Variant report

Variant	rs473679
Chromosome Location	chr11:59477762-59477763
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	PBX3	chr11:59477522-59478288	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:59477346-59478410	SK-N-SH	brain:	n/a	n/a
3	JUND	chr11:59477511-59478368	SK-N-SH	brain:	n/a	n/a
4	EP300	chr11:59477505-59478146	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr11:59477418-59478245	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr11:59477576-59478136	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr11:59477511-59478192	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:59477371-59478368	SK-N-SH	brain:	n/a	n/a
9	JUND	chr11:59477457-59478016	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr11:59477486-59478148	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr11:59477528-59478319	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr11:59477452-59478278	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59476148..59479085-chr11:59479730..59481553,2	K562	blood:

Variant related genes	Relation type
RN7SKP192	TF binding region
STX3	TF binding region
ENSG00000172289	Chromatin interaction
ENSG00000166900	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1151063	0.84[AMR][1000 genomes]
rs1151064	0.80[AMR][1000 genomes]
rs11820340	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12270043	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12275314	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276956	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12280446	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282618	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1287111	0.84[AMR][1000 genomes]
rs1290460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046	0.80[ASN][1000 genomes]
rs17154025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154142	1.00[EUR][1000 genomes]
rs17154205	1.00[EUR][1000 genomes]
rs17154216	1.00[EUR][1000 genomes]
rs17154220	1.00[EUR][1000 genomes]
rs2298589	1.00[EUR][1000 genomes]
rs2447309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2447310	0.84[AMR][1000 genomes]
rs2508335	0.80[AMR][1000 genomes]
rs2508339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509274	0.80[AMR][1000 genomes]
rs2509275	0.80[AMR][1000 genomes]
rs2509279	0.82[AMR][1000 genomes]
rs2927183	0.80[AMR][1000 genomes]
rs2927184	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2957223	0.86[AMR][1000 genomes]
rs2957227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110321	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471369	0.82[AMR][1000 genomes]
rs472152	0.84[AMR][1000 genomes]
rs473087	0.82[AMR][1000 genomes]
rs473912	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473979	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475145	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475706	0.82[AMR][1000 genomes]
rs477577	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs477729	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs478924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs479264	0.80[AMR][1000 genomes]
rs481893	0.82[AMR][1000 genomes]
rs484814	0.80[AMR][1000 genomes]
rs485803	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs486587	0.80[AMR][1000 genomes]
rs487312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs493025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs494110	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs496492	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs496938	0.80[AMR][1000 genomes]
rs497596	0.82[AMR][1000 genomes]
rs498099	0.80[AMR][1000 genomes]
rs498165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs498299	0.82[AMR][1000 genomes]
rs499037	0.84[AMR][1000 genomes]
rs499054	0.82[AMR][1000 genomes]
rs501288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504016	0.84[AMR][1000 genomes]
rs504320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs506384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs507235	0.80[AMR][1000 genomes]
rs508411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs510122	0.80[AMR][1000 genomes]
rs511263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs511785	0.80[AMR][1000 genomes]
rs512690	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs513979	0.84[AMR][1000 genomes]
rs519605	0.80[AMR][1000 genomes]
rs520622	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs522957	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs523932	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs524102	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs526672	0.80[AMR][1000 genomes]
rs529270	0.80[AMR][1000 genomes]
rs532293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs533166	0.82[AMR][1000 genomes]
rs536544	0.82[AMR][1000 genomes]
rs537595	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs537625	0.84[AMR][1000 genomes]
rs538169	0.82[AMR][1000 genomes]
rs540989	0.84[AMR][1000 genomes]
rs548163	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs549086	0.80[AMR][1000 genomes]
rs550189	0.82[AMR][1000 genomes]
rs550449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552601	0.82[AMR][1000 genomes]
rs554460	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555175	0.80[AMR][1000 genomes]
rs555251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs559192	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561029	0.80[AMR][1000 genomes]
rs562076	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs562657	0.82[AMR][1000 genomes]
rs563267	0.82[AMR][1000 genomes]
rs563800	0.80[AMR][1000 genomes]
rs565026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs567253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs567485	0.80[AMR][1000 genomes]
rs569326	0.80[AMR][1000 genomes]
rs571451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572138	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577224	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577644	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59057725	1.00[EUR][1000 genomes]
rs60146927	1.00[EUR][1000 genomes]
rs60628632	1.00[EUR][1000 genomes]
rs60659006	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61370741	1.00[EUR][1000 genomes]
rs73488820	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488834	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7927187	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937245	1.00[EUR][1000 genomes]
rs7937684	1.00[EUR][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	nsv517878	chr11:59441271-59480969	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59472400-59478200	Enhancers	NHEK	skin
2	chr11:59472800-59478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:59472800-59478200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:59473800-59478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:59475000-59477800	Weak transcription	Hela-S3	cervix
6	chr11:59475400-59483200	Weak transcription	K562	blood
7	chr11:59476400-59477800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:59476400-59477800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:59476400-59477800	Weak transcription	A549	lung
10	chr11:59476400-59478000	Weak transcription	HMEC	breast
11	chr11:59476600-59478000	Weak transcription	HSMM	muscle
12	chr11:59476800-59477800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:59476800-59478000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:59477000-59478200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:59477200-59478000	Weak transcription	NHLF	lung
16	chr11:59477200-59478200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:59477200-59478200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:59477600-59478200	Enhancers	Osteobl	bone

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