Variant report

Variant	rs1295137
Chromosome Location	chr7:16308088-16308089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:16307420-16309654	K562	blood:	n/a	n/a
2	IRF1	chr7:16307406-16309509	K562	blood:	n/a	n/a
3	TEAD4	chr7:16308032-16309305	K562	blood:	n/a	n/a
4	POLR2A	chr7:16307998-16308130	K562	blood:	n/a	n/a
5	TBL1XR1	chr7:16307592-16309792	K562	blood:	n/a	n/a
6	GATA1	chr7:16307357-16310002	K562	blood:	n/a	chr7:16307797-16307813 chr7:16307832-16307839 chr7:16307802-16307809 chr7:16307802-16307809 chr7:16307802-16307809 chr7:16307832-16307839 chr7:16307832-16307842 chr7:16307795-16307816 chr7:16307827-16307843 chr7:16307832-16307839 chr7:16307802-16307812 chr7:16307825-16307846
7	CCNT2	chr7:16308074-16309185	K562	blood:	n/a	n/a
8	JUN	chr7:16307920-16309139	K562	blood:	n/a	n/a
9	POLR2A	chr7:16307650-16309090	K562	blood:	n/a	n/a
10	POLR2A	chr7:16307875-16309152	K562	blood:	n/a	n/a
11	JUN	chr7:16303638-16310076	K562	blood:	n/a	chr7:16307130-16307142 chr7:16304208-16304216 chr7:16304204-16304215 chr7:16305975-16305987 chr7:16304206-16304218
12	POLR2A	chr7:16307576-16309595	K562	blood:	n/a	n/a
13	SMARCA4	chr7:16307978-16309398	K562	blood:	n/a	n/a
14	POLR2A	chr7:16303647-16309801	K562	blood:	n/a	n/a
15	EP300	chr7:16307464-16309389	K562	blood:	n/a	n/a
16	JUND	chr7:16308018-16309163	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:16307891..16309646-chr7:16460887..16462647,2	K562	blood:
2	chr7:16307737..16311020-chr7:16684818..16687152,3	K562	blood:
3	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
4	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:
5	chr7:16221967..16224628-chr7:16306153..16308389,2	K562	blood:
6	chr7:16307417..16309237-chr7:16685352..16687215,2	K562	blood:

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

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10267017	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10275907	0.81[CEU][hapmap]
rs10950605	0.82[EUR][1000 genomes]
rs1113569	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11773633	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12216621	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12667765	1.00[YRI][hapmap]
rs12699773	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1295140	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1295141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1295144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295146	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295151	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295153	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295154	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295159	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295166	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1295169	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1295172	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1295174	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1589987	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1918265	0.82[EUR][1000 genomes]
rs2389594	0.87[JPT][hapmap]
rs34049441	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34915294	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4719461	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4721488	1.00[YRI][hapmap]
rs6947755	0.80[ASN][1000 genomes]
rs6956587	0.81[ASN][1000 genomes]
rs71540743	0.84[AMR][1000 genomes]
rs7782000	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7789736	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7790551	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794107	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7807183	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16300200-16308400	Weak transcription	Fetal Heart	heart
2	chr7:16305200-16313200	Weak transcription	Fetal Lung	lung
3	chr7:16305600-16312800	Weak transcription	Gastric	stomach
4	chr7:16307000-16311600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:16307200-16309000	Active TSS	K562	blood
6	chr7:16307200-16311400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:16307200-16312800	Weak transcription	Ovary	ovary

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