Variant report

Variant	rs73084295
Chromosome Location	chr1:213188456-213188457
allele	G/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	RUNX3	chr1:213188377-213189322	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:213188445-213189298	ECC-1	luminal epithelium:	n/a	n/a
3	SIN3A	chr1:213187995-213189327	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:213188421-213189357	GM12878	blood:	n/a	n/a
5	STAT3	chr1:213188078-213188457	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F6	chr1:213188238-213189371	H1-hESC	embryonic stem cell:	n/a	chr1:213189040-213189050
7	MAX	chr1:213188044-213189356	K562	blood:	n/a	chr1:213188520-213188536
8	REST	chr1:213188147-213189421	H1-neurons	neurons:	n/a	n/a
9	MAX	chr1:213188434-213189330	HepG2	liver:	n/a	chr1:213188520-213188536
10	MYC	chr1:213188036-213189439	K562	blood:	n/a	chr1:213188520-213188536
11	POLR2A	chr1:213188399-213189336	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:213187368-213189944	K562	blood:	n/a	n/a
13	MAX	chr1:213188005-213189422	NB4	blood:	n/a	chr1:213188520-213188536
14	POLR2A	chr1:213187556-213189480	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:213188427-213189385	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:213187892-213189383	K562	blood:	n/a	n/a
17	ELF1	chr1:213188430-213189399	GM12878	blood:	n/a	n/a
18	CBX3	chr1:213187974-213189385	K562	blood:	n/a	n/a
19	MAX	chr1:213188305-213189373	SK-N-SH	brain:	n/a	chr1:213188520-213188536
20	MAX	chr1:213187984-213189389	K562	blood:	n/a	chr1:213188520-213188536
21	CEBPB	chr1:213187994-213189416	Hela-S3	cervix:	n/a	n/a
22	RFX5	chr1:213188126-213189425	Hela-S3	cervix:	n/a	n/a
23	PML	chr1:213188299-213189441	GM12878	blood:	n/a	n/a
24	MYC	chr1:213188220-213189327	Hela-S3	cervix:	n/a	chr1:213188520-213188536
25	POLR2A	chr1:213188452-213189286	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:213187974-213189446	Raji	blood:	n/a	n/a
27	TCF12	chr1:213188448-213188831	GM12878	blood:	n/a	n/a
28	YY1	chr1:213188284-213189701	SK-N-SH	brain:	n/a	chr1:213189263-213189285
29	POLR2A	chr1:213188397-213189376	K562	blood:	n/a	n/a
30	POLR2A	chr1:213188434-213189366	GM19193	blood:	n/a	n/a
31	TCF12	chr1:213188337-213189436	ECC-1	luminal epithelium:	n/a	n/a
32	GABPA	chr1:213188309-213189374	MCF-7	breast:	n/a	chr1:213189234-213189248 chr1:213189234-213189245
33	TAF1	chr1:213188379-213189353	ECC-1	luminal epithelium:	n/a	n/a
34	CREB1	chr1:213188404-213189375	A549	lung:	n/a	n/a
35	WRNIP1	chr1:213188001-213189338	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:213187989-213189388	GM19099	blood:	n/a	n/a
37	E2F6	chr1:213188386-213189397	H1-hESC	embryonic stem cell:	n/a	chr1:213189040-213189050
38	MAZ	chr1:213188150-213189409	K562	blood:	n/a	chr1:213188520-213188536
39	ZNF263	chr1:213188418-213189273	HEK293-T-REx	kidney:	n/a	n/a
40	POLR2A	chr1:213188405-213189329	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:213187956-213189405	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:213188426-213189496	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr1:213188425-213189336	ECC-1	luminal epithelium:	n/a	n/a
44	SIN3AK20	chr1:213188315-213189207	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr1:213188442-213189411	MCF-7	breast:	n/a	n/a
46	MAZ	chr1:213188422-213189341	Hela-S3	cervix:	n/a	chr1:213188520-213188536
47	KAP1	chr1:213188422-213189305	U2OS	brain:	n/a	n/a
48	CTCF	chr1:213188449-213188663	K562	blood:	n/a	n/a
49	ELF1	chr1:213188298-213189404	GM12878	blood:	n/a	n/a
50	E2F6	chr1:213188409-213188856	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213187916..213189691-chr1:213222882..213226054,4	K562	blood:
2	chr1:213188301..213188806-chr12:6644413..6644968,2	Hela-S3	cervix:
3	chr1:213187916..213191474-chr1:213223097..213226356,5	K562	blood:
4	chr1:213172351..213174511-chr1:213188133..213190817,2	K562	blood:
5	chr1:212780951..212783989-chr1:213187661..213190726,3	K562	blood:
6	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:

Variant related genes	Relation type
ANGEL2	TF binding region
ENSG00000198468	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000136643	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs35694574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41296720	1.00[AMR][1000 genomes]
rs41300021	1.00[AMR][1000 genomes]
rs57219112	1.00[AMR][1000 genomes]
rs57638446	1.00[AMR][1000 genomes]
rs57750357	1.00[AMR][1000 genomes]
