Variant report

Variant	rs57188196
Chromosome Location	chr1:213190575-213190576
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:213190203-213191679	K562	blood:	n/a	chr1:213190217-213190226 chr1:213191411-213191420
2	TBP	chr1:213190197-213191248	K562	blood:	n/a	n/a
3	EP300	chr1:213190244-213190594	GM12878	blood:	n/a	chr1:213190354-213190363
4	CUX1	chr1:213190358-213190782	K562	blood:	n/a	n/a
5	ARID3A	chr1:213190196-213191626	K562	blood:	n/a	n/a
6	POLR2A	chr1:213190572-213190587	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr1:213190335-213190663	K562	blood:	n/a	n/a
8	MAFK	chr1:213190275-213191383	K562	blood:	n/a	n/a
9	ZNF384	chr1:213189950-213191193	K562	blood:	n/a	n/a
10	STAT3	chr1:213190528-213190722	MCF10A-Er-Src	breast:	n/a	n/a
11	CBX3	chr1:213190522-213191529	K562	blood:	n/a	chr1:213191492-213191503

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:213190571-213190621	GM12878	blood:	n/a
2	chr1:213190571-213190621	IMR90	lung:	fetal
3	chr1:213190571-213190621	AG04450	lung:	fetal
4	chr1:213190571-213190621	HRCEpiC	kidney:	n/a
5	chr1:213190571-213190621	HCF	heart:	n/a
6	chr1:213190571-213190621	ProgFib	skin:	n/a
7	chr1:213190571-213190621	HCT-116	colon:	n/a
8	chr1:213190571-213190621	HMEC	breast:	n/a
9	chr1:213190571-213190621	SK-N-MC	brain:	n/a
10	chr1:213190571-213190621	HIPEpiC	eye:	n/a
11	chr1:213190571-213190621	HAEpiC	amniotic membrane:	n/a
12	chr1:213190571-213190621	HEK293	kidney:	embryo
13	chr1:213190571-213190621	AG09319	gingival:	n/a
14	chr1:213190571-213190621	HUVEC	blood vessel:	n/a
15	chr1:213190571-213190621	PANC-1	pancreas:	n/a
16	chr1:213190571-213190621	HRE	kidney:	n/a
17	chr1:213190571-213190621	T-47D	breast:	n/a
18	chr1:213190571-213190621	MCF10A-Er-Src	breast:	n/a
19	chr1:213190571-213190621	ECC-1	luminal epithelium:	n/a
20	chr1:213190571-213190621	ovcar-3	ovarian:	n/a
21	chr1:213190571-213190621	GM19239	blood:	n/a
22	chr1:213190571-213190621	NHDF-neo	bronchial:	n/a
23	chr1:213190571-213190621	GM06990	blood:	n/a
24	chr1:213190571-213190621	CMK	blood:	n/a
25	chr1:213190571-213190621	NHBE	bronchial:	n/a
26	chr1:213190571-213190621	RPTEC	kidney:	n/a
27	chr1:213190571-213190621	GM12892	blood:	n/a
28	chr1:213190571-213190621	GM12891	blood:	n/a
29	chr1:213190571-213190621	PrEC	prostate:	n/a
30	chr1:213190571-213190621	HEEpiC	esophagus:	n/a
31	chr1:213190571-213190621	HCPEpiC	choroid plexus:	n/a
32	chr1:213190571-213190621	AG10803	skin:	n/a
33	chr1:213190571-213190621	K562	blood:	n/a
34	chr1:213190571-213190621	SAEC	small airway:	n/a
35	chr1:213190571-213190621	HCM	heart:	n/a
36	chr1:213190571-213190621	AG04449	skin:	fetal
37	chr1:213190571-213190621	LNCaP	prostate:	n/a
38	chr1:213190571-213190621	SK-N-SH_RA	brain:	n/a
39	chr1:213190571-213190621	NB4	blood:	n/a
40	chr1:213190571-213190621	HRPEpiC	eye:	n/a
41	chr1:213190571-213190621	NH-A	brain:	n/a
42	chr1:213190571-213190621	SKMC	muscle:	n/a
43	chr1:213190571-213190621	NT2-D1	testis:	n/a
44	chr1:213190571-213190621	MCF-7	breast:	n/a
45	chr1:213190571-213190621	AoSMC	blood vessel:	n/a
46	chr1:213190571-213190621	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:213190571-213190621	Caco-2	colon:	n/a
48	chr1:213190571-213190621	Hela-S3	cervix:	n/a
49	chr1:213190571-213190621	HepG2	liver:	n/a
50	chr1:213190571-213190621	HL-60	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213189838..213192290-chr1:213223097..213225633,3	K562	blood:
2	chr1:213187916..213191474-chr1:213223097..213226356,5	K562	blood:
3	chr1:213172351..213174511-chr1:213188133..213190817,2	K562	blood:
4	chr1:212780951..212783989-chr1:213187661..213190726,3	K562	blood:
5	chr1:213188825..213190728-chr1:213222994..213225299,2	MCF-7	breast:
6	chr1:213189175..213191478-chr1:213248143..213250768,2	K562	blood:
7	chr1:213189175..213191478-chr1:213247588..213250768,3	K562	blood:

