Variant report

Variant	rs11556477
Chromosome Location	chr5:74062881-74062882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:522)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:74062195-74063174	HepG2	liver:	n/a	chr5:74062377-74062388 chr5:74062373-74062388
2	POLR2A	chr5:74062564-74063886	SK-N-MC	brain:	n/a	n/a
3	SIN3AK20	chr5:74062370-74063782	MCF-7	breast:	n/a	n/a
4	ELF1	chr5:74062565-74063423	K562	blood:	n/a	chr5:74062946-74062959
5	GABPA	chr5:74062346-74063831	MCF-7	breast:	n/a	chr5:74063007-74063014
6	POLR2A	chr5:74062566-74063373	GM12878	blood:	n/a	n/a
7	USF1	chr5:74062786-74063216	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr5:74062666-74063267	HepG2	liver:	n/a	n/a
9	MYC	chr5:74062700-74063610	K562	blood:	n/a	n/a
10	SP1	chr5:74062729-74063230	HepG2	liver:	n/a	n/a
11	GABPA	chr5:74062359-74063710	SK-N-SH	brain:	n/a	chr5:74063007-74063014
12	POLR2A	chr5:74062516-74063424	K562	blood:	n/a	n/a
13	ELK1	chr5:74062550-74063605	Hela-S3	cervix:	n/a	chr5:74062947-74062956 chr5:74062947-74062956
14	MAFK	chr5:74062819-74063321	K562	blood:	n/a	n/a
15	YY1	chr5:74062717-74063214	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr5:74062866-74063250	A549	lung:	n/a	n/a
17	CTCF	chr5:74062860-74063010	GM12875	blood:	n/a	n/a
18	ZBTB33	chr5:74062750-74063215	A549	lung:	n/a	n/a
19	GABPA	chr5:74062378-74063769	SK-N-SH	brain:	n/a	chr5:74063007-74063014
20	TCF12	chr5:74062562-74063374	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr5:74062577-74063659	A549	lung:	n/a	n/a
22	CREB1	chr5:74062760-74063226	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr5:74062210-74063798	A549	lung:	n/a	n/a
24	MYC	chr5:74062671-74063185	MCF-7	breast:	n/a	n/a
25	TEAD4	chr5:74062767-74063205	K562	blood:	n/a	n/a
26	PBX3	chr5:74062785-74063331	A549	lung:	n/a	n/a
27	ZKSCAN1	chr5:74062712-74063232	Hela-S3	cervix:	n/a	n/a
28	GTF2F1	chr5:74062177-74063825	Hela-S3	cervix:	n/a	n/a
29	BCLAF1	chr5:74062776-74063288	K562	blood:	n/a	chr5:74062947-74062956
30	TAF1	chr5:74062815-74063189	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr5:74062537-74063800	U87	brain:	n/a	n/a
32	MAZ	chr5:74062348-74063598	K562	blood:	n/a	n/a
33	FOSL2	chr5:74062709-74063343	A549	lung:	n/a	n/a
34	REST	chr5:74062617-74063232	SK-N-SH	brain:	n/a	chr5:74062707-74062714 chr5:74063220-74063227
35	USF1	chr5:74062789-74063138	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr5:74062690-74063845	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr5:74062859-74063163	GM12878	blood:	n/a	n/a
38	SRF	chr5:74062588-74063435	HCT-116	colon:	n/a	n/a
39	SRF	chr5:74062788-74063173	GM12878	blood:	n/a	n/a
40	MYC	chr5:74062256-74063509	NB4	blood:	n/a	n/a
41	REST	chr5:74062756-74063198	PFSK-1	brain:	n/a	n/a
42	HCFC1	chr5:74062349-74063632	K562	blood:	n/a	n/a
43	RAD21	chr5:74062808-74063209	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAFK	chr5:74062250-74063177	HepG2	liver:	n/a	chr5:74062377-74062388 chr5:74062373-74062388
45	POLR2A	chr5:74062583-74063536	GM12892	blood:	n/a	n/a
46	TCF12	chr5:74062754-74063231	A549	lung:	n/a	n/a
47	ZNF384	chr5:74062698-74063176	K562	blood:	n/a	n/a
48	TEAD4	chr5:74062763-74063257	HepG2	liver:	n/a	n/a
49	MYC	chr5:74062221-74063814	K562	blood:	n/a	n/a
50	ELF1	chr5:74062721-74063408	GM12878	blood:	n/a	chr5:74062946-74062959

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74062831-74062881	GM12892	blood:	n/a
2	chr5:74062831-74062881	AG09309	skin:	n/a
3	chr5:74062846-74062896	HEK293	kidney:	embryo
4	chr5:74062846-74062896	AG04449	skin:	fetal
5	chr5:74062846-74062896	NB4	blood:	n/a
6	chr5:74062831-74062881	AG04449	skin:	fetal
7	chr5:74062831-74062881	U87	brain:	n/a
8	chr5:74062831-74062881	H1-hESC	embryonic stem cell:	embryo
9	chr5:74062831-74062881	NB4	blood:	n/a
10	chr5:74062846-74062896	HAEpiC	amniotic membrane:	n/a
11	chr5:74062831-74062881	A549	lung:	n/a
12	chr5:74062846-74062896	Hela-S3	cervix:	n/a
13	chr5:74062831-74062881	HRE	kidney:	n/a
14	chr5:74062846-74062896	K562	blood:	n/a
15	chr5:74062846-74062896	IMR90	lung:	fetal
16	chr5:74062831-74062881	PrEC	prostate:	n/a
17	chr5:74062846-74062896	ProgFib	skin:	n/a
18	chr5:74062831-74062881	T-47D	breast:	n/a
19	chr5:74062846-74062896	HMEC	breast:	n/a
20	chr5:74062846-74062896	BE2_C	brain:	n/a
21	chr5:74062846-74062896	ovcar-3	ovarian:	n/a
22	chr5:74062846-74062896	NHBE	bronchial:	n/a
23	chr5:74062846-74062896	Caco-2	colon:	n/a
24	chr5:74062831-74062881	HL-60	blood:	n/a
25	chr5:74062831-74062881	GM19239	blood:	n/a
26	chr5:74062846-74062896	HCT-116	colon:	n/a
27	chr5:74062846-74062896	MCF10A-Er-Src	breast:	n/a
