Variant report

Variant	rs55794437
Chromosome Location	chr2:56370080-56370081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr2:56369847-56370207	K562	blood:	n/a	n/a
2	ZBTB7A	chr2:56369847-56370213	K562	blood:	n/a	n/a
3	YY1	chr2:56369890-56370096	K562	blood:	n/a	n/a
4	POLR2A	chr2:56369862-56370328	K562	blood:	n/a	n/a
5	CEBPD	chr2:56369856-56370268	K562	blood:	n/a	n/a
6	MYC	chr2:56369842-56370206	K562	blood:	n/a	n/a
7	POLR2A	chr2:56369875-56370172	K562	blood:	n/a	n/a
8	ZBTB7A	chr2:56369884-56370107	K562	blood:	n/a	n/a
9	RCOR1	chr2:56369815-56370365	K562	blood:	n/a	n/a
10	TBL1XR1	chr2:56369865-56370207	K562	blood:	n/a	n/a
11	UBTF	chr2:56369831-56370129	K562	blood:	n/a	n/a
12	CCNT2	chr2:56369943-56370092	K562	blood:	n/a	n/a
13	TAL1	chr2:56369994-56370188	K562	blood:	n/a	n/a
14	JUND	chr2:56369830-56370357	K562	blood:	n/a	n/a
15	TAF1	chr2:56369904-56370104	K562	blood:	n/a	n/a
16	TEAD4	chr2:56369852-56370227	K562	blood:	n/a	n/a
17	GTF2B	chr2:56369950-56370149	K562	blood:	n/a	n/a
18	YY1	chr2:56370013-56370550	K562	blood:	n/a	n/a
19	MAX	chr2:56369844-56370202	K562	blood:	n/a	n/a
20	HEY1	chr2:56369865-56370148	K562	blood:	n/a	n/a
21	MYC	chr2:56369829-56370200	K562	blood:	n/a	n/a
22	FOXA2	chr2:56369608-56370258	A549	lung:	n/a	n/a
23	CBX3	chr2:56369741-56370525	K562	blood:	n/a	n/a
24	CHD2	chr2:56369846-56370223	K562	blood:	n/a	n/a
25	POLR2A	chr2:56369862-56370225	K562	blood:	n/a	n/a
26	TBP	chr2:56369822-56370193	K562	blood:	n/a	n/a
27	HMGN3	chr2:56369852-56370099	K562	blood:	n/a	n/a
28	EGR1	chr2:56369884-56370186	K562	blood:	n/a	n/a
29	POLR2A	chr2:56369868-56370125	K562	blood:	n/a	n/a
30	FOXA1	chr2:56369832-56370116	HepG2	liver:	n/a	n/a
31	MAX	chr2:56369893-56370116	K562	blood:	n/a	n/a
32	EP300	chr2:56369825-56370208	K562	blood:	n/a	n/a
33	ZMIZ1	chr2:56369940-56370200	K562	blood:	n/a	n/a
34	YY1	chr2:56369846-56370574	K562	blood:	n/a	n/a
35	MAZ	chr2:56369833-56370198	K562	blood:	n/a	n/a
36	TAF1	chr2:56369892-56370168	K562	blood:	n/a	n/a
37	ELF1	chr2:56369851-56370105	K562	blood:	n/a	n/a
38	HEY1	chr2:56369887-56370206	K562	blood:	n/a	n/a
39	IRF1	chr2:56369837-56370135	K562	blood:	n/a	n/a
40	MAX	chr2:56369854-56370165	K562	blood:	n/a	n/a
41	GTF2F1	chr2:56370028-56370140	K562	blood:	n/a	n/a
42	TEAD4	chr2:56369859-56370199	K562	blood:	n/a	n/a
43	POLR2A	chr2:56369840-56370210	K562	blood:	n/a	n/a
44	EGR1	chr2:56369866-56370243	K562	blood:	n/a	n/a
45	HDAC2	chr2:56369887-56370194	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56369334..56371717-chr2:56376735..56378498,2	K562	blood:
2	chr2:56369245..56372888-chr2:56373093..56376542,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271894	TF binding region
ENSG00000271894	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10490394	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432555	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17189988	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1961746	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2021413	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672087	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672090	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672092	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55809599	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6722720	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739384	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6743269	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751834	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798994	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72798995	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72801106	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72801108	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72801110	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72801117	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72801145	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised 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 miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34703	chr2:56272949-56382181	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874164	chr2:56280428-56388746	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874165	chr2:56280428-56393918	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv9824	chr2:56282176-56392083	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv874166	chr2:56282762-56370879	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874167	chr2:56284418-56388746	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv457952	chr2:56292883-56388746	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv582031	chr2:56292883-56388746	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv874168	chr2:56363377-56393918	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56350600-56375000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:56369600-56370600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr2:56370000-56370200	Active TSS	K562	blood
4	chr2:56370000-56370400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:56370000-56370600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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