Variant report

Variant	rs1553961
Chromosome Location	chr7:4843848-4843849
allele	A/G
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	SIN3A	chr7:4843815-4843996	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr7:4843741-4843992	HEK293-T-REx	kidney:	n/a	chr7:4843752-4843761
3	POLR2A	chr7:4843695-4843883	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:4843713-4843848	K562	blood:	n/a	n/a
5	GABPA	chr7:4843567-4843897	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr7:4843712-4843900	HepG2	liver:	n/a	n/a
7	USF1	chr7:4843668-4843872	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RADIL	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1002991	0.81[ASN][1000 genomes]
rs10215582	0.90[ASN][1000 genomes]
rs10232558	0.85[ASN][1000 genomes]
rs10258743	0.85[ASN][1000 genomes]
rs10270796	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1124130	0.85[AFR][1000 genomes]
rs11764110	0.81[ASN][1000 genomes]
rs11769768	0.90[ASN][1000 genomes]
rs11970860	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11974854	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17829969	0.86[ASN][1000 genomes]
rs2011679	0.81[ASN][1000 genomes]
rs2101517	0.90[ASN][1000 genomes]
rs2306919	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2344724	0.85[ASN][1000 genomes]
rs2344725	0.85[ASN][1000 genomes]
rs28681436	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2880933	0.89[ASN][1000 genomes]
rs3750012	0.80[ASN][1000 genomes]
rs3750013	0.86[ASN][1000 genomes]
rs3816851	0.86[ASN][1000 genomes]
rs3816852	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3816853	0.89[ASN][1000 genomes]
rs3816854	0.90[ASN][1000 genomes]
rs3816855	0.81[ASN][1000 genomes]
rs55728141	0.85[ASN][1000 genomes]
rs57468476	0.82[ASN][1000 genomes]
rs57839509	0.85[ASN][1000 genomes]
rs58207166	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59310540	0.82[ASN][1000 genomes]
rs59374668	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59386173	0.96[ASN][1000 genomes]
rs59441267	0.86[ASN][1000 genomes]
rs6963791	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966329	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6977412	0.81[ASN][1000 genomes]
rs73312621	0.85[ASN][1000 genomes]
rs749404	0.86[ASN][1000 genomes]
rs7788883	0.81[ASN][1000 genomes]
rs7803727	0.86[ASN][1000 genomes]
rs879217	0.81[ASN][1000 genomes]
rs882739	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv887383	chr7:4817460-4845701	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
16	esv1846003	chr7:4817952-4845248	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887384	chr7:4820581-4851897	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
18	nsv887385	chr7:4820581-4860835	Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
21	esv1836977	chr7:4823971-4845701	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
22	nsv887386	chr7:4823971-4852682	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
23	nsv887387	chr7:4823971-4860835	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
24	nsv887388	chr7:4823971-4880954	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
25	nsv605978	chr7:4828077-4854592	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
26	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
27	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4832200-4847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:4832400-4857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
4	chr7:4832800-4847400	Weak transcription	Fetal Brain Male	brain
5	chr7:4832800-4852600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:4833000-4844800	Weak transcription	Lung	lung
7	chr7:4834800-4849400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:4837400-4850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:4838200-4854200	Weak transcription	Right Ventricle	heart
12	chr7:4838400-4846800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:4838400-4859800	Weak transcription	Left Ventricle	heart
14	chr7:4838800-4849400	Weak transcription	Fetal Lung	lung
15	chr7:4839800-4847600	Weak transcription	Fetal Heart	heart
16	chr7:4840400-4845000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:4840600-4845400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:4841000-4852400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:4841200-4852400	Weak transcription	Fetal Brain Female	brain
20	chr7:4842000-4844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:4843200-4844000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:4843200-4844000	ZNF genes & repeats	Fetal Stomach	stomach
23	chr7:4843200-4845800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:4843400-4844000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:4843400-4844000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:4843400-4844000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:4843400-4844000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:4843600-4844000	Active TSS	HepG2	liver
29	chr7:4843600-4845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:4843800-4844000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:4843800-4844000	Bivalent Enhancer	Placenta	Placenta
32	chr7:4843800-4845200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:4843800-4845600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:4843800-4846000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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