Variant report

Variant	rs12547108
Chromosome Location	chr8:117779458-117779459
allele	C/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	POLR2A	chr8:117778312-117780438	GM12878	blood:	n/a	n/a
2	MAX	chr8:117777974-117779617	A549	lung:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
3	MAX	chr8:117777983-117779941	HCT-116	colon:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
4	SIN3AK20	chr8:117777881-117780032	MCF-7	breast:	n/a	n/a
5	CTCF	chr8:117777773-117779942	A549	lung:	n/a	chr8:117778564-117778580
6	USF1	chr8:117778352-117779503	ECC-1	luminal epithelium:	n/a	chr8:117779227-117779238
7	SIN3A	chr8:117778378-117779906	H1-hESC	embryonic stem cell:	n/a	chr8:117779140-117779149
8	HEY1	chr8:117777893-117779531	K562	blood:	n/a	n/a
9	MYC	chr8:117778347-117779763	NB4	blood:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
10	CHD2	chr8:117778440-117779461	H1-hESC	embryonic stem cell:	n/a	chr8:117778736-117778743
11	MAX	chr8:117777842-117779884	HCT-116	colon:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
12	NFYB	chr8:117779146-117779500	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:117777914-117779558	HepG2	liver:	n/a	n/a
14	MAX	chr8:117779442-117779827	K562	blood:	n/a	n/a
15	ELF1	chr8:117778149-117779477	HCT-116	colon:	n/a	chr8:117778745-117778758 chr8:117778747-117778756 chr8:117778746-117778757 chr8:117778746-117778757
16	CTCF	chr8:117779440-117779590	GM12872	blood:	n/a	n/a
17	GTF2F1	chr8:117778018-117779833	Hela-S3	cervix:	n/a	n/a
18	RELA	chr8:117777971-117779541	GM18951	blood:	n/a	n/a
19	POLR2A	chr8:117778025-117779605	GM18505	blood:	n/a	n/a
20	POLR2A	chr8:117778188-117779849	GM12878	blood:	n/a	n/a
21	MAX	chr8:117777815-117779896	MCF-7	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
22	MAX	chr8:117778053-117779727	NB4	blood:	n/a	chr8:117779220-117779236 chr8:117779227-117779240 chr8:117779135-117779145 chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148
23	POLR2A	chr8:117777965-117779818	IMR90	lung:	n/a	n/a
24	NR2F2	chr8:117778161-117780072	K562	blood:	n/a	n/a
25	MYC	chr8:117777793-117779736	K562	blood:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
26	MAX	chr8:117778265-117779466	ECC-1	luminal epithelium:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
27	RELA	chr8:117778138-117779710	GM15510	blood:	n/a	n/a
28	FOXM1	chr8:117777896-117779523	GM12878	blood:	n/a	n/a
29	MXI1	chr8:117778335-117779816	Hela-S3	cervix:	n/a	chr8:117779140-117779149
30	POLR2A	chr8:117777970-117779852	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:117777928-117779997	HL-60	blood:	n/a	n/a
32	MXI1	chr8:117777838-117780600	SK-N-SH	brain:	n/a	chr8:117779140-117779149
33	GABPA	chr8:117777652-117779900	MCF-7	breast:	n/a	chr8:117778553-117778567 chr8:117778556-117778567 chr8:117778556-117778565 chr8:117779136-117779145
34	POLR2A	chr8:117777960-117780365	GM12891	blood:	n/a	n/a
35	MYC	chr8:117778312-117780308	MCF10A-Er-Src	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
36	POLR2A	chr8:117777754-117779689	K562	blood:	n/a	n/a
37	MXI1	chr8:117778493-117779479	H1-hESC	embryonic stem cell:	n/a	chr8:117779140-117779149
38	MYC	chr8:117777958-117779874	K562	blood:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
39	POLR2A	chr8:117778470-117779534	GM12891	blood:	n/a	n/a
40	MXI1	chr8:117777830-117780660	IMR90	lung:	n/a	chr8:117779140-117779149
41	GABPA	chr8:117777830-117779805	A549	lung:	n/a	chr8:117778553-117778567 chr8:117778556-117778567 chr8:117778556-117778565 chr8:117779136-117779145
42	POLR2A	chr8:117778087-117779564	MCF10A-Er-Src	breast:	n/a	n/a
43	MXI1	chr8:117778283-117779802	HepG2	liver:	n/a	chr8:117779140-117779149
44	MAX	chr8:117778323-117779465	ECC-1	luminal epithelium:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
45	TBP	chr8:117778271-117779599	GM12878	blood:	n/a	n/a
46	MAX	chr8:117778040-117779782	Hela-S3	cervix:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
47	USF2	chr8:117779053-117779565	HepG2	liver:	n/a	chr8:117779227-117779238
48	POLR2A	chr8:117777849-117779796	K562	blood:	n/a	n/a
49	MAX	chr8:117777781-117779516	A549	lung:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
50	CTCF	chr8:117779380-117779530	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
2	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:
3	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

