Variant report

Variant	rs55989215
Chromosome Location	chr16:73050076-73050077
allele	A/C
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	CBX3	chr16:73049305-73050103	HCT-116	colon:	n/a	n/a
2	CHD2	chr16:73049885-73050747	GM12878	blood:	n/a	n/a
3	NFIC	chr16:73049803-73051046	GM12878	blood:	n/a	n/a
4	ZNF217	chr16:73049448-73050079	MCF-7	breast:	n/a	n/a
5	RUNX3	chr16:73049804-73050835	GM12878	blood:	n/a	n/a
6	MTA3	chr16:73049898-73050838	GM12878	blood:	n/a	n/a
7	MYC	chr16:73049436-73050285	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXM1	chr16:73049909-73050859	GM12878	blood:	n/a	n/a
9	RCOR1	chr16:73049885-73050747	GM12878	blood:	n/a	n/a
10	SP1	chr16:73049224-73050135	HCT-116	colon:	n/a	n/a
11	CEBPB	chr16:73049551-73050428	HepG2	liver:	n/a	chr16:73049772-73049785 chr16:73049774-73049783 chr16:73049772-73049783 chr16:73049774-73049785
12	STAT1	chr16:73050025-73050628	GM12878	blood:	n/a	chr16:73050206-73050214
13	MAX	chr16:73049680-73050106	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:73049740-73050623	HepG2	liver:	n/a	n/a
15	MYC	chr16:73049427-73050135	MCF10A-Er-Src	breast:	n/a	n/a
16	JUND	chr16:73049701-73050476	HepG2	liver:	n/a	n/a
17	EP300	chr16:73049941-73050590	GM12878	blood:	n/a	chr16:73050448-73050462 chr16:73050450-73050464
18	NFIC	chr16:73049804-73050643	HepG2	liver:	n/a	n/a
19	SRF	chr16:73049345-73050207	MCF-7	breast:	n/a	n/a
20	ELF1	chr16:73050002-73050242	HepG2	liver:	n/a	n/a
21	MAX	chr16:73049361-73050123	MCF-7	breast:	n/a	n/a
22	FOXA1	chr16:73049526-73050331	HepG2	liver:	n/a	n/a
23	MEF2C	chr16:73049887-73050825	GM12878	blood:	n/a	n/a
24	MAX	chr16:73049471-73050397	HepG2	liver:	n/a	n/a
25	BATF	chr16:73049904-73050765	GM12878	blood:	n/a	n/a
26	FOXA2	chr16:73049698-73050133	A549	lung:	n/a	n/a
27	SP1	chr16:73049897-73050744	GM12878	blood:	n/a	n/a
28	SPI1	chr16:73049926-73050283	HL-60	blood:	n/a	chr16:73050114-73050123 chr16:73050113-73050126 chr16:73050112-73050125
29	BHLHE40	chr16:73049881-73050937	GM12878	blood:	n/a	n/a
30	EP300	chr16:73049705-73050426	HepG2	liver:	n/a	chr16:73049773-73049787 chr16:73049710-73049726
31	SP1	chr16:73049925-73050719	GM12878	blood:	n/a	n/a
32	TCF7L2	chr16:73049356-73050180	MCF-7	breast:	n/a	n/a
33	MEF2A	chr16:73049948-73050810	GM12878	blood:	n/a	n/a
34	MYBL2	chr16:73049849-73050412	HepG2	liver:	n/a	n/a
35	EP300	chr16:73049928-73050382	HepG2	liver:	n/a	n/a
36	FOXA1	chr16:73049603-73050424	HepG2	liver:	n/a	n/a
37	SPI1	chr16:73049481-73050631	GM12878	blood:	n/a	chr16:73050114-73050123 chr16:73050113-73050126 chr16:73049661-73049674 chr16:73050112-73050125
38	SPI1	chr16:73049835-73050572	GM12891	blood:	n/a	chr16:73050114-73050123 chr16:73050113-73050126 chr16:73050112-73050125
39	FOXA1	chr16:73049591-73050419	HepG2	liver:	n/a	n/a
40	RUNX3	chr16:73049719-73050797	GM12878	blood:	n/a	n/a
41	CEBPB	chr16:73049581-73050284	HepG2	liver:	n/a	chr16:73049772-73049785 chr16:73049774-73049783 chr16:73049772-73049783 chr16:73049774-73049785
42	CUX1	chr16:73050036-73050553	GM12878	blood:	n/a	n/a
43	ATF2	chr16:73049866-73050759	GM12878	blood:	n/a	n/a
44	CEBPB	chr16:73049338-73050125	MCF-7	breast:	n/a	chr16:73049772-73049785 chr16:73049774-73049783 chr16:73049772-73049783 chr16:73049774-73049785
45	CEBPB	chr16:73049250-73050886	HCT-116	colon:	n/a	chr16:73049772-73049785 chr16:73049774-73049783 chr16:73049772-73049783 chr16:73049774-73049785
46	MAX	chr16:73049753-73050340	GM12878	blood:	n/a	n/a
47	MAX	chr16:73049410-73050123	MCF-7	breast:	n/a	n/a
48	BCL11A	chr16:73049874-73050673	GM12878	blood:	n/a	n/a
49	HDAC2	chr16:73049581-73050391	HepG2	liver:	n/a	chr16:73050289-73050303
50	STAT5A	chr16:73049999-73050774	GM12878	blood:	n/a	chr16:73050206-73050214

