Variant report

Variant	rs61318457
Chromosome Location	chr7:100186111-100186112
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100186078-100186357	GM19239	blood:	n/a	n/a
2	RAD21	chr7:100186048-100186528	MCF-7	breast:	n/a	chr7:100186272-100186282
3	CTCF	chr7:100186107-100186372	HepG2	liver:	n/a	n/a
4	RAD21	chr7:100186074-100186451	GM12878	blood:	n/a	chr7:100186272-100186282
5	SMC3	chr7:100186111-100186392	K562	blood:	n/a	chr7:100186272-100186286
6	RAD21	chr7:100186111-100186428	Hela-S3	cervix:	n/a	chr7:100186272-100186282
7	CTCF	chr7:100186000-100186150	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr7:100186064-100186422	HepG2	liver:	n/a	chr7:100186272-100186282
9	RAD21	chr7:100186040-100186445	HepG2	liver:	n/a	chr7:100186272-100186282
10	CTCF	chr7:100186111-100186448	IMR90	lung:	n/a	n/a
11	CTCF	chr7:100185986-100186421	K562	blood:	n/a	n/a
12	CTCF	chr7:100186042-100186538	MCF-7	breast:	n/a	n/a
13	SMC3	chr7:100186099-100186428	HepG2	liver:	n/a	chr7:100186272-100186286
14	SMC3	chr7:100185564-100186637	SK-N-SH	brain:	n/a	chr7:100186272-100186286
15	CTCF	chr7:100186005-100186618	HCT-116	colon:	n/a	n/a
16	CTCF	chr7:100186074-100186464	GM12878	blood:	n/a	n/a
17	CTCF	chr7:100186099-100186366	GM19240	blood:	n/a	n/a
18	CTCF	chr7:100185980-100186130	K562	blood:	n/a	n/a
19	CTCF	chr7:100186090-100186395	K562	blood:	n/a	n/a
20	CTCF	chr7:100185769-100187245	SK-N-SH	brain:	n/a	n/a
21	NFYA	chr7:100185993-100186327	Hela-S3	cervix:	n/a	n/a
22	RAD21	chr7:100185859-100186688	SK-N-SH	brain:	n/a	chr7:100186272-100186282
23	RAD21	chr7:100185998-100186542	MCF-7	breast:	n/a	chr7:100186272-100186282
24	CTCF	chr7:100185906-100186670	A549	lung:	n/a	n/a
25	CTCF	chr7:100186111-100186386	K562	blood:	n/a	n/a
26	SMC3	chr7:100186102-100186422	Hela-S3	cervix:	n/a	chr7:100186272-100186286
27	CTCF	chr7:100185970-100186546	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:100186087-100186474	K562	blood:	n/a	n/a
29	RAD21	chr7:100186068-100186387	SK-N-SH_RA	brain:	n/a	chr7:100186272-100186282
30	RAD21	chr7:100185990-100186466	A549	lung:	n/a	chr7:100186272-100186282
31	RAD21	chr7:100186096-100186411	K562	blood:	n/a	chr7:100186272-100186282
32	RAD21	chr7:100186041-100186472	ECC-1	luminal epithelium:	n/a	chr7:100186272-100186282
33	CTCF	chr7:100186110-100186475	HepG2	liver:	n/a	n/a
34	RAD21	chr7:100186067-100186439	SK-N-SH_RA	brain:	n/a	chr7:100186272-100186282
35	CTCF	chr7:100186109-100186464	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100066612..100067515-chr7:100185868..100186777,2	K562	blood:
2	chr7:100185909..100188198-chr7:100270050..100272393,2	MCF-7	breast:
3	chr7:100180934..100186212-chr7:100208003..100211666,10	K562	blood:
4	chr7:100181058..100187386-chr7:100198846..100203499,12	K562	blood:
5	chr7:100024516..100026521-chr7:100183469..100186366,2	MCF-7	breast:
6	chr7:100178369..100186125-chr7:100269651..100278553,26	MCF-7	breast:
7	chr7:100024456..100030636-chr7:100180698..100187996,13	K562	blood:
8	chr7:100182229..100186397-chr7:100301308..100304608,4	MCF-7	breast:
9	chr7:100024988..100028445-chr7:100180808..100186978,10	K562	blood:
10	chr7:100157089..100158066-chr7:100186075..100186627,2	K562	blood:
11	chr7:100160979..100161751-chr7:100185900..100186799,2	MCF-7	breast:
12	chr7:100134485..100137368-chr7:100183364..100186308,2	K562	blood:
13	chr7:100161196..100162190-chr7:100185772..100186944,9	MCF-7	breast:

Variant related genes	Relation type
FBXO24	TF binding region
LRCH4	TF binding region
ENSG00000172336	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000224729	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11972116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978096	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978967	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216707	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34440977	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307653	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58509206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668677	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743967	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61309832	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67147615	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67535650	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970240	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154884	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154887	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154891	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154894	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154895	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154897	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154902	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156207	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156208	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156210	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156211	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711133	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711136	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799695	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer 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
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	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
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs61318457	SAP25	cis	Esophagus Muscularis	GTEx
rs61318457	SAP25	cis	Thyroid	GTEx
rs61318457	LRCH4	cis	Esophagus Muscularis	GTEx
rs61318457	SAP25	cis	Nerve Tibial	GTEx
rs61318457	SAP25	cis	Artery Tibial	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100184800-100187000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100184800-100187200	Weak transcription	Left Ventricle	heart
3	chr7:100184800-100187400	Weak transcription	Spleen	Spleen
4	chr7:100184800-100187600	Weak transcription	Right Ventricle	heart
5	chr7:100184800-100187800	Weak transcription	Lung	lung
6	chr7:100185000-100186200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:100185000-100186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:100185000-100186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:100185000-100187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:100185000-100187000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:100185000-100187000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:100185000-100187000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:100185000-100187000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:100185000-100187000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:100185000-100187000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:100185000-100187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:100185000-100187000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:100185000-100187000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:100185000-100187000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:100185000-100187000	Weak transcription	Fetal Kidney	kidney
21	chr7:100185000-100187000	Weak transcription	Fetal Stomach	stomach
22	chr7:100185000-100187000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:100185000-100187000	Weak transcription	Osteobl	bone
24	chr7:100185000-100187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:100185000-100187200	Weak transcription	Placenta	Placenta
26	chr7:100185000-100187400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:100185000-100187400	Weak transcription	NHLF	lung
28	chr7:100185000-100187600	Weak transcription	NHDF-Ad	bronchial
29	chr7:100185000-100187800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:100185000-100187800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100185000-100187800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:100185000-100187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:100185000-100187800	Weak transcription	Right Atrium	heart
34	chr7:100185000-100187800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:100185000-100188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:100185000-100188000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:100185000-100192000	Weak transcription	Esophagus	oesophagus
38	chr7:100185000-100197600	Weak transcription	Ovary	ovary
39	chr7:100185200-100187000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:100185600-100186200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:100185600-100187200	Enhancers	HepG2	liver
42	chr7:100185600-100187400	Enhancers	K562	blood
43	chr7:100185800-100187200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:100186000-100186200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:100186000-100186200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:100186000-100186200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:100186000-100186200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:100186000-100186200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:100186000-100186200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:100186000-100187200	Enhancers	Fetal Lung	lung

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