Variant report

Variant	rs7805571
Chromosome Location	chr7:5440530-5440531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5435723..5440617-chr7:5455325..5461617,9	MCF-7	breast:
2	chr7:5437040..5441655-chr7:5451029..5454585,4	MCF-7	breast:
3	chr7:5439066..5440832-chr7:5447248..5448910,2	K562	blood:
4	chr7:5440023..5443098-chr7:5443206..5447942,6	K562	blood:

Variant related genes	Relation type
ENSG00000182095	Chromatin interaction
ENSG00000188365	Chromatin interaction
ENSG00000241269	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10236222	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12533163	0.82[ASN][1000 genomes]
rs12667469	0.80[ASN][1000 genomes]
rs55964767	0.81[ASN][1000 genomes]
rs56333430	0.81[ASN][1000 genomes]
rs7786218	0.84[ASN][1000 genomes]
rs7786238	0.84[ASN][1000 genomes]
rs7786245	0.84[ASN][1000 genomes]
rs7789324	0.83[ASN][1000 genomes]
rs7804677	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808896	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	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
8	nsv887397	chr7:5315557-5450031	Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv887400	chr7:5393243-5441337	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv887403	chr7:5399044-5450031	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5423600-5443600	Weak transcription	Fetal Brain Male	brain
2	chr7:5424800-5447000	Weak transcription	Fetal Heart	heart
3	chr7:5425800-5447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:5426000-5444200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:5427000-5446800	Weak transcription	NH-A	brain
6	chr7:5427400-5445600	Weak transcription	Fetal Kidney	kidney
7	chr7:5427600-5442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:5429200-5444400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:5433200-5445200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:5434000-5446600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:5434000-5448400	Weak transcription	HUVEC	blood vessel
12	chr7:5434200-5440800	Weak transcription	Aorta	Aorta
13	chr7:5434200-5451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:5435400-5443400	Weak transcription	Ovary	ovary
15	chr7:5436600-5444000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:5436800-5441000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:5436800-5443600	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:5436800-5443800	Weak transcription	Brain Anterior Caudate	brain
19	chr7:5436800-5445600	Weak transcription	Gastric	stomach
20	chr7:5436800-5446600	Strong transcription	Fetal Stomach	stomach
21	chr7:5436800-5447000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:5436800-5448200	Weak transcription	NHDF-Ad	bronchial
23	chr7:5437200-5441000	Weak transcription	Left Ventricle	heart
24	chr7:5437200-5447400	Weak transcription	Thymus	Thymus
25	chr7:5437200-5448400	Weak transcription	HSMM	muscle
26	chr7:5437200-5454400	Weak transcription	HSMMtube	muscle
27	chr7:5437400-5443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:5437400-5444200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:5437400-5445400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:5437400-5446600	Weak transcription	Right Ventricle	heart
31	chr7:5437400-5446800	Weak transcription	Brain Angular Gyrus	brain
32	chr7:5437400-5446800	Weak transcription	Pancreas	Pancrea
33	chr7:5437400-5448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:5437400-5451000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:5437600-5440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:5437600-5440800	Weak transcription	Lung	lung
37	chr7:5437600-5441000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:5437600-5441000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:5437600-5441000	Weak transcription	Fetal Lung	lung
40	chr7:5437600-5441000	Weak transcription	A549	lung
41	chr7:5437600-5441000	Weak transcription	HMEC	breast
42	chr7:5437600-5441200	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:5437600-5442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:5437600-5442400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:5437600-5442400	Weak transcription	Spleen	Spleen
46	chr7:5437600-5443200	Weak transcription	Osteobl	bone
47	chr7:5437600-5443400	Weak transcription	HepG2	liver
48	chr7:5437600-5443600	Weak transcription	Fetal Brain Female	brain
49	chr7:5437600-5443600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:5437600-5445600	Weak transcription	Adipose Nuclei	Adipose

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