Variant report

Variant	rs73773330
Chromosome Location	chr5:90515951-90515952
allele	C/G
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	CTCF	chr5:90515397-90516122	SK-N-SH	brain:	n/a	chr5:90516084-90516093 chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
2	RAD21	chr5:90514980-90515985	IMR90	lung:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
3	RAD21	chr5:90515556-90516051	ECC-1	luminal epithelium:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
4	CTCF	chr5:90515511-90516033	MCF-7	breast:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
5	RAD21	chr5:90515247-90516047	MCF-7	breast:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
6	RAD21	chr5:90515542-90515982	H1-hESC	embryonic stem cell:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
7	RAD21	chr5:90515530-90516042	ECC-1	luminal epithelium:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
8	CTCF	chr5:90515591-90516008	K562	blood:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
9	RAD21	chr5:90515393-90516079	A549	lung:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
10	SMC3	chr5:90515415-90516233	SK-N-SH	brain:	n/a	chr5:90515957-90515967 chr5:90515787-90515801 chr5:90516080-90516094
11	CTCF	chr5:90515583-90515956	HepG2	liver:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
12	RAD21	chr5:90515454-90516103	SK-N-SH	brain:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
13	RAD21	chr5:90515562-90515993	MCF-7	breast:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
14	GATA3	chr5:90514462-90515964	A549	lung:	n/a	chr5:90514798-90514814 chr5:90514866-90514875 chr5:90514802-90514811
15	SMC3	chr5:90515587-90515978	GM12878	blood:	n/a	chr5:90515957-90515967 chr5:90515787-90515801
16	RAD21	chr5:90515536-90516040	A549	lung:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
17	CTCF	chr5:90515593-90516003	MCF-7	breast:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
18	CTCF	chr5:90515592-90515980	GM12878	blood:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
19	RAD21	chr5:90515556-90516004	H1-hESC	embryonic stem cell:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
20	RAD21	chr5:90515556-90515980	SK-N-SH_RA	brain:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
21	STAT1	chr5:90514798-90515960	Hela-S3	cervix:	n/a	chr5:90515497-90515505
22	CTCF	chr5:90515526-90516138	HCT-116	colon:	n/a	chr5:90516084-90516093 chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
23	RAD21	chr5:90515603-90516018	H1-hESC	embryonic stem cell:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
24	CTCF	chr5:90515589-90515974	IMR90	lung:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
25	CTCF	chr5:90515920-90516070	GM12864	blood:	n/a	n/a
26	CTCF	chr5:90515582-90515967	A549	lung:	n/a	chr5:90515785-90515803 chr5:90515787-90515808 chr5:90515788-90515801
27	RAD21	chr5:90514781-90515972	Hela-S3	cervix:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
28	RAD21	chr5:90515550-90516039	HCT-116	colon:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
29	RAD21	chr5:90515502-90516117	HCT-116	colon:	n/a	chr5:90515791-90515803 chr5:90515957-90515967 chr5:90515786-90515805
30	TCF12	chr5:90514511-90516004	A549	lung:	n/a	chr5:90515496-90515504

No.	Distal block	Cell Line	Cell type
1	chr5:90457529..90462053-chr5:90513611..90518131,5	MCF-7	breast:
2	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
3	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
4	chr5:90515297..90516283-chr5:90715097..90715818,3	K562	blood:
5	chr5:90398592..90401389-chr5:90514877..90517516,2	MCF-7	breast:
6	chr5:90514693..90517546-chr5:90521705..90523239,2	MCF-7	breast:
7	chr5:90514828..90516837-chr5:90519482..90521543,2	MCF-7	breast:
8	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:
9	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
10	chr5:90514930..90517107-chr5:90575291..90577972,2	MCF-7	breast:
11	chr5:90514822..90516620-chr5:90517523..90520846,3	MCF-7	breast:
12	chr5:90515350..90516235-chr5:90680436..90681312,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212930	TF binding region
ENSG00000212930	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000234292	Chromatin interaction
ENSG00000251093	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10059932	0.91[EUR][1000 genomes]
rs10072875	0.84[EUR][1000 genomes]
rs10473941	0.91[EUR][1000 genomes]
rs10473942	0.91[EUR][1000 genomes]
rs10474344	0.84[EUR][1000 genomes]
rs10474345	0.84[EUR][1000 genomes]
rs13362365	0.89[EUR][1000 genomes]
rs28379688	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28490868	0.91[EUR][1000 genomes]
rs55657470	0.91[EUR][1000 genomes]
rs55818598	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55989779	0.91[EUR][1000 genomes]
rs56082303	0.88[EUR][1000 genomes]
rs56320224	0.81[EUR][1000 genomes]
rs56410910	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57891485	0.91[EUR][1000 genomes]
rs58520625	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59967608	0.89[EUR][1000 genomes]
rs6877491	0.81[EUR][1000 genomes]
rs73773329	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73773334	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73773337	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv508369	chr5:90487017-90518540	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90514200-90516600	Enhancers	Hela-S3	cervix
2	chr5:90514200-90517200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:90514400-90516000	Enhancers	Primary B cells from cord blood	blood
4	chr5:90514400-90516000	Enhancers	Adipose Nuclei	Adipose
5	chr5:90514400-90516200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:90514400-90516200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:90514800-90516400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:90515000-90516000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:90515000-90516000	Enhancers	HSMM	muscle
10	chr5:90515200-90516000	Enhancers	Brain Hippocampus Middle	brain
11	chr5:90515200-90516200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:90515200-90516400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:90515200-90519200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:90515200-90519800	Enhancers	Placenta	Placenta
15	chr5:90515400-90516000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:90515600-90516200	Enhancers	Colon Smooth Muscle	Colon
17	chr5:90515600-90516400	Enhancers	A549	lung
18	chr5:90515600-90517000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:90515600-90519600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:90515600-90524200	Weak transcription	HMEC	breast
21	chr5:90515600-90524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:90515800-90516200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:90515800-90516200	Enhancers	Osteobl	bone
24	chr5:90515800-90517800	Weak transcription	Stomach Mucosa	stomach
25	chr5:90515800-90519400	Weak transcription	NHDF-Ad	bronchial
26	chr5:90515800-90519600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:90515800-90520600	Weak transcription	HSMMtube	muscle

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