Variant report

Variant	rs7455996
Chromosome Location	chr7:4872023-4872024
allele	C/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	FOXA1	chr7:4871750-4872104	T-47D	breast:	n/a	n/a
2	MAX	chr7:4871636-4872118	MCF-7	breast:	n/a	n/a
3	GATA3	chr7:4871478-4872036	MCF-7	breast:	n/a	n/a
4	GATA2	chr7:4871650-4872081	SH-SY5Y	brain:	n/a	n/a
5	HDAC2	chr7:4871498-4872151	MCF-7	breast:	n/a	chr7:4871616-4871630
6	HA-E2F1	chr7:4871450-4872069	MCF-7	breast:	n/a	n/a
7	FOXA1	chr7:4871321-4872121	T-47D	breast:	n/a	n/a
8	SIN3AK20	chr7:4871424-4872099	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr7:4871170-4872202	MCF-7	breast:	n/a	n/a
10	EP300	chr7:4871658-4872074	T-47D	breast:	n/a	n/a
11	ZNF217	chr7:4871449-4872086	MCF-7	breast:	n/a	n/a
12	GATA3	chr7:4871327-4872110	T-47D	breast:	n/a	n/a
13	ESR1	chr7:4871690-4872104	T-47D	breast:	n/a	n/a
14	ESR1	chr7:4871688-4872046	T-47D	breast:	n/a	n/a
15	GATA3	chr7:4871354-4872147	T-47D	breast:	n/a	n/a
16	CEBPB	chr7:4871345-4872023	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr7:4871549-4872146	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
RADIL	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1877523	0.81[ASN][1000 genomes]
rs2130280	0.80[ASN][1000 genomes]
rs2130281	0.81[ASN][1000 genomes]
rs3763381	0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs3763382	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:4846800-4876600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:4849200-4875800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:4850800-4873800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:4855000-4872600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:4855000-4872800	Weak transcription	Fetal Brain Female	brain
8	chr7:4858200-4873400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:4859200-4879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:4861000-4876000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:4861000-4876800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:4861000-4877600	Weak transcription	Right Atrium	heart
13	chr7:4865000-4877800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:4865000-4882000	Weak transcription	Ovary	ovary
15	chr7:4865000-4885200	Weak transcription	Brain Anterior Caudate	brain
16	chr7:4865400-4874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:4869200-4874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:4869400-4874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:4869800-4872400	Weak transcription	Fetal Lung	lung
20	chr7:4869800-4876600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:4869800-4877000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:4870000-4873800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:4870200-4872600	Weak transcription	Fetal Stomach	stomach
24	chr7:4870200-4873200	Weak transcription	Lung	lung
25	chr7:4870200-4873600	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:4870200-4873800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:4870200-4874000	Weak transcription	Right Ventricle	heart
28	chr7:4870200-4874200	Weak transcription	Gastric	stomach
29	chr7:4870200-4876800	Weak transcription	Adipose Nuclei	Adipose
30	chr7:4870200-4877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:4870200-4881200	Weak transcription	Spleen	Spleen
32	chr7:4871400-4876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:4871600-4876200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:4872000-4874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:4872000-4874600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:4872000-4877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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