No.	Distal block	Cell Line	Cell type
1	chr16:73031109..73034077-chr16:73048729..73050269,2	MCF-7	breast:
2	chr16:73050031..73052152-chr16:73076520..73078945,2	MCF-7	breast:
3	chr16:73048726..73050990-chr16:73083446..73086063,2	MCF-7	breast:
4	chr16:73030394..73031222-chr16:73049439..73050209,2	MCF-7	breast:
5	chr16:72963067..72963992-chr16:73049471..73050265,6	MCF-7	breast:
6	chr16:73030735..73031294-chr16:73049626..73050223,2	MCF-7	breast:
7	chr16:72946709..72947866-chr16:73049311..73050376,3	MCF-7	breast:
8	chr16:73049713..73052075-chr16:73126664..73128692,2	MCF-7	breast:
9	chr16:73049519..73050143-chr16:73089033..73089911,2	MCF-7	breast:
10	chr16:73048377..73052863-chr16:73053930..73057468,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272330	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11860416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688024	0.90[EUR][1000 genomes]
rs58876449	0.82[ASN][1000 genomes]
rs6499604	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499605	0.81[ASN][1000 genomes]
rs7203164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73594757	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74030209	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74030210	0.90[EUR][1000 genomes];0.88[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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73035000-73050400	Weak transcription	NHLF	lung
2	chr16:73035600-73053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:73043200-73050400	Weak transcription	NHDF-Ad	bronchial
4	chr16:73044600-73050200	Weak transcription	Hela-S3	cervix
5	chr16:73044600-73050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:73044600-73052600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:73044600-73052800	Weak transcription	Spleen	Spleen
8	chr16:73044600-73053000	Weak transcription	Fetal Stomach	stomach
9	chr16:73044600-73053200	Weak transcription	Brain Angular Gyrus	brain
10	chr16:73044800-73050200	Weak transcription	HUVEC	blood vessel
11	chr16:73044800-73052200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:73044800-73052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:73044800-73053000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:73046200-73050200	Weak transcription	Fetal Heart	heart
15	chr16:73046200-73050200	Weak transcription	HSMM	muscle
16	chr16:73046200-73050600	Weak transcription	Aorta	Aorta
17	chr16:73046600-73050200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:73047200-73052800	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:73047800-73051800	Enhancers	Pancreas	Pancrea
20	chr16:73048000-73052600	Weak transcription	Osteobl	bone
21	chr16:73048800-73051600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr16:73049000-73050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:73049000-73050800	Enhancers	Fetal Kidney	kidney
24	chr16:73049000-73051200	Enhancers	Adipose Nuclei	Adipose
25	chr16:73049000-73051800	Enhancers	Liver	Liver
26	chr16:73049000-73051800	Enhancers	Lung	lung
27	chr16:73049000-73051800	Enhancers	Stomach Mucosa	stomach
28	chr16:73049000-73052000	Enhancers	Fetal Intestine Large	intestine
29	chr16:73049000-73052000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr16:73049200-73050400	Enhancers	HMEC	breast
31	chr16:73049200-73050600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:73049200-73050600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:73049200-73050800	Enhancers	NHEK	skin
34	chr16:73049200-73051000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:73049400-73050200	Enhancers	Colonic Mucosa	Colon
36	chr16:73049400-73050200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr16:73049400-73050800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:73049400-73050800	Flanking Active TSS	HepG2	liver
39	chr16:73049400-73051000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr16:73049400-73051000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr16:73049400-73051200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:73049400-73051200	Enhancers	Primary hematopoietic stem cells	blood
43	chr16:73049400-73051800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:73049400-73051800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:73049400-73051800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr16:73049400-73052000	Enhancers	Fetal Lung	lung
47	chr16:73049400-73069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr16:73049600-73050200	Enhancers	Placenta	Placenta
49	chr16:73049600-73051000	Flanking Active TSS	GM12878-XiMat	blood
50	chr16:73049600-73051400	Enhancers	Small Intestine	intestine

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