Variant report

Variant	rs221794
Chromosome Location	chr7:100281768-100281769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100208147..100211505-chr7:100280175..100284290,3	MCF-7	breast:
2	chr7:100199993..100202846-chr7:100280040..100283455,4	MCF-7	breast:
3	chr7:100026476..100029538-chr7:100281569..100284775,3	K562	blood:
4	chr7:100223129..100225922-chr7:100280230..100283135,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10247962	0.80[CEU][hapmap]
rs12673102	0.80[CEU][hapmap]
rs1734907	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221770	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs221774	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs221780	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221781	0.82[AFR][1000 genomes]
rs221783	0.96[ASN][1000 genomes]
rs221784	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221789	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221796	0.81[ASN][1000 genomes]
rs221797	0.96[ASN][1000 genomes]
rs221798	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs221800	0.96[ASN][1000 genomes]
rs221803	0.96[ASN][1000 genomes]
rs2432929	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4727457	0.86[CEU][hapmap]
rs4727462	0.90[ASN][1000 genomes]
rs4729600	0.86[CEU][hapmap]
rs492430	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs506597	0.96[ASN][1000 genomes]
rs534043	0.96[ASN][1000 genomes]
rs564449	0.90[ASN][1000 genomes]
rs7457868	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888794	chr7:100266081-100283261	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs221794	GIGYF1	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100274000-100283600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:100274000-100287000	Strong transcription	Lung	lung
3	chr7:100274200-100287600	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr7:100274200-100288800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100274200-100289200	Weak transcription	Fetal Kidney	kidney
6	chr7:100274200-100290400	Weak transcription	HSMMtube	muscle
7	chr7:100274400-100284000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:100274400-100284800	Strong transcription	Osteobl	bone
9	chr7:100274400-100285400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:100274400-100286000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:100274400-100286200	Strong transcription	Left Ventricle	heart
12	chr7:100274400-100286200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:100274400-100286400	Strong transcription	Thymus	Thymus
14	chr7:100274400-100287400	Strong transcription	Brain Cingulate Gyrus	brain
15	chr7:100274400-100287400	Strong transcription	Brain Substantia Nigra	brain
16	chr7:100274400-100287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:100274400-100287800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:100274400-100287800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:100274400-100287800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:100274400-100288000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:100274400-100288000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr7:100274400-100288600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:100274600-100286400	Strong transcription	Fetal Brain Female	brain
24	chr7:100274600-100286400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:100274600-100286600	Strong transcription	Rectal Smooth Muscle	rectum
26	chr7:100274600-100287000	Strong transcription	Fetal Lung	lung
27	chr7:100274600-100287200	Strong transcription	Dnd41	blood
28	chr7:100274600-100287600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:100274600-100287800	Weak transcription	Fetal Brain Male	brain
30	chr7:100274600-100288200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:100274800-100286600	Strong transcription	Fetal Thymus	thymus
32	chr7:100274800-100288600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:100275000-100286800	Strong transcription	Brain Hippocampus Middle	brain
34	chr7:100275400-100286400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:100275600-100287800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:100275800-100286400	Strong transcription	Brain Germinal Matrix	brain
37	chr7:100275800-100287000	Strong transcription	Liver	Liver
38	chr7:100276000-100287600	Strong transcription	Gastric	stomach
39	chr7:100276400-100285600	Strong transcription	Pancreas	Pancrea
40	chr7:100276400-100285600	Strong transcription	Right Ventricle	heart
41	chr7:100276400-100288800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:100276400-100290000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:100277400-100284000	Strong transcription	Small Intestine	intestine
44	chr7:100277400-100284800	Weak transcription	Fetal Heart	heart
45	chr7:100277400-100285600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:100277400-100287200	Strong transcription	Esophagus	oesophagus
47	chr7:100277400-100287600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:100277400-100288000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:100277600-100287200	Strong transcription	Placenta	Placenta
50	chr7:100277800-100283600	Strong transcription	Brain Angular Gyrus	brain

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