Variant report

Variant	rs73114800
Chromosome Location	chr5:74062599-74062600
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	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	CTCF	chr5:74062580-74062730	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr5:74062370-74063782	MCF-7	breast:	n/a	n/a
5	ELF1	chr5:74062565-74063423	K562	blood:	n/a	chr5:74062946-74062959
6	GABPA	chr5:74062346-74063831	MCF-7	breast:	n/a	chr5:74063007-74063014
7	POLR2A	chr5:74062566-74063373	GM12878	blood:	n/a	n/a
8	GABPA	chr5:74062359-74063710	SK-N-SH	brain:	n/a	chr5:74063007-74063014
9	POLR2A	chr5:74062516-74063424	K562	blood:	n/a	n/a
10	ELK1	chr5:74062550-74063605	Hela-S3	cervix:	n/a	chr5:74062947-74062956 chr5:74062947-74062956
11	CTCF	chr5:74062594-74062762	GM12891	blood:	n/a	n/a
12	GABPA	chr5:74062378-74063769	SK-N-SH	brain:	n/a	chr5:74063007-74063014
13	TCF12	chr5:74062562-74063374	ECC-1	luminal epithelium:	n/a	n/a
14	YY1	chr5:74062577-74063659	A549	lung:	n/a	n/a
15	MAX	chr5:74062210-74063798	A549	lung:	n/a	n/a
16	GTF2F1	chr5:74062177-74063825	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr5:74062580-74062730	SAEC	small airway:	n/a	n/a
18	POLR2A	chr5:74062537-74063800	U87	brain:	n/a	n/a
19	MAZ	chr5:74062348-74063598	K562	blood:	n/a	n/a
20	SRF	chr5:74062588-74063435	HCT-116	colon:	n/a	n/a
21	MYC	chr5:74062256-74063509	NB4	blood:	n/a	n/a
22	HCFC1	chr5:74062349-74063632	K562	blood:	n/a	n/a
23	MAFK	chr5:74062250-74063177	HepG2	liver:	n/a	chr5:74062377-74062388 chr5:74062373-74062388
24	POLR2A	chr5:74062583-74063536	GM12892	blood:	n/a	n/a
25	MYC	chr5:74062221-74063814	K562	blood:	n/a	n/a
26	CTCF	chr5:74062460-74062610	NHLF	lung:	n/a	n/a
27	ELK4	chr5:74062330-74063525	Hela-S3	cervix:	n/a	chr5:74062947-74062956
28	CREB1	chr5:74062442-74063395	HepG2	liver:	n/a	n/a
29	STAT3	chr5:74062363-74062617	MCF10A-Er-Src	breast:	n/a	n/a
30	BHLHE40	chr5:74062487-74062687	A549	lung:	n/a	n/a
31	MAX	chr5:74062480-74063734	MCF-7	breast:	n/a	n/a
32	MYC	chr5:74062260-74063512	MCF10A-Er-Src	breast:	n/a	n/a
33	GABPA	chr5:74062574-74063399	H1-hESC	embryonic stem cell:	n/a	chr5:74063007-74063014
34	ELK1	chr5:74062265-74063440	GM12878	blood:	n/a	chr5:74062947-74062956 chr5:74062947-74062956
35	MAX	chr5:74062599-74063264	K562	blood:	n/a	n/a
36	WRNIP1	chr5:74062306-74063828	GM12878	blood:	n/a	n/a
37	YY1	chr5:74062514-74063244	ECC-1	luminal epithelium:	n/a	n/a
38	TCF12	chr5:74062227-74063956	A549	lung:	n/a	n/a
39	TAF1	chr5:74062547-74063259	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:74062342-74063998	GM12878	blood:	n/a	n/a
41	HCFC1	chr5:74062043-74063786	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:74062432-74063684	K562	blood:	n/a	n/a
43	POLR2A	chr5:74062265-74063743	K562	blood:	n/a	n/a
44	PAX5	chr5:74062566-74063176	GM12892	blood:	n/a	n/a
45	MAX	chr5:74062476-74063424	A549	lung:	n/a	n/a
46	CREB1	chr5:74062558-74063287	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYBL2	chr5:74062466-74063320	HepG2	liver:	n/a	n/a
48	HA-E2F1	chr5:74062446-74063746	MCF-7	breast:	n/a	chr5:74062828-74062838 chr5:74062830-74062837 chr5:74062722-74062736 chr5:74062829-74062837 chr5:74062829-74062837
49	POLR2A	chr5:74062510-74063743	GM12891	blood:	n/a	n/a
50	POLR2A	chr5:74062557-74063728	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:
2	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12108923	1.00[AMR][1000 genomes]
rs12110114	1.00[AMR][1000 genomes]
