Variant report

Variant	rs4577859
Chromosome Location	chr7:5490606-5490607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5405670..5407780-chr7:5489083..5491662,3	MCF-7	breast:
2	chr7:5489179..5492667-chr7:5495464..5498343,3	K562	blood:
3	chr7:5490277..5492344-chr7:5497263..5499654,2	MCF-7	breast:
4	chr7:5489264..5491081-chr7:5494602..5496452,2	MCF-7	breast:
5	chr7:5279507..5280369-chr7:5490006..5490934,6	MCF-7	breast:
6	chr7:5405773..5406438-chr7:5490018..5490981,3	K562	blood:
7	chr7:5458158..5461530-chr7:5488359..5490865,4	MCF-7	breast:
8	chr7:5478114..5479988-chr7:5490489..5492165,2	K562	blood:
9	chr7:5486211..5489791-chr7:5490283..5493222,3	K562	blood:
10	chr7:5279882..5280566-chr7:5490006..5490720,2	MCF-7	breast:
11	chr7:5463867..5474306-chr7:5490437..5498690,27	K562	blood:
12	chr7:5483353..5485157-chr7:5489176..5491820,2	K562	blood:
13	chr7:5405369..5406197-chr7:5490182..5490763,2	MCF-7	breast:
14	chr7:5460548..5470879-chr7:5485628..5502297,36	K562	blood:
15	chr7:5451316..5453787-chr7:5489844..5491700,2	MCF-7	breast:
16	chr7:5480168..5484767-chr7:5488147..5491979,5	MCF-7	breast:
17	chr7:5279681..5280414-chr7:5490360..5490874,2	K562	blood:
18	chr7:5463779..5472786-chr7:5487740..5494468,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273084	Chromatin interaction
ENSG00000241269	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000188365	Chromatin interaction
ENSG00000234432	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13223393	0.91[JPT][hapmap]
rs4724679	0.91[CHB][hapmap];0.80[CHD][hapmap]
rs4724687	0.90[CHB][hapmap]
rs57121758	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	333 gene(s)	inside rSNPs	diseases
6	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
8	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
9	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
10	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
12	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
13	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
15	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
16	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
17	nsv508443	chr7:5447283-5501122	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
19	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
20	nsv984498	chr7:5469767-5506036	Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv887409	chr7:5477922-5539958	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
22	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5470200-5491800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:5470400-5497600	Weak transcription	Right Atrium	heart
3	chr7:5473200-5491200	Weak transcription	Hela-S3	cervix
4	chr7:5473200-5497200	Weak transcription	Right Ventricle	heart
5	chr7:5483800-5490800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:5484000-5491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:5486600-5491200	Weak transcription	Spleen	Spleen
8	chr7:5486600-5497200	Weak transcription	Lung	lung
9	chr7:5487800-5495200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:5488200-5492800	Enhancers	Fetal Thymus	thymus
11	chr7:5488400-5492600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:5488400-5492600	Weak transcription	NH-A	brain
13	chr7:5488600-5492400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:5488600-5492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:5488800-5491800	Weak transcription	HMEC	breast
16	chr7:5488800-5492200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:5488800-5492800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:5488800-5497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:5490000-5490800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:5490000-5491200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:5490000-5491200	Enhancers	Fetal Brain Female	brain
22	chr7:5490000-5491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:5490000-5491600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:5490000-5493200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:5490000-5493600	Enhancers	Primary hematopoietic stem cells	blood
26	chr7:5490200-5490800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:5490200-5490800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:5490200-5490800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:5490200-5490800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:5490200-5490800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:5490200-5490800	Enhancers	Colon Smooth Muscle	Colon
32	chr7:5490200-5490800	Enhancers	Fetal Intestine Large	intestine
33	chr7:5490200-5490800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:5490200-5491000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:5490200-5491000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:5490200-5491000	Enhancers	Brain Anterior Caudate	brain
37	chr7:5490200-5491000	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:5490200-5491000	Enhancers	Fetal Brain Male	brain
39	chr7:5490200-5491000	Enhancers	HepG2	liver
40	chr7:5490200-5491200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:5490200-5491200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:5490200-5491200	Enhancers	Brain Angular Gyrus	brain
43	chr7:5490200-5491200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr7:5490200-5491200	Enhancers	Fetal Intestine Small	intestine
45	chr7:5490200-5491200	Enhancers	Fetal Lung	lung
46	chr7:5490200-5491400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr7:5490200-5491800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:5490200-5491800	Enhancers	Brain Hippocampus Middle	brain
49	chr7:5490200-5492000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr7:5490200-5492200	Enhancers	Stomach Smooth Muscle	stomach

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