chr8:131456200-131458000	Flanking Active TSS	NHEK	skin
30	chr8:131456400-131457200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:131456400-131457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:131456400-131457200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:131456400-131457200	Enhancers	HSMM	muscle
34	chr8:131456400-131457400	Weak transcription	Lung	lung
35	chr8:131456400-131457400	Flanking Active TSS	HepG2	liver
36	chr8:131456400-131457400	Flanking Active TSS	NHLF	lung
37	chr8:131456400-131457600	Enhancers	Liver	Liver
38	chr8:131456400-131457600	Enhancers	Esophagus	oesophagus
39	chr8:131456400-131457800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:131456400-131457800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:131456400-131457800	Flanking Active TSS	A549	lung
42	chr8:131456400-131458000	Enhancers	Spleen	Spleen
43	chr8:131456400-131458200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:131456400-131460600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:131456400-131460600	Weak transcription	Ovary	ovary
46	chr8:131456600-131457200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr8:131456600-131457200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr8:131456600-131457200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:131456600-131457200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:131456600-131457200	Enhancers	Adipose Nuclei	Adipose

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