Variant report

Variant	rs73052777
Chromosome Location	chr7:5610366-5610367
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5609119..5611676-chr7:5612260..5613810,2	MCF-7	breast:
2	chr7:5601903..5606389-chr7:5607716..5610535,5	MCF-7	breast:
3	chr7:5608955..5610946-chr7:5632329..5633950,2	MCF-7	breast:
4	chr7:5609187..5611309-chr7:5612537..5614699,4	MCF-7	breast:
5	chr7:5508232..5509825-chr7:5608732..5611658,2	MCF-7	breast:
6	chr7:5600360..5604967-chr7:5605162..5611387,11	MCF-7	breast:
7	chr7:5569738..5572618-chr7:5609274..5610826,2	MCF-7	breast:
8	chr7:5607571..5611303-chr7:5630699..5633841,5	MCF-7	breast:
9	chr7:5608590..5611609-chr7:5612430..5616441,5	K562	blood:
10	chr7:5608695..5611336-chr7:5618694..5620634,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228974	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000075624	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4724709	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73047193	0.88[EUR][1000 genomes]
rs73049003	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049007	0.93[EUR][1000 genomes]
rs73049011	0.95[EUR][1000 genomes]
rs73049012	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049016	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049019	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	esv13701	chr7:5607355-5611372	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5608600-5610600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:5608800-5610400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:5608800-5610400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:5608800-5610400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr7:5608800-5610400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:5608800-5610600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:5608800-5610600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:5608800-5610600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:5608800-5610600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:5608800-5610600	Flanking Active TSS	Dnd41	blood
11	chr7:5609000-5610400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:5609000-5610400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:5609000-5610400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:5609000-5610400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr7:5609000-5610400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:5609000-5610400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:5609000-5610400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:5609000-5610400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr7:5609000-5610400	Active TSS	Fetal Kidney	kidney
20	chr7:5609000-5610400	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr7:5609000-5610400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr7:5609000-5610600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:5609000-5610600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:5609000-5610600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:5609000-5610600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:5609000-5610600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:5609000-5610600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:5609200-5610400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:5609200-5610400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:5609200-5610400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:5609200-5610400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:5609200-5610400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:5609200-5610400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr7:5609200-5610400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr7:5609200-5610400	Active TSS	Aorta	Aorta
36	chr7:5609200-5610400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:5609200-5610400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:5609200-5610400	Active TSS	Ovary	ovary
39	chr7:5609200-5610400	Active TSS	Rectal Smooth Muscle	rectum
40	chr7:5609200-5610600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr7:5609200-5610600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:5609200-5610600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:5609200-5610600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:5609200-5610600	Active TSS	Brain Anterior Caudate	brain
45	chr7:5609200-5610600	Active TSS	Brain Germinal Matrix	brain
46	chr7:5609200-5610600	Active TSS	Fetal Brain Female	brain
47	chr7:5609200-5610600	Active TSS	A549	lung
48	chr7:5609400-5610400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr7:5609400-5610400	Flanking Active TSS	Placenta	Placenta
50	chr7:5609400-5610600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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