No data

Variant related genes	Relation type
ANGEL2	TF binding region
ANGEL2	CpG island
ENSG00000136643	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000174606	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11120089	0.89[EUR][1000 genomes]
rs12065249	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17742003	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277160	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277162	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57140665	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs57352598	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57376645	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57845296	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58482452	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58711222	0.81[EUR][1000 genomes]
rs58865439	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59635750	0.81[EUR][1000 genomes]
rs59892045	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60194877	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415266	0.81[EUR][1000 genomes]
rs60727621	1.00[AFR][1000 genomes]
rs61385792	0.81[EUR][1000 genomes]
rs61832445	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832446	1.00[AFR][1000 genomes]
rs61832447	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832460	1.00[AFR][1000 genomes]
rs61832461	1.00[AFR][1000 genomes]
rs61832463	1.00[AFR][1000 genomes]
rs61832465	1.00[AFR][1000 genomes]
rs61832467	1.00[AFR][1000 genomes]
rs61832468	1.00[AFR][1000 genomes]
rs61832470	1.00[AFR][1000 genomes]
rs61832471	1.00[AFR][1000 genomes]
rs61832474	1.00[AFR][1000 genomes]
rs61832475	1.00[AFR][1000 genomes]
rs61832476	1.00[AFR][1000 genomes]
rs61834072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834077	1.00[AFR][1000 genomes]
rs61834080	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834082	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834083	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834084	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834086	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834087	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834088	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834089	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834091	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834092	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61834093	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834094	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834096	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834099	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834102	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834103	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834104	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834105	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834109	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834110	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834111	1.00[AFR][1000 genomes]
rs61834116	0.89[EUR][1000 genomes]
rs61834117	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834118	0.89[EUR][1000 genomes]
rs61834119	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834123	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61834126	1.00[AFR][1000 genomes]
rs61834135	1.00[AFR][1000 genomes]
rs61834136	1.00[AFR][1000 genomes]
rs61834137	1.00[AFR][1000 genomes]
rs61834139	1.00[AFR][1000 genomes]
rs61834140	1.00[AFR][1000 genomes]
rs61834141	1.00[AFR][1000 genomes]
rs61834142	1.00[AFR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213189400-213198600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:213189800-213190600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:213189800-213190800	Weak transcription	HepG2	liver
4	chr1:213189800-213191000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:213189800-213191200	Enhancers	A549	lung
6	chr1:213189800-213194000	Weak transcription	Spleen	Spleen
7	chr1:213190400-213190600	Enhancers	Dnd41	blood
8	chr1:213190400-213191600	Flanking Active TSS	K562	blood

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