Variant report

Variant	rs73294850
Chromosome Location	chr7:16304832-16304833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr7:16304676-16305206	K562	blood:	n/a	n/a
2	POLR2A	chr7:16303542-16306140	K562	blood:	n/a	n/a
3	ZNF384	chr7:16304793-16305069	K562	blood:	n/a	n/a
4	TEAD4	chr7:16304685-16305986	K562	blood:	n/a	n/a
5	ATF1	chr7:16304760-16305221	K562	blood:	n/a	n/a
6	POLR2A	chr7:16304639-16305971	K562	blood:	n/a	n/a
7	ZMIZ1	chr7:16304763-16305579	K562	blood:	n/a	n/a
8	POLR2A	chr7:16304239-16305933	K562	blood:	n/a	n/a
9	JUND	chr7:16304676-16305832	K562	blood:	n/a	n/a
10	UBTF	chr7:16304233-16305707	K562	blood:	n/a	n/a
11	BHLHE40	chr7:16304830-16305615	K562	blood:	n/a	n/a
12	TBP	chr7:16304683-16305788	K562	blood:	n/a	n/a
13	TBL1XR1	chr7:16304538-16304950	K562	blood:	n/a	n/a
14	POLR2A	chr7:16304667-16305263	K562	blood:	n/a	n/a
15	IRF1	chr7:16303496-16305947	K562	blood:	n/a	n/a
16	PML	chr7:16304698-16305885	K562	blood:	n/a	n/a
17	HCFC1	chr7:16304719-16305259	K562	blood:	n/a	n/a
18	EP300	chr7:16304741-16305919	K562	blood:	n/a	n/a
19	TBL1XR1	chr7:16304173-16305830	K562	blood:	n/a	n/a
20	POLR2A	chr7:16303735-16306526	K562	blood:	n/a	n/a
21	IRF1	chr7:16303775-16305608	K562	blood:	n/a	n/a
22	MAZ	chr7:16304804-16305195	K562	blood:	n/a	n/a
23	JUN	chr7:16303638-16310076	K562	blood:	n/a	chr7:16307130-16307142 chr7:16304208-16304216 chr7:16304204-16304215 chr7:16305975-16305987 chr7:16304206-16304218
24	CEBPB	chr7:16304794-16305678	K562	blood:	n/a	n/a
25	RCOR1	chr7:16304747-16305208	K562	blood:	n/a	n/a
26	ARID3A	chr7:16304739-16305925	K562	blood:	n/a	n/a
27	POLR2A	chr7:16303891-16306881	K562	blood:	n/a	n/a
28	HEY1	chr7:16304666-16305775	K562	blood:	n/a	n/a
29	POLR2A	chr7:16303647-16309801	K562	blood:	n/a	n/a
30	POLR2A	chr7:16304648-16305298	K562	blood:	n/a	n/a
31	POLR2A	chr7:16303867-16306095	K562	blood:	n/a	n/a
32	MAFK	chr7:16304795-16305926	K562	blood:	n/a	n/a
33	TEAD4	chr7:16304056-16306094	K562	blood:	n/a	n/a
34	TAF1	chr7:16304704-16305236	K562	blood:	n/a	n/a
35	CEBPD	chr7:16304751-16305266	K562	blood:	n/a	n/a
36	PML	chr7:16304120-16305856	K562	blood:	n/a	n/a
37	MAFF	chr7:16304539-16305285	K562	blood:	n/a	n/a
38	CREB1	chr7:16304800-16305850	K562	blood:	n/a	n/a
39	UBTF	chr7:16304769-16305245	K562	blood:	n/a	n/a
40	EP300	chr7:16304811-16305251	GM12878	blood:	n/a	n/a

No data

(count:4 , 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	chr7:16303209..16307181-chr7:16682528..16687363,4	K562	blood:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10273140	1.00[AMR][1000 genomes]
rs28452884	1.00[AMR][1000 genomes]
rs57733941	1.00[AMR][1000 genomes]
rs61640204	0.90[AFR][1000 genomes]
rs6946244	1.00[AMR][1000 genomes]
rs6964341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6975254	0.90[AFR][1000 genomes]
rs73291434	0.80[AFR][1000 genomes]
rs73291448	1.00[AMR][1000 genomes]
rs73291488	1.00[AMR][1000 genomes]
rs73291493	1.00[AMR][1000 genomes]
rs73291497	1.00[AMR][1000 genomes]
rs73293112	1.00[AMR][1000 genomes]
rs73294843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294845	1.00[AMR][1000 genomes]
rs73294861	0.90[AFR][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16300200-16308400	Weak transcription	Fetal Heart	heart
2	chr7:16303600-16305200	Enhancers	Liver	Liver
3	chr7:16304200-16307200	Transcr. at gene 5' and 3'	K562	blood
4	chr7:16304400-16305200	Enhancers	Fetal Lung	lung

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