28	chr5:74062831-74062881	Hepatocyte	liver:	n/a
29	chr5:74062846-74062896	GM19239	blood:	n/a
30	chr5:74062831-74062881	HepG2	liver:	n/a
31	chr5:74062846-74062896	A549	lung:	n/a
32	chr5:74062846-74062896	HRE	kidney:	n/a
33	chr5:74062846-74062896	Hepatocyte	liver:	n/a
34	chr5:74062831-74062881	HIPEpiC	eye:	n/a
35	chr5:74062831-74062881	HCM	heart:	n/a
36	chr5:74062831-74062881	BJ	skin:	n/a
37	chr5:74062846-74062896	HCF	heart:	n/a
38	chr5:74062831-74062881	HEEpiC	esophagus:	n/a
39	chr5:74062846-74062896	SK-N-SH	brain:	n/a
40	chr5:74062831-74062881	ovcar-3	ovarian:	n/a
41	chr5:74062831-74062881	MCF10A-Er-Src	breast:	n/a
42	chr5:74062846-74062896	AG09309	skin:	n/a
43	chr5:74062846-74062896	BJ	skin:	n/a
44	chr5:74062831-74062881	IMR90	lung:	fetal
45	chr5:74062831-74062881	HRPEpiC	eye:	n/a
46	chr5:74062846-74062896	ECC-1	luminal epithelium:	n/a
47	chr5:74062831-74062881	AoSMC	blood vessel:	n/a
48	chr5:74062846-74062896	T-47D	breast:	n/a
49	chr5:74062831-74062881	ECC-1	luminal epithelium:	n/a
50	chr5:74062831-74062881	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:
2	chr5:74062787..74065047-chr5:74073990..74076959,3	MCF-7	breast:
3	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:

No data

Variant related genes	Relation type
NSA2	TF binding region
NSA2	CpG island
ENSG00000049860	Chromatin interaction
ENSG00000199645	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10062244	0.96[ASN][1000 genomes]
rs10515189	0.82[ASN][1000 genomes]
rs11739122	0.83[ASN][1000 genomes]
rs11740871	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741464	0.81[ASN][1000 genomes]
rs11741789	0.80[ASN][1000 genomes]
rs11742773	0.83[ASN][1000 genomes]
rs11746611	0.81[ASN][1000 genomes]
rs11749137	0.83[ASN][1000 genomes]
rs1350097	0.83[ASN][1000 genomes]
rs1447453	0.80[ASN][1000 genomes]
rs1531103	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16872333	0.80[ASN][1000 genomes]
rs16872347	0.80[ASN][1000 genomes]
rs16872364	0.80[ASN][1000 genomes]
rs17670701	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17670867	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670897	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670975	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17671140	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17738111	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17738266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738565	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17738645	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17738674	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17852781	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1812122	0.84[ASN][1000 genomes]
rs1992712	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993370	0.80[ASN][1000 genomes]
rs1993372	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044410	0.80[ASN][1000 genomes]
rs2061162	0.80[ASN][1000 genomes]
rs2084116	0.83[ASN][1000 genomes]
rs2084118	0.83[ASN][1000 genomes]
rs2084119	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100033	0.83[ASN][1000 genomes]
rs3733794	0.81[ASN][1000 genomes]
rs3932895	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3968877	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4594835	0.80[ASN][1000 genomes]
rs56068548	0.80[ASN][1000 genomes]
rs56202905	0.80[ASN][1000 genomes]
rs58184895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61093699	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366366	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62366371	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62366373	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62366375	0.81[ASN][1000 genomes]
rs62366376	0.81[ASN][1000 genomes]
rs62366406	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366413	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366414	0.83[ASN][1000 genomes]
rs62366415	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366416	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366418	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366419	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366420	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366421	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366423	0.80[ASN][1000 genomes]
rs62366424	0.80[ASN][1000 genomes]
rs62366426	0.80[ASN][1000 genomes]
rs62366450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366454	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366455	0.80[ASN][1000 genomes]
rs62366456	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62366457	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366458	0.80[ASN][1000 genomes]
