Variant report

Variant	rs62167274
Chromosome Location	chr2:56370133-56370134
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 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	POLR2A	chr2:56369862-56370328	K562	blood:	n/a	n/a
4	CEBPD	chr2:56369856-56370268	K562	blood:	n/a	n/a
5	MYC	chr2:56369842-56370206	K562	blood:	n/a	n/a
6	POLR2A	chr2:56369875-56370172	K562	blood:	n/a	n/a
7	RCOR1	chr2:56369815-56370365	K562	blood:	n/a	n/a
8	TBL1XR1	chr2:56369865-56370207	K562	blood:	n/a	n/a
9	TAL1	chr2:56369994-56370188	K562	blood:	n/a	n/a
10	JUND	chr2:56369830-56370357	K562	blood:	n/a	n/a
11	TEAD4	chr2:56369852-56370227	K562	blood:	n/a	n/a
12	GTF2B	chr2:56369950-56370149	K562	blood:	n/a	n/a
13	YY1	chr2:56370013-56370550	K562	blood:	n/a	n/a
14	MAX	chr2:56369844-56370202	K562	blood:	n/a	n/a
15	HEY1	chr2:56369865-56370148	K562	blood:	n/a	n/a
16	MYC	chr2:56369829-56370200	K562	blood:	n/a	n/a
17	FOXA2	chr2:56369608-56370258	A549	lung:	n/a	n/a
18	CBX3	chr2:56369741-56370525	K562	blood:	n/a	n/a
19	CHD2	chr2:56369846-56370223	K562	blood:	n/a	n/a
20	POLR2A	chr2:56369862-56370225	K562	blood:	n/a	n/a
21	TBP	chr2:56369822-56370193	K562	blood:	n/a	n/a
22	EGR1	chr2:56369884-56370186	K562	blood:	n/a	n/a
23	YY1	chr2:56370118-56370278	K562	blood:	n/a	n/a
24	EP300	chr2:56369825-56370208	K562	blood:	n/a	n/a
25	ZMIZ1	chr2:56369940-56370200	K562	blood:	n/a	n/a
26	YY1	chr2:56369846-56370574	K562	blood:	n/a	n/a
27	MAZ	chr2:56369833-56370198	K562	blood:	n/a	n/a
28	TAF1	chr2:56369892-56370168	K562	blood:	n/a	n/a
29	HEY1	chr2:56369887-56370206	K562	blood:	n/a	n/a
30	IRF1	chr2:56369837-56370135	K562	blood:	n/a	n/a
31	MAX	chr2:56369854-56370165	K562	blood:	n/a	n/a
32	GTF2F1	chr2:56370028-56370140	K562	blood:	n/a	n/a
33	TEAD4	chr2:56369859-56370199	K562	blood:	n/a	n/a
34	POLR2A	chr2:56369840-56370210	K562	blood:	n/a	n/a
35	EGR1	chr2:56369866-56370243	K562	blood:	n/a	n/a
36	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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17047497	1.00[EUR][1000 genomes]
rs17279698	1.00[EUR][1000 genomes]
rs55740062	1.00[EUR][1000 genomes]
rs58729644	1.00[EUR][1000 genomes]
rs62164526	0.83[AMR][1000 genomes]
rs62164527	0.83[AMR][1000 genomes]
rs62164552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62167269	1.00[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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