Variant report

Variant	rs2074632
Chromosome Location	chr7:16305388-16305389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:16303542-16306140	K562	blood:	n/a	n/a
2	TEAD4	chr7:16304685-16305986	K562	blood:	n/a	n/a
3	POLR2A	chr7:16304639-16305971	K562	blood:	n/a	n/a
4	ZMIZ1	chr7:16304763-16305579	K562	blood:	n/a	n/a
5	POLR2A	chr7:16304239-16305933	K562	blood:	n/a	n/a
6	JUND	chr7:16304676-16305832	K562	blood:	n/a	n/a
7	UBTF	chr7:16304233-16305707	K562	blood:	n/a	n/a
8	BHLHE40	chr7:16304830-16305615	K562	blood:	n/a	n/a
9	TBP	chr7:16304683-16305788	K562	blood:	n/a	n/a
10	CEBPB	chr7:16304910-16305502	K562	blood:	n/a	n/a
11	IRF1	chr7:16303496-16305947	K562	blood:	n/a	n/a
12	PML	chr7:16304698-16305885	K562	blood:	n/a	n/a
13	TAL1	chr7:16305382-16305613	K562	blood:	n/a	n/a
14	EP300	chr7:16304741-16305919	K562	blood:	n/a	n/a
15	TBL1XR1	chr7:16304173-16305830	K562	blood:	n/a	n/a
16	POLR2A	chr7:16303735-16306526	K562	blood:	n/a	n/a
17	IRF1	chr7:16303775-16305608	K562	blood:	n/a	n/a
18	JUN	chr7:16303638-16310076	K562	blood:	n/a	chr7:16307130-16307142 chr7:16304208-16304216 chr7:16304204-16304215 chr7:16305975-16305987 chr7:16304206-16304218
19	MYC	chr7:16304901-16306056	K562	blood:	n/a	n/a
20	CUX1	chr7:16304893-16305672	K562	blood:	n/a	n/a
21	BCLAF1	chr7:16305341-16306186	K562	blood:	n/a	n/a
22	CEBPB	chr7:16304794-16305678	K562	blood:	n/a	n/a
23	ARID3A	chr7:16304739-16305925	K562	blood:	n/a	n/a
24	POLR2A	chr7:16303891-16306881	K562	blood:	n/a	n/a
25	POLR2A	chr7:16305276-16306050	K562	blood:	n/a	n/a
26	HEY1	chr7:16304666-16305775	K562	blood:	n/a	n/a
27	POLR2A	chr7:16303647-16309801	K562	blood:	n/a	n/a
28	POLR2A	chr7:16303867-16306095	K562	blood:	n/a	n/a
29	MAFK	chr7:16304795-16305926	K562	blood:	n/a	n/a
30	TEAD4	chr7:16304056-16306094	K562	blood:	n/a	n/a
31	POLR2A	chr7:16305347-16305809	K562	blood:	n/a	n/a
32	PML	chr7:16304120-16305856	K562	blood:	n/a	n/a
33	CREB1	chr7:16304800-16305850	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16302626..16306339-chr7:16456665..16460333,5	K562	blood:
2	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
3	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
4	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:
5	chr7:16303209..16307181-chr7:16682528..16687363,4	K562	blood:
6	chr7:16304973..16307091-chr7:16435445..16437043,2	K562	blood:
7	chr7:16272248..16274869-chr7:16305157..16307096,2	K562	blood:

No data

Variant related genes	Relation type
ISPD-AS1	TF binding region
ENSG00000106524	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10226581	0.80[EUR][1000 genomes]
rs10240830	0.87[EUR][1000 genomes]
rs10247201	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10269890	0.84[EUR][1000 genomes]
rs10280613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1358280	0.87[EUR][1000 genomes]
rs1527222	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17169279	0.87[EUR][1000 genomes]
rs17169285	0.82[EUR][1000 genomes]
rs17169301	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17169331	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17169363	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17169374	0.84[ASN][1000 genomes]
rs17169381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2240856	0.87[EUR][1000 genomes]
rs28386896	0.84[EUR][1000 genomes]
rs28695581	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57179130	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59789077	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73291455	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73291465	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73291495	0.92[EUR][1000 genomes]
rs73293103	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73294876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7802994	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1017498	chr7:16262300-16313476	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv470133	chr7:16269632-16312056	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv869966	chr7:16279782-16307959	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16300200-16308400	Weak transcription	Fetal Heart	heart
2	chr7:16304200-16307200	Transcr. at gene 5' and 3'	K562	blood
3	chr7:16305200-16313200	Weak transcription	Fetal Lung	lung

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