rs58860298	1.00[AMR][1000 genomes]
rs59595887	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	1.00[AMR][1000 genomes]
rs73075730	1.00[AMR][1000 genomes]
rs73075736	1.00[AMR][1000 genomes]
rs73075738	1.00[AMR][1000 genomes]
rs73075782	1.00[AMR][1000 genomes]
rs73077863	1.00[AMR][1000 genomes]
rs73077871	1.00[AMR][1000 genomes]
rs73079978	1.00[AMR][1000 genomes]
rs73079997	1.00[AMR][1000 genomes]
rs73080000	1.00[AMR][1000 genomes]
rs73083787	1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73086317	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086335	1.00[AMR][1000 genomes]
rs73086365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086369	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093616	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093622	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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:213186800-213189800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:213187000-213189600	Active TSS	GM12878-XiMat	blood
3	chr1:213187200-213189800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:213187200-213189800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:213187400-213189400	Active TSS	Colon Smooth Muscle	Colon
6	chr1:213187400-213189400	Active TSS	NHDF-Ad	bronchial
7	chr1:213187400-213189600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:213187400-213189800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:213187600-213188600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:213187600-213189600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:213187600-213189600	Active TSS	A549	lung
12	chr1:213187600-213189800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:213187600-213190400	Active TSS	K562	blood
14	chr1:213187800-213188600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:213187800-213188600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:213187800-213188800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:213187800-213189200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:213187800-213189400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr1:213187800-213189400	Active TSS	Right Atrium	heart
20	chr1:213187800-213189600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:213187800-213189600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:213187800-213189800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:213187800-213189800	Active TSS	HSMMtube	muscle
24	chr1:213188000-213188600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:213188000-213188600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:213188000-213188600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:213188000-213188600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr1:213188000-213188600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:213188000-213188800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:213188000-213188800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr1:213188000-213188800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:213188000-213188800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:213188000-213189200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:213188000-213189200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:213188000-213189200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:213188000-213189200	Active TSS	Lung	lung
37	chr1:213188000-213189400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:213188000-213189400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:213188000-213189400	Active TSS	Aorta	Aorta
40	chr1:213188000-213189400	Active TSS	Fetal Muscle Trunk	muscle
41	chr1:213188000-213189600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:213188000-213189600	Active TSS	Fetal Kidney	kidney
43	chr1:213188000-213189600	Active TSS	Ovary	ovary
44	chr1:213188000-213189800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:213188000-213189800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:213188000-213189800	Active TSS	HSMM	muscle
47	chr1:213188200-213188600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr1:213188200-213188600	Active TSS	Brain Germinal Matrix	brain
49	chr1:213188200-213189000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:213188200-213189200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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