Variant report

Variant	rs34235414
Chromosome Location	chr6:49917861-49917862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr6:49917751-49918111	K562	blood:	n/a	n/a
2	UBTF	chr6:49917467-49918201	K562	blood:	n/a	n/a
3	ZNF384	chr6:49916800-49918531	K562	blood:	n/a	n/a
4	HEY1	chr6:49917773-49918118	K562	blood:	n/a	n/a
5	JUN	chr6:49917757-49918389	K562	blood:	n/a	n/a
6	POLR2A	chr6:49917581-49918144	K562	blood:	n/a	n/a
7	JUND	chr6:49917586-49918461	K562	blood:	n/a	n/a
8	YY1	chr6:49917760-49918075	K562	blood:	n/a	n/a
9	YY1	chr6:49917818-49918081	K562	blood:	n/a	n/a
10	UBTF	chr6:49917477-49918062	K562	blood:	n/a	n/a
11	CTCF	chr6:49917820-49917970	K562	blood:	n/a	n/a
12	TAF1	chr6:49917551-49918178	K562	blood:	n/a	n/a
13	ZMIZ1	chr6:49917838-49918324	K562	blood:	n/a	n/a
14	POLR2A	chr6:49917431-49918103	K562	blood:	n/a	n/a
15	PML	chr6:49917657-49918172	K562	blood:	n/a	n/a
16	MYC	chr6:49917575-49918254	K562	blood:	n/a	n/a
17	POLR2A	chr6:49917760-49918106	K562	blood:	n/a	n/a
18	TBP	chr6:49916833-49918259	K562	blood:	n/a	n/a
19	POLR2A	chr6:49917454-49918115	K562	blood:	n/a	n/a
20	POLR2A	chr6:49917771-49918201	K562	blood:	n/a	n/a
21	MAX	chr6:49917803-49918145	K562	blood:	n/a	n/a
22	HEY1	chr6:49917635-49918142	K562	blood:	n/a	n/a
23	IRF1	chr6:49917757-49918632	K562	blood:	n/a	n/a
24	NR2F2	chr6:49917583-49918159	K562	blood:	n/a	n/a
25	POLR2A	chr6:49917546-49918230	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	chr6:49917812..49920215-chr6:49938804..49940384,2	K562	blood:
2	chr6:49495608..49498128-chr6:49917488..49919733,2	K562	blood:

No data

Variant related genes	Relation type
DEFB133	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12197158	0.85[ASN][1000 genomes]
rs12200124	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12203532	0.85[ASN][1000 genomes]
rs1337820	0.91[ASN][1000 genomes]
rs1337821	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1337822	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1415732	0.90[ASN][1000 genomes]
rs1535933	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1538193	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953699	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1970303	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2039692	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2147409	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147410	0.90[ASN][1000 genomes]
rs2181910	0.88[ASN][1000 genomes]
rs3900863	0.90[ASN][1000 genomes]
rs4236101	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711937	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711938	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715151	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4715152	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4715153	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4715164	0.91[ASN][1000 genomes]
rs4715165	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458719	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6927196	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7743942	0.85[ASN][1000 genomes]
rs7747376	0.85[ASN][1000 genomes]
rs7754156	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7766636	0.91[ASN][1000 genomes]
rs7776086	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776352	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9349509	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357636	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9357638	0.89[ASN][1000 genomes]
rs9357639	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357641	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9367379	0.91[ASN][1000 genomes]
rs9367380	0.91[ASN][1000 genomes]
rs9369924	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9369926	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369928	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381833	0.91[ASN][1000 genomes]
rs9395543	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9395544	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9395547	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395548	0.81[AFR][1000 genomes];0.91[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	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv462944	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv603091	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr6:49916200-49918400	Active TSS	K562	blood
2	chr6:49917000-49918200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:49917600-49918000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:49917600-49918000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:49917600-49918000	Active TSS	Placenta	Placenta

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