rs62366459	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62367765	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62367766	0.80[ASN][1000 genomes]
rs62367767	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6453086	0.83[ASN][1000 genomes]
rs6873067	0.80[ASN][1000 genomes]
rs6874094	0.83[ASN][1000 genomes]
rs6877442	0.80[ASN][1000 genomes]
rs6882499	0.83[ASN][1000 genomes]
rs6883061	0.83[ASN][1000 genomes]
rs6884843	0.80[ASN][1000 genomes]
rs6885675	0.83[ASN][1000 genomes]
rs6890815	0.83[ASN][1000 genomes]
rs6897698	0.80[ASN][1000 genomes]
rs6897904	0.80[ASN][1000 genomes]
rs72764640	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72764681	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7717223	0.80[ASN][1000 genomes]
rs7724292	0.80[ASN][1000 genomes]
rs7728889	0.80[ASN][1000 genomes]
rs820828	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820834	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9686657	0.83[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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr5:74061000-74063000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr5:74061000-74064600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:74061200-74063800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr5:74061200-74064400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:74061400-74063600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:74061400-74063800	Active TSS	NHLF	lung
7	chr5:74061400-74064000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:74061400-74064000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:74061400-74064000	Active TSS	Fetal Kidney	kidney
10	chr5:74061400-74064000	Active TSS	NHDF-Ad	bronchial
11	chr5:74061400-74064200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:74061400-74064400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:74061600-74064000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:74061600-74064000	Active TSS	A549	lung
15	chr5:74061600-74064000	Active TSS	GM12878-XiMat	blood
16	chr5:74061800-74063600	Active TSS	NH-A	brain
17	chr5:74061800-74063800	Active TSS	HSMM	muscle
18	chr5:74061800-74064200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:74061800-74064400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:74061800-74064600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:74062000-74063600	Active TSS	Brain Angular Gyrus	brain
22	chr5:74062000-74063600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:74062000-74063600	Active TSS	Right Ventricle	heart
24	chr5:74062000-74063600	Active TSS	Small Intestine	intestine
25	chr5:74062000-74063600	Active TSS	Stomach Mucosa	stomach
26	chr5:74062000-74063800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:74062000-74063800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:74062000-74063800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:74062000-74063800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:74062000-74063800	Bivalent/Poised TSS	HepG2	liver
31	chr5:74062000-74064000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr5:74062000-74064000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:74062000-74064000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr5:74062000-74064000	Active TSS	Esophagus	oesophagus
35	chr5:74062000-74064000	Active TSS	Psoas Muscle	Psoas
36	chr5:74062200-74063400	Active TSS	Primary B cells from peripheral blood	blood
37	chr5:74062200-74063400	Active TSS	Primary T cells fromperipheralblood	blood
38	chr5:74062200-74063400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:74062200-74063400	Active TSS	Colon Smooth Muscle	Colon
40	chr5:74062200-74063400	Active TSS	HUVEC	blood vessel
41	chr5:74062200-74063600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:74062200-74063600	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr5:74062200-74063600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:74062200-74063600	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:74062200-74063600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr5:74062200-74063600	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr5:74062200-74063600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:74062200-74063600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:74062200-74063600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:74062200-74063600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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