Variant report

Variant	rs2176228
Chromosome Location	chr2:183977540-183977541
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	TAL1	chr2:183977339-183977766	K562	blood:	n/a	n/a
2	CEBPD	chr2:183977347-183977773	K562	blood:	n/a	n/a
3	RCOR1	chr2:183977403-183977671	K562	blood:	n/a	n/a
4	SPI1	chr2:183977390-183977646	K562	blood:	n/a	n/a
5	ATF1	chr2:183977365-183977711	K562	blood:	n/a	n/a
6	GATA1	chr2:183977180-183978022	PBDE	blood:	n/a	n/a
7	TEAD4	chr2:183977285-183977803	K562	blood:	n/a	n/a
8	MAFF	chr2:183977371-183977673	K562	blood:	n/a	n/a
9	SPI1	chr2:183977377-183977634	K562	blood:	n/a	n/a
10	JUND	chr2:183977400-183977741	K562	blood:	n/a	n/a
11	CUX1	chr2:183977404-183977889	K562	blood:	n/a	n/a
12	MAFK	chr2:183977436-183977663	K562	blood:	n/a	n/a
13	CCNT2	chr2:183977433-183977679	K562	blood:	n/a	n/a
14	ARID3A	chr2:183977385-183977757	K562	blood:	n/a	n/a
15	STAT5A	chr2:183977379-183977659	K562	blood:	n/a	n/a
16	JUN	chr2:183977282-183977802	K562	blood:	n/a	n/a
17	CBX3	chr2:183977286-183977770	K562	blood:	n/a	n/a
18	ZMIZ1	chr2:183977389-183977652	K562	blood:	n/a	n/a
19	EP300	chr2:183977379-183978770	K562	blood:	n/a	chr2:183978740-183978754
20	IRF1	chr2:183977286-183977719	K562	blood:	n/a	n/a
21	KAP1	chr2:183977385-183977956	K562	blood:	n/a	n/a
22	TEAD4	chr2:183977301-183977766	K562	blood:	n/a	n/a
23	TBL1XR1	chr2:183977416-183977653	K562	blood:	n/a	n/a
24	GATA2	chr2:183977320-183977716	K562	blood:	n/a	n/a
25	ZNF384	chr2:183977168-183977593	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	chr2:183967945..183970518-chr2:183975860..183978004,2	K562	blood:
2	chr2:183976023..183978343-chr2:183982634..183984997,2	K562	blood:

No data

Variant related genes	Relation type
NUP35	TF binding region
ENSG00000224643	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10165922	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10170163	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10174477	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10183561	0.89[ASN][1000 genomes]
rs10200193	0.93[ASN][1000 genomes]
rs10201194	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10460315	0.96[ASN][1000 genomes]
rs10931061	0.81[AFR][1000 genomes]
rs11692613	0.94[ASN][1000 genomes]
rs12463411	0.96[ASN][1000 genomes]
rs12693331	0.89[ASN][1000 genomes]
rs13399265	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13419900	0.91[ASN][1000 genomes]
rs16823717	0.82[ASN][1000 genomes]
rs16823721	0.84[ASN][1000 genomes]
rs16823970	0.82[ASN][1000 genomes]
rs16823971	0.82[ASN][1000 genomes]
rs16823974	0.82[ASN][1000 genomes]
rs16823976	0.84[ASN][1000 genomes]
rs16824001	0.82[ASN][1000 genomes]
rs1882440	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2138482	0.96[ASN][1000 genomes]
rs2138484	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2138485	0.91[ASN][1000 genomes]
rs2247840	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2368335	0.96[ASN][1000 genomes]
rs2368354	0.93[ASN][1000 genomes]
rs2705714	0.91[ASN][1000 genomes]
rs2944346	0.89[ASN][1000 genomes]
rs3748879	0.84[ASN][1000 genomes]
rs4597478	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4666885	0.93[ASN][1000 genomes]
rs4666887	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55942934	0.84[ASN][1000 genomes]
rs56271556	0.84[ASN][1000 genomes]
rs59041013	0.84[ASN][1000 genomes]
rs61283216	0.84[ASN][1000 genomes]
rs61526412	0.84[ASN][1000 genomes]
rs6742203	0.89[ASN][1000 genomes]
rs73035651	0.82[ASN][1000 genomes]
rs73036601	0.84[ASN][1000 genomes]
rs7601585	0.88[AFR][1000 genomes]
rs867340	0.87[ASN][1000 genomes]
rs925805	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
2	chr2:183977200-183978200	Flanking Active TSS	K562	blood

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