Variant report

Variant	rs55761966
Chromosome Location	chr8:61430635-61430636
allele	G/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	CEBPB	chr8:61430591-61431032	A549	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
2	FOXA1	chr8:61430382-61430719	HepG2	liver:	n/a	chr8:61430699-61430711
3	CEBPB	chr8:61430430-61431022	K562	blood:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
4	MXI1	chr8:61430040-61430681	K562	blood:	n/a	n/a
5	CEBPB	chr8:61429760-61431045	IMR90	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
6	FOXA1	chr8:61430360-61430685	T-47D	breast:	n/a	n/a
7	CEBPB	chr8:61430477-61431049	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
8	POLR2A	chr8:61428864-61430905	GM12878	blood:	n/a	n/a
9	FOXA1	chr8:61430401-61430987	HepG2	liver:	n/a	chr8:61430699-61430711 chr8:61430761-61430773
10	TBP	chr8:61429141-61430844	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:61429407-61430946	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:61430533-61431032	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
13	ARID3A	chr8:61430472-61431007	HepG2	liver:	n/a	n/a
14	MXI1	chr8:61428929-61430766	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr8:61430590-61431056	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
16	MAX	chr8:61429094-61430642	K562	blood:	n/a	chr8:61430492-61430501
17	TBP	chr8:61430552-61430695	GM12878	blood:	n/a	n/a
18	FOS	chr8:61430558-61431003	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:61429120-61430636	K562	blood:	n/a	n/a
20	EP300	chr8:61430494-61430899	Hela-S3	cervix:	n/a	chr8:61430698-61430708
21	FOXA1	chr8:61430273-61430754	T-47D	breast:	n/a	chr8:61430699-61430711
22	CEBPB	chr8:61430552-61431087	MCF-7	breast:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
23	CEBPB	chr8:61430475-61431004	A549	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
24	SIN3A	chr8:61429159-61430788	GM12878	blood:	n/a	chr8:61429941-61429955 chr8:61429951-61429960 chr8:61429348-61429359 chr8:61430031-61430042
25	MYC	chr8:61429029-61430971	NB4	blood:	n/a	chr8:61430492-61430501
26	MAX	chr8:61428759-61430729	A549	lung:	n/a	chr8:61430492-61430501
27	FOXA2	chr8:61430374-61430970	HepG2	liver:	n/a	chr8:61430699-61430711 chr8:61430761-61430773
28	SIN3AK20	chr8:61428852-61430796	MCF-7	breast:	n/a	n/a
29	MYC	chr8:61428903-61430881	K562	blood:	n/a	chr8:61430492-61430501
30	POLR2A	chr8:61428585-61430878	MCF10A-Er-Src	breast:	n/a	n/a
31	JUND	chr8:61430482-61430985	HepG2	liver:	n/a	n/a
32	MAX	chr8:61428958-61431030	NB4	blood:	n/a	chr8:61430492-61430501
33	PML	chr8:61428886-61430680	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:61428812-61430640	K562	blood:	n/a	n/a
35	MXI1	chr8:61428747-61431095	IMR90	lung:	n/a	n/a
36	MYC	chr8:61428945-61431002	MCF10A-Er-Src	breast:	n/a	chr8:61430492-61430501
37	JUN	chr8:61430512-61430872	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:61430345-61430917	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:61429018-61430925	GM18505	blood:	n/a	n/a
40	MAX	chr8:61428780-61431065	HepG2	liver:	n/a	chr8:61430492-61430501
41	POLR2A	chr8:61428912-61431022	IMR90	lung:	n/a	n/a
42	POLR2A	chr8:61428823-61430664	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr8:61430500-61430916	K562	blood:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
44	GATA3	chr8:61430383-61430701	T-47D	breast:	n/a	n/a
45	POLR2A	chr8:61428909-61432038	HepG2	liver:	n/a	n/a
46	MAX	chr8:61430350-61430648	K562	blood:	n/a	chr8:61430492-61430501
47	SIN3A	chr8:61428925-61430639	H1-hESC	embryonic stem cell:	n/a	chr8:61429941-61429955 chr8:61429951-61429960 chr8:61429348-61429359 chr8:61430031-61430042
48	MAX	chr8:61428910-61430658	SK-N-SH	brain:	n/a	chr8:61430492-61430501
49	NFIC	chr8:61430614-61431059	GM12878	blood:	n/a	n/a
50	FOXA1	chr8:61430371-61430960	HepG2	liver:	n/a	chr8:61430699-61430711 chr8:61430761-61430773

