Variant report

Variant	rs34875932
Chromosome Location	chr2:127066430-127066431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr2:127065289-127066657	K562	blood:	n/a	n/a
2	POLR2A	chr2:127065552-127066547	K562	blood:	n/a	n/a
3	IRF1	chr2:127065670-127067487	K562	blood:	n/a	n/a
4	MYC	chr2:127065612-127066526	K562	blood:	n/a	n/a
5	YY1	chr2:127066215-127066494	K562	blood:	n/a	n/a
6	POLR2A	chr2:127065643-127066507	K562	blood:	n/a	n/a
7	MYC	chr2:127065323-127066663	K562	blood:	n/a	n/a
8	CBX3	chr2:127065583-127066431	K562	blood:	n/a	n/a
9	TBP	chr2:127065616-127066597	K562	blood:	n/a	n/a
10	POLR2A	chr2:127065380-127066638	K562	blood:	n/a	n/a
11	NR2F2	chr2:127065531-127066451	K562	blood:	n/a	n/a
12	MAX	chr2:127065501-127066494	K562	blood:	n/a	n/a
13	TAF1	chr2:127065680-127066468	K562	blood:	n/a	n/a
14	E2F6	chr2:127066183-127066473	K562	blood:	n/a	n/a
15	MYC	chr2:127065442-127066613	K562	blood:	n/a	n/a
16	POLR2A	chr2:127065332-127066668	K562	blood:	n/a	n/a
17	IRF1	chr2:127065272-127066623	K562	blood:	n/a	n/a
18	JUN	chr2:127065772-127066587	K562	blood:	n/a	n/a
19	POLR2A	chr2:127065214-127066556	K562	blood:	n/a	n/a
20	PML	chr2:127065593-127066621	K562	blood:	n/a	n/a
21	TAF1	chr2:127066309-127066571	K562	blood:	n/a	n/a
22	MAX	chr2:127065258-127066560	K562	blood:	n/a	n/a
23	HEY1	chr2:127065628-127066534	K562	blood:	n/a	n/a
24	E2F6	chr2:127066306-127066538	K562	blood:	n/a	n/a
25	POLR2A	chr2:127065620-127066599	K562	blood:	n/a	n/a
26	POLR2A	chr2:127065376-127066609	K562	blood:	n/a	n/a
27	E2F6	chr2:127065607-127066500	K562	blood:	n/a	n/a
28	POLR2A	chr2:127065474-127066707	K562	blood:	n/a	n/a
29	YY1	chr2:127065702-127066526	K562	blood:	n/a	n/a
30	MYC	chr2:127065401-127066621	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000235774	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11674115	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11674405	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11675808	0.84[AMR][1000 genomes]
rs11682924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11684235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11687739	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11688466	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11688974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11690602	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11691311	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11691316	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11693558	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11694971	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11695746	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12990559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12996594	1.00[AFR][1000 genomes]
rs12999041	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12999792	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13001087	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13001322	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13008004	1.00[AFR][1000 genomes]
rs13008414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13010045	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13020607	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13020846	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13027486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13034164	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13034200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13034238	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17281203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs243417	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34062495	0.84[AMR][1000 genomes]
rs34087027	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34228135	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34731630	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34737330	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34939949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34961369	0.86[AMR][1000 genomes]
rs34971908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35338260	1.00[AFR][1000 genomes]
rs35432246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35486466	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35506144	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35876832	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs359688	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs359703	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs359704	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs359705	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs359706	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs359708	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs360290	0.86[EUR][1000 genomes]
rs360291	0.86[EUR][1000 genomes]
rs360292	0.86[EUR][1000 genomes]
rs360293	0.86[EUR][1000 genomes]
rs360295	0.86[EUR][1000 genomes]
rs360296	0.86[EUR][1000 genomes]
rs360297	0.86[EUR][1000 genomes]
rs360298	0.86[EUR][1000 genomes]
rs360299	0.86[EUR][1000 genomes]
rs360300	0.86[EUR][1000 genomes]
rs360301	0.86[EUR][1000 genomes]
rs360302	0.86[EUR][1000 genomes]
rs360303	0.86[EUR][1000 genomes]
rs360304	0.86[EUR][1000 genomes]
rs360305	0.86[EUR][1000 genomes]
rs360306	0.84[EUR][1000 genomes]
rs360307	0.86[EUR][1000 genomes]
rs360308	0.86[EUR][1000 genomes]
rs360309	0.86[EUR][1000 genomes]
rs360310	0.86[EUR][1000 genomes]
rs360312	0.86[EUR][1000 genomes]
rs360313	0.86[EUR][1000 genomes]
rs360316	0.85[EUR][1000 genomes]
rs360317	0.85[EUR][1000 genomes]
rs360318	0.85[EUR][1000 genomes]
rs360319	0.84[EUR][1000 genomes]
rs36061035	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66530889	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66701958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66815786	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66993274	1.00[AFR][1000 genomes]
rs67155347	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67271291	0.83[AFR][1000 genomes]
rs71413444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72831489	1.00[AFR][1000 genomes]
rs72841597	1.00[AFR][1000 genomes];1.00[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	nsv1013181	chr2:126451639-127246965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv997962	chr2:126464195-127234384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv534297	chr2:126506966-127245682	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1013215	chr2:126857279-127127152	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv535918	chr2:126857279-127127152	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv874998	chr2:126917647-127175585	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv583010	chr2:126962441-127079722	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv2757831	chr2:127033017-127161094	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2759089	chr2:127033017-127161094	Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127064400-127069800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:127064600-127069600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:127064600-127070400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:127064800-127067400	Active TSS	K562	blood
5	chr2:127064800-127069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:127066000-127069600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:127066000-127069800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:127066200-127069600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:127066200-127070600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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