Variant report

Variant	rs73550823
Chromosome Location	chr16:58767438-58767439
allele	A/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	MTA3	chr16:58766372-58768559	GM12878	blood:	n/a	n/a
2	RCOR1	chr16:58767048-58767848	GM12878	blood:	n/a	n/a
3	MYC	chr16:58767378-58767878	HepG2	liver:	n/a	n/a
4	ELF1	chr16:58767383-58767985	HepG2	liver:	n/a	chr16:58767608-58767617
5	TCF12	chr16:58767180-58768572	A549	lung:	n/a	chr16:58767515-58767522
6	CEBPB	chr16:58767114-58767449	K562	blood:	n/a	n/a
7	MAX	chr16:58767358-58767867	A549	lung:	n/a	n/a
8	MAX	chr16:58767329-58768513	HCT-116	colon:	n/a	n/a
9	POLR2A	chr16:58767027-58768628	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:58767347-58768562	HUVEC	blood vessel:	n/a	n/a
11	GABPA	chr16:58767369-58768636	MCF-7	breast:	n/a	chr16:58768296-58768305 chr16:58767630-58767639
12	MYC	chr16:58767419-58768523	K562	blood:	n/a	n/a
13	POLR2A	chr16:58767215-58767458	K562	blood:	n/a	n/a
14	CREB1	chr16:58766997-58768601	HepG2	liver:	n/a	chr16:58768266-58768279
15	TAF1	chr16:58767371-58768423	HepG2	liver:	n/a	n/a
16	TAF1	chr16:58767429-58767880	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr16:58767395-58767691	K562	blood:	n/a	chr16:58767574-58767586 chr16:58767573-58767584 chr16:58767544-58767554 chr16:58767603-58767613 chr16:58767655-58767664 chr16:58767606-58767616
18	RCOR1	chr16:58767164-58768473	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr16:58767386-58767742	K562	blood:	n/a	n/a
20	MAX	chr16:58767350-58768524	MCF-7	breast:	n/a	n/a
21	ELF1	chr16:58767346-58767824	K562	blood:	n/a	chr16:58767608-58767617
22	MAX	chr16:58767356-58768476	NB4	blood:	n/a	n/a
23	CEBPB	chr16:58767070-58767480	MCF-7	breast:	n/a	n/a
24	ARID3A	chr16:58767103-58767490	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:58767392-58768482	GM12878	blood:	n/a	n/a
26	E2F6	chr16:58767273-58767819	A549	lung:	n/a	chr16:58767574-58767586 chr16:58767573-58767584 chr16:58767544-58767554 chr16:58767603-58767613 chr16:58767655-58767664 chr16:58767606-58767616 chr16:58767697-58767707
27	SIN3A	chr16:58767211-58768554	H1-hESC	embryonic stem cell:	n/a	chr16:58767987-58768000
28	POLR2A	chr16:58766620-58768545	GM12878	blood:	n/a	n/a
29	MXI1	chr16:58767084-58768504	Hela-S3	cervix:	n/a	chr16:58767545-58767560
30	NR2F2	chr16:58767346-58767620	K562	blood:	n/a	n/a
31	PAX5	chr16:58767438-58767817	GM12892	blood:	n/a	chr16:58767768-58767777
32	MAX	chr16:58767402-58768448	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr16:58767277-58768522	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr16:58767340-58768594	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF263	chr16:58766744-58768537	HEK293-T-REx	kidney:	n/a	chr16:58768320-58768341
36	MYBL2	chr16:58767175-58768624	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:58767074-58767445	K562	blood:	n/a	n/a
38	UBTF	chr16:58767380-58768485	K562	blood:	n/a	n/a
39	CEBPB	chr16:58767121-58767956	IMR90	lung:	n/a	n/a
40	MAX	chr16:58767366-58768560	SK-N-SH	brain:	n/a	n/a
41	TAF1	chr16:58767330-58768555	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr16:58767346-58768554	Hela-S3	cervix:	n/a	n/a
43	CHD1	chr16:58766403-58768676	IMR90	lung:	n/a	n/a
44	POLR2A	chr16:58767367-58768519	Raji	blood:	n/a	n/a
45	MAZ	chr16:58766668-58768566	IMR90	lung:	n/a	n/a
46	POLR2A	chr16:58767430-58768433	A549	lung:	n/a	n/a
47	POLR2A	chr16:58766677-58768579	GM12892	blood:	n/a	n/a
48	SMARCC1	chr16:58767379-58768581	Hela-S3	cervix:	n/a	chr16:58767413-58767422
49	MAX	chr16:58767422-58767662	K562	blood:	n/a	n/a
50	CTCF	chr16:58766744-58768693	A549	lung:	n/a	chr16:58768293-58768306 chr16:58766789-58766796