No.	Distal block	Cell Line	Cell type
1	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
2	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
3	chr8:61430121..61431821-chr8:61449801..61452122,2	K562	blood:
4	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
5	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:

Variant related genes	Relation type
ENSG00000251396	TF binding region
ENSG00000251396	Chromatin interaction
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1384687	0.82[EUR][1000 genomes]
rs16926133	0.82[ASN][1000 genomes]
rs16926137	0.82[ASN][1000 genomes]
rs16926155	0.82[ASN][1000 genomes]
rs16926208	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16926270	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926284	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926294	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926324	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926354	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16926358	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893273	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941462	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007283	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178953	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2186985	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3735827	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55831959	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55837608	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55841758	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030634	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114656	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56123131	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56141796	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160504	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165842	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192263	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56332284	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56342714	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57297574	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57550331	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58183709	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59162154	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59861870	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60012828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60183060	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60369157	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60991551	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61120651	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471892	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980590	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981694	0.82[ASN][1000 genomes]
rs7016685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714207	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648529	0.82[ASN][1000 genomes]
rs72648531	0.82[ASN][1000 genomes]
rs72648552	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72648553	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648562	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72648567	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648576	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648589	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648590	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648594	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648597	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648602	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650405	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650416	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650417	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650422	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650425	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817790	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825009	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7825055	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7829407	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7830976	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845982	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922611	0.82[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3398933	chr8:61428423-61431271	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3368567	chr8:61428748-61430846	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61428200-61430800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:61428400-61430800	Active TSS	Adipose Nuclei	Adipose
3	chr8:61428400-61430800	Active TSS	HMEC	breast
4	chr8:61428400-61430800	Active TSS	NHEK	skin
5	chr8:61428400-61431400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:61428400-61431400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:61428400-61431400	Active TSS	A549	lung
8	chr8:61428400-61431400	Active TSS	NHLF	lung
9	chr8:61428400-61431600	Active TSS	NHDF-Ad	bronchial
10	chr8:61428600-61430800	Active TSS	HUVEC	blood vessel
11	chr8:61428600-61431000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:61428600-61431200	Active TSS	Fetal Intestine Small	intestine
13	chr8:61428600-61431200	Active TSS	Hela-S3	cervix
14	chr8:61428600-61431200	Active TSS	K562	blood
15	chr8:61428600-61431400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:61428600-61431400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:61428600-61431400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:61428600-61432000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:61428600-61432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:61428600-61432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
22	chr8:61428800-61430800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:61428800-61430800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:61428800-61430800	Active TSS	Brain Hippocampus Middle	brain
25	chr8:61428800-61430800	Active TSS	Brain Substantia Nigra	brain
26	chr8:61428800-61430800	Active TSS	Fetal Lung	lung
27	chr8:61428800-61430800	Active TSS	Fetal Stomach	stomach
28	chr8:61428800-61430800	Active TSS	Thymus	Thymus
29	chr8:61428800-61430800	Bivalent/Poised TSS	HepG2	liver
30	chr8:61428800-61431000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:61428800-61431000	Active TSS	Gastric	stomach
32	chr8:61428800-61431000	Active TSS	Small Intestine	intestine
33	chr8:61428800-61431000	Active TSS	Stomach Mucosa	stomach
34	chr8:61428800-61431200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:61428800-61431200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:61428800-61431200	Active TSS	Ovary	ovary
37	chr8:61428800-61431200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr8:61428800-61431400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr8:61428800-61431400	Active TSS	Colonic Mucosa	Colon
40	chr8:61428800-61431400	Active TSS	Colon Smooth Muscle	Colon
41	chr8:61428800-61431400	Active TSS	Fetal Kidney	kidney
42	chr8:61428800-61431400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr8:61428800-61431400	Active TSS	HSMM	muscle
44	chr8:61428800-61431600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:61428800-61431600	Active TSS	Aorta	Aorta
46	chr8:61428800-61431600	Active TSS	Psoas Muscle	Psoas
47	chr8:61428800-61431800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:61428800-61431800	Active TSS	Esophagus	oesophagus
49	chr8:61428800-61432000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:61428800-61432000	Active TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links