Variant related genes	Relation type
UTP23	TF binding region
EIF3H	TF binding region
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10089833	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104144	0.84[EUR][1000 genomes]
rs10111411	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10156225	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10283122	0.82[EUR][1000 genomes]
rs10808483	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10808485	0.80[EUR][1000 genomes]
rs11775890	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11779352	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12155774	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12375316	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547079	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13257365	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13260809	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264928	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28431802	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34007155	0.86[AMR][1000 genomes]
rs35792844	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129066	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4304349	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4344109	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4372028	0.83[EUR][1000 genomes]
rs4406425	0.87[AMR][1000 genomes]
rs4449824	0.82[EUR][1000 genomes]
rs4637871	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876673	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876677	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876678	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62510182	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469659	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983034	0.81[EUR][1000 genomes]
rs6995719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6995838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004009	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011256	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9792358	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr8:117777600-117779600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:117777600-117779800	Active TSS	A549	lung
3	chr8:117777800-117779600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:117777800-117779600	Active TSS	Brain Hippocampus Middle	brain
5	chr8:117777800-117779600	Active TSS	Ovary	ovary
6	chr8:117777800-117779600	Active TSS	Psoas Muscle	Psoas
7	chr8:117777800-117780000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:117778000-117779600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:117778000-117779600	Active TSS	Aorta	Aorta
10	chr8:117778000-117779600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:117778000-117779600	Active TSS	Gastric	stomach
12	chr8:117778000-117779600	Active TSS	Pancreas	Pancrea
13	chr8:117778000-117779600	Active TSS	Right Atrium	heart
14	chr8:117778000-117779600	Active TSS	HSMM	muscle
15	chr8:117778000-117779600	Active TSS	HSMMtube	muscle
16	chr8:117778000-117779800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:117778000-117779800	Active TSS	Fetal Intestine Small	intestine
18	chr8:117778000-117779800	Active TSS	Fetal Muscle Trunk	muscle
19	chr8:117778000-117779800	Active TSS	Lung	lung
20	chr8:117778000-117780000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:117778000-117780400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:117778000-117780600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:117778200-117779600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr8:117778200-117779600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:117778200-117779600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:117778200-117779600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:117778200-117779600	Active TSS	Esophagus	oesophagus
28	chr8:117778200-117779600	Active TSS	Fetal Intestine Large	intestine
29	chr8:117778200-117779600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr8:117778200-117779600	Active TSS	Stomach Mucosa	stomach
31	chr8:117778200-117779800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:117778200-117779800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:117778200-117779800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:117778200-117779800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:117778200-117779800	Active TSS	Left Ventricle	heart
36	chr8:117778200-117779800	Bivalent/Poised TSS	HepG2	liver
37	chr8:117778200-117780000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:117778200-117780000	Active TSS	NHLF	lung
39	chr8:117778200-117780200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:117778200-117780400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:117778400-117779600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr8:117778400-117779600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:117778400-117779600	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr8:117778400-117779600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:117778400-117779600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:117778400-117779600	Active TSS	K562	blood
47	chr8:117778400-117779600	Active TSS	NHDF-Ad	bronchial
48	chr8:117778400-117779600	Active TSS	NHEK	skin
49	chr8:117778400-117779800	Active TSS	HMEC	breast
50	chr8:117778400-117780200	Active TSS	GM12878-XiMat	blood

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