No.	Distal block	Cell Line	Cell type
1	chr16:58663099..58664824-chr16:58766372..58767972,2	K562	blood:
2	chr16:58717131..58719457-chr16:58766765..58768365,2	K562	blood:
3	chr16:58662850..58664824-chr16:58766472..58768052,2	K562	blood:
4	chr16:58521363..58523239-chr16:58765516..58767587,2	K562	blood:
5	chr16:58763681..58765319-chr16:58765617..58767662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245768	TF binding region
ENSG00000125107	Chromatin interaction
ENSG00000103042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12596795	1.00[EUR][1000 genomes]
rs13336275	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2304490	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28463297	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3743573	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4784973	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4784974	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4784975	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4784983	1.00[EUR][1000 genomes]
rs58703069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59515227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59574203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60175435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60561128	0.81[ASN][1000 genomes]
rs73549297	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73549298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73550809	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921474	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9933114	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9934653	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr16:58764200-58767800	Flanking Active TSS	Liver	Liver
2	chr16:58765800-58768600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr16:58766200-58767600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:58766400-58768200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:58766600-58767600	Flanking Active TSS	Fetal Brain Male	brain
6	chr16:58766600-58768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:58766600-58768000	Active TSS	Right Atrium	heart
8	chr16:58766600-58768400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr16:58766600-58768400	Active TSS	Left Ventricle	heart
10	chr16:58766600-58768400	Active TSS	Rectal Smooth Muscle	rectum
11	chr16:58766800-58767600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr16:58766800-58767600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr16:58766800-58767600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr16:58766800-58768200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:58766800-58768400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:58766800-58768400	Active TSS	Aorta	Aorta
17	chr16:58766800-58768400	Active TSS	Brain Germinal Matrix	brain
18	chr16:58766800-58768400	Active TSS	GM12878-XiMat	blood
19	chr16:58766800-58768600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:58766800-58768600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:58766800-58768600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:58767000-58767600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr16:58767000-58767600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:58767000-58767600	Flanking Active TSS	Thymus	Thymus
25	chr16:58767000-58767800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr16:58767000-58767800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr16:58767000-58767800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr16:58767000-58768000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr16:58767000-58768200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr16:58767000-58768200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr16:58767000-58768200	Active TSS	Esophagus	oesophagus
32	chr16:58767000-58768200	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr16:58767000-58768400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr16:58767000-58768400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:58767000-58768400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:58767000-58768400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr16:58767000-58768400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:58767000-58768400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr16:58767000-58768400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:58767000-58768400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:58767000-58768400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:58767000-58768400	Active TSS	Colon Smooth Muscle	Colon
43	chr16:58767000-58768400	Active TSS	Fetal Intestine Large	intestine
44	chr16:58767000-58768400	Active TSS	Fetal Kidney	kidney
45	chr16:58767000-58768400	Active TSS	Fetal Muscle Trunk	muscle
46	chr16:58767000-58768400	Active TSS	Pancreas	Pancrea
47	chr16:58767000-58768400	Active TSS	A549	lung
48	chr16:58767000-58768400	Active TSS	HMEC	breast
49	chr16:58767000-58768400	Active TSS	K562	blood
50	chr16:58767000-58768600	Active TSS	H9 Cell Line	embryonic stem cell

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