Variant report

Variant	rs7781361
Chromosome Location	chr7:64260114-64260115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000197008	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10085758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10155953	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10244479	0.81[ASN][1000 genomes]
rs10251806	0.83[ASN][1000 genomes]
rs10949938	0.81[EUR][1000 genomes]
rs10949947	0.83[ASN][1000 genomes]
rs10949948	0.83[ASN][1000 genomes]
rs11760270	0.82[EUR][1000 genomes]
rs11974982	0.85[ASN][1000 genomes]
rs11983033	0.82[EUR][1000 genomes]
rs13226426	0.85[ASN][1000 genomes]
rs13228575	0.83[ASN][1000 genomes]
rs13230564	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1608899	0.82[EUR][1000 genomes]
rs2015939	0.83[ASN][1000 genomes]
rs2418465	0.83[ASN][1000 genomes]
rs2863927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717217	0.84[ASN][1000 genomes]
rs4718114	0.82[EUR][1000 genomes]
rs4718142	0.81[ASN][1000 genomes]
rs60113999	0.86[ASN][1000 genomes]
rs6956129	0.82[EUR][1000 genomes]
rs6956610	0.82[EUR][1000 genomes]
rs6976052	0.86[EUR][1000 genomes]
rs73142715	0.82[EUR][1000 genomes]
rs73142719	0.82[EUR][1000 genomes]
rs7783765	0.83[ASN][1000 genomes]
rs7785735	0.84[ASN][1000 genomes]
rs7787287	0.83[ASN][1000 genomes]
rs7789149	0.84[ASN][1000 genomes]
rs7790203	0.83[ASN][1000 genomes]
rs7792444	0.86[ASN][1000 genomes]
rs7793057	0.86[ASN][1000 genomes]
rs7802289	0.83[ASN][1000 genomes]
rs7809177	0.84[ASN][1000 genomes]
rs9647840	0.80[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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs7781361	RP11-797H7.3	cis	Esophagus Mucosa	GTEx
rs7781361	RP11-797H7.3	cis	Esophagus Muscularis	GTEx
rs7781361	RP11-460N20.5	cis	Thyroid	GTEx
rs7781361	RP11-797H7.3	cis	Thyroid	GTEx
rs7781361	SEPHS1P1	cis	Nerve Tibial	GTEx
rs7781361	RP11-797H7.5	cis	Thyroid	GTEx
rs7781361	RP11-797H7.3	cis	Heart Left Ventricle	GTEx
rs7781361	RP11-797H7.3	cis	Artery Tibial	GTEx
rs7781361	RP11-460N20.5	cis	Adipose Subcutaneous	GTEx
rs7781361	RP11-797H7.3	cis	Adipose Subcutaneous	GTEx
rs7781361	SEPHS1P1	cis	Esophagus Muscularis	GTEx
rs7781361	RP11-797H7.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7781361	RP11-797H7.3	cis	Whole Blood	GTEx
rs7781361	SEPHS1P1	cis	Thyroid	GTEx
rs7781361	SEPHS1P1	cis	Muscle Skeletal	GTEx
rs7781361	SEPHS1P1	cis	Artery Tibial	GTEx
rs7781361	SEPHS1P1	cis	Skin Sun Exposed Lower leg	GTEx
rs7781361	INTS4L1	cis	Skin Sun Exposed Lower leg	GTEx
rs7781361	RP11-797H7.3	cis	Nerve Tibial	GTEx
rs7781361	RP11-797H7.3	cis	Artery Aorta	GTEx
rs7781361	RP11-797H7.3	cis	Muscle Skeletal	GTEx
rs7781361	SEPHS1P1	cis	Adipose Subcutaneous	GTEx
rs7781361	RP11-797H7.5	cis	lung	GTEx
rs7781361	RP11-797H7.5	cis	Nerve Tibial	GTEx
rs7781361	RP11-797H7.3	cis	lung	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255600-64260600	Weak transcription	Colonic Mucosa	Colon
3	chr7:64255600-64262000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:64255600-64266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:64255800-64262400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
7	chr7:64255800-64272600	Weak transcription	NHLF	lung
8	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
9	chr7:64255800-64293200	Weak transcription	NH-A	brain
10	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
11	chr7:64256000-64260200	Weak transcription	HSMMtube	muscle
12	chr7:64256000-64264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
15	chr7:64256200-64260200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:64256400-64260200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:64256400-64260200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:64256400-64260400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:64256400-64261400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:64256400-64262000	Weak transcription	Stomach Mucosa	stomach
21	chr7:64256400-64262600	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:64256400-64263800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:64256400-64276800	Weak transcription	HMEC	breast
24	chr7:64256600-64262000	Weak transcription	Fetal Lung	lung
25	chr7:64256600-64262200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:64256600-64262200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:64256600-64262600	Weak transcription	Fetal Brain Female	brain
28	chr7:64256600-64263200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:64256600-64266000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:64256600-64266000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:64256600-64268200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:64256800-64260200	Weak transcription	Brain Anterior Caudate	brain
33	chr7:64256800-64260200	Weak transcription	HSMM	muscle
34	chr7:64256800-64260400	Weak transcription	K562	blood
35	chr7:64256800-64260600	Weak transcription	Hela-S3	cervix
36	chr7:64256800-64261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:64256800-64263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:64256800-64264800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:64256800-64266400	Weak transcription	Fetal Brain Male	brain
40	chr7:64256800-64269600	Weak transcription	Gastric	stomach
41	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
42	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
43	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
44	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
46	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
47	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:64257000-64260200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:64257000-64264200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:64257200-64260400	Strong transcription	Fetal Stomach	stomach

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