Variant report

Variant	rs221986
Chromosome Location	chr7:65570310-65570311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:65569097..65570698-chr7:65571096..65573038,2	MCF-7	breast:
2	chr7:65568916..65570554-chr7:65582641..65585238,2	K562	blood:
3	chr7:65563372..65566895-chr7:65568965..65573405,4	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10950024	0.89[ASN][1000 genomes]
rs10950025	0.89[ASN][1000 genomes]
rs10950027	0.85[ASN][1000 genomes]
rs10950029	0.87[ASN][1000 genomes]
rs11760805	0.90[ASN][1000 genomes]
rs11767833	0.81[ASN][1000 genomes]
rs12666485	0.90[ASN][1000 genomes]
rs12671834	0.87[ASN][1000 genomes]
rs12673308	0.88[ASN][1000 genomes]
rs160641	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17138089	0.84[ASN][1000 genomes]
rs2451953	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2460427	0.89[ASN][1000 genomes]
rs2465121	0.90[ASN][1000 genomes]
rs28815324	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs313817	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs313818	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs313823	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316305	0.89[ASN][1000 genomes]
rs316306	0.89[ASN][1000 genomes]
rs316316	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316320	0.89[ASN][1000 genomes]
rs316323	0.87[ASN][1000 genomes]
rs316324	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316328	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs400767	0.82[ASN][1000 genomes]
rs4441996	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460276	0.87[ASN][1000 genomes]
rs6460281	0.81[ASN][1000 genomes]
rs67302640	0.88[ASN][1000 genomes]
rs67397473	0.88[ASN][1000 genomes]
rs67688847	0.90[ASN][1000 genomes]
rs6960870	0.90[ASN][1000 genomes]
rs73136346	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73376394	0.87[ASN][1000 genomes]
rs73376401	0.87[ASN][1000 genomes]
rs7782212	0.83[ASN][1000 genomes]
rs7786728	0.81[ASN][1000 genomes]
rs7787063	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs221986	GTF2IRD1P1	cis	Thyroid	GTEx
rs221986	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs221986	GS1-124K5.11	cis	Thyroid	GTEx
rs221986	GS1-124K5.4	cis	Artery Aorta	GTEx
rs221986	RNU6-96P	cis	Thyroid	GTEx
rs221986	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs221986	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65565200-65579800	Weak transcription	Spleen	Spleen
2	chr7:65565600-65570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:65565600-65571200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:65565600-65571200	Weak transcription	NHDF-Ad	bronchial
5	chr7:65565600-65571400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:65565600-65571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:65565600-65572400	Weak transcription	Lung	lung
8	chr7:65565600-65573400	Weak transcription	HepG2	liver
9	chr7:65565600-65575200	Weak transcription	Liver	Liver
10	chr7:65565600-65575800	Weak transcription	HMEC	breast
11	chr7:65565600-65575800	Weak transcription	NH-A	brain
12	chr7:65565600-65579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:65565800-65571200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:65565800-65572200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:65565800-65579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:65565800-65579000	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:65565800-65579000	Weak transcription	Fetal Stomach	stomach
18	chr7:65565800-65579400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:65566000-65579000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:65566200-65575800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:65566200-65579000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:65566200-65579000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:65566200-65579000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:65566200-65579200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:65568200-65573800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:65569200-65571200	Weak transcription	Osteobl	bone
27	chr7:65569200-65572400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:65569200-65575600	Weak transcription	NHEK	skin
29	chr7:65569400-65571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:65569400-65571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:65569400-65575800	Weak transcription	A549	lung
32	chr7:65569600-65570400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:65569800-65570400	Enhancers	K562	blood
34	chr7:65570200-65573800	Enhancers	Hela-S3	cervix

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