Variant report

Variant	rs4718114
Chromosome Location	chr7:64262273-64262274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64253641..64257580-chr7:64258986..64262428,5	K562	blood:
2	chr7:64252597..64259122-chr7:64259592..64265160,8	MCF-7	breast:
3	chr7:64261731..64264304-chr7:64363092..64364909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197008	Chromatin interaction
ENSG00000198039	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10085758	0.82[EUR][1000 genomes]
rs10279535	0.81[ASN][1000 genomes]
rs10949938	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760270	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11770219	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11983033	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1405006	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1608899	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2863927	0.82[EUR][1000 genomes]
rs4518551	0.84[ASN][1000 genomes]
rs4717220	0.82[ASN][1000 genomes]
rs4718122	0.82[ASN][1000 genomes]
rs4718125	0.82[ASN][1000 genomes]
rs55683815	0.89[ASN][1000 genomes]
rs58478503	0.82[AMR][1000 genomes]
rs61512917	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6956129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6956610	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961445	0.89[ASN][1000 genomes]
rs73126358	0.86[ASN][1000 genomes]
rs73126387	0.82[ASN][1000 genomes]
rs73130313	0.81[ASN][1000 genomes]
rs73130314	0.81[ASN][1000 genomes]
rs73142704	0.83[ASN][1000 genomes]
rs73142715	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73142719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73142749	0.89[ASN][1000 genomes]
rs7781361	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv970858	chr7:64258046-64264349	Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs4718114	SEPHS1P1	cis	Adipose Subcutaneous	GTEx
rs4718114	RP11-797H7.3	cis	Thyroid	GTEx
rs4718114	RP11-460N20.5	cis	Thyroid	GTEx
rs4718114	ZNF273	cis	lung	GTEx
rs4718114	RP11-797H7.3	cis	Esophagus Mucosa	GTEx
rs4718114	RP11-797H7.3	cis	Heart Left Ventricle	GTEx
rs4718114	RP11-797H7.5	cis	Thyroid	GTEx
rs4718114	RP11-797H7.3	cis	lung	GTEx
rs4718114	RP11-797H7.3	cis	Artery Aorta	GTEx
rs4718114	RP11-797H7.3	cis	Adipose Subcutaneous	GTEx
rs4718114	RP11-460N20.5	cis	lung	GTEx
rs4718114	SEPHS1P1	cis	Artery Tibial	GTEx
rs4718114	SEPHS1P1	cis	Esophagus Muscularis	GTEx
rs4718114	RP11-797H7.3	cis	Muscle Skeletal	GTEx
rs4718114	RP11-797H7.5	cis	Nerve Tibial	GTEx
rs4718114	RP11-797H7.5	cis	lung	GTEx
rs4718114	SEPHS1P1	cis	Thyroid	GTEx
rs4718114	RP11-797H7.3	cis	Nerve Tibial	GTEx
rs4718114	RP11-797H7.3	cis	Artery Tibial	GTEx
rs4718114	RP11-797H7.3	cis	Esophagus Muscularis	GTEx
rs4718114	RP11-797H7.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4718114	SEPHS1P1	cis	Nerve Tibial	GTEx
rs4718114	SEPHS1P1	cis	Stomach	GTEx
rs4718114	RP11-797H7.3	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255600-64266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:64255800-64262400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
5	chr7:64255800-64272600	Weak transcription	NHLF	lung
6	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
7	chr7:64255800-64293200	Weak transcription	NH-A	brain
8	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
9	chr7:64256000-64264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
12	chr7:64256400-64262600	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:64256400-64263800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:64256400-64276800	Weak transcription	HMEC	breast
15	chr7:64256600-64262600	Weak transcription	Fetal Brain Female	brain
16	chr7:64256600-64263200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:64256600-64266000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:64256600-64266000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:64256600-64268200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:64256800-64263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:64256800-64264800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:64256800-64266400	Weak transcription	Fetal Brain Male	brain
23	chr7:64256800-64269600	Weak transcription	Gastric	stomach
24	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
25	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
26	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
27	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
29	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:64257000-64264200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:64257400-64263400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:64257400-64265800	Strong transcription	Primary B cells from cord blood	blood
34	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:64257600-64263400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:64257800-64266800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:64258600-64262600	ZNF genes & repeats	GM12878-XiMat	blood
38	chr7:64258600-64263400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr7:64258800-64263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:64259000-64263400	Strong transcription	Fetal Intestine Large	intestine
41	chr7:64259200-64263000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:64259400-64264200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:64259600-64262800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:64259600-64267200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:64259800-64262800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:64259800-64263400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:64259800-64264000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:64259800-64264400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:64260000-64267200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:64260200-64262400	Strong transcription	HSMM	muscle

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