rs16872254	1.00[AMR][1000 genomes]
rs16872290	1.00[AMR][1000 genomes]
rs16872303	1.00[AMR][1000 genomes]
rs16872322	1.00[AMR][1000 genomes]
rs16872334	1.00[AMR][1000 genomes]
rs16872357	1.00[AMR][1000 genomes]
rs2314938	1.00[AMR][1000 genomes]
rs57716237	1.00[AMR][1000 genomes]
rs58054246	1.00[AMR][1000 genomes]
rs58159376	1.00[AMR][1000 genomes]
rs59117660	1.00[AMR][1000 genomes]
rs61547995	1.00[AMR][1000 genomes]
rs73114780	1.00[AMR][1000 genomes]
rs73114783	1.00[AMR][1000 genomes]
rs73114784	1.00[AMR][1000 genomes]
rs73114790	1.00[AMR][1000 genomes]
rs73116705	1.00[AMR][1000 genomes]
rs73116719	1.00[AMR][1000 genomes]
rs73116732	1.00[AMR][1000 genomes]
rs73116736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120624	1.00[AMR][1000 genomes]
rs73120628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120630	1.00[AMR][1000 genomes]
rs73120638	1.00[AMR][1000 genomes]
rs73120654	1.00[AMR][1000 genomes]
rs73120662	1.00[AMR][1000 genomes]
rs73122656	1.00[AMR][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	chr5:74061800-74062600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr5:74061800-74062600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:74061800-74063600	Active TSS	NH-A	brain
19	chr5:74061800-74063800	Active TSS	HSMM	muscle
20	chr5:74061800-74064200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:74061800-74064400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:74061800-74064600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:74062000-74063600	Active TSS	Brain Angular Gyrus	brain
24	chr5:74062000-74063600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:74062000-74063600	Active TSS	Right Ventricle	heart
26	chr5:74062000-74063600	Active TSS	Small Intestine	intestine
27	chr5:74062000-74063600	Active TSS	Stomach Mucosa	stomach
28	chr5:74062000-74063800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:74062000-74063800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:74062000-74063800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:74062000-74063800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:74062000-74063800	Bivalent/Poised TSS	HepG2	liver
33	chr5:74062000-74064000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:74062000-74064000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:74062000-74064000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:74062000-74064000	Active TSS	Esophagus	oesophagus
37	chr5:74062000-74064000	Active TSS	Psoas Muscle	Psoas
38	chr5:74062200-74062600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:74062200-74062600	Active TSS	Brain Germinal Matrix	brain
40	chr5:74062200-74062600	Active TSS	Right Atrium	heart
41	chr5:74062200-74063400	Active TSS	Primary B cells from peripheral blood	blood
42	chr5:74062200-74063400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr5:74062200-74063400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:74062200-74063400	Active TSS	Colon Smooth Muscle	Colon
45	chr5:74062200-74063400	Active TSS	HUVEC	blood vessel
46	chr5:74062200-74063600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:74062200-74063600	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:74062200-74063600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:74062200-74063600	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr5:74062200-74063600	Active TSS	Primary T helper cells PMA-I stimulated	--

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