Variant report

Variant	rs59937851
Chromosome Location	chr7:100890252-100890253
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	POLR2A	chr7:100889551-100890512	K562	blood:	n/a	n/a
2	EBF1	chr7:100890077-100890361	GM12878	blood:	n/a	chr7:100890237-100890248
3	POLR2A	chr7:100889866-100890546	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:100890068-100890355	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:100890154-100890346	HUVEC	blood vessel:	n/a	n/a
6	EBF1	chr7:100890097-100890355	GM12878	blood:	n/a	chr7:100890237-100890248
7	POLR2A	chr7:100889978-100890373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:
2	chr7:100858478..100862757-chr7:100884994..100890276,15	MCF-7	breast:
3	chr7:100888737..100891690-chr7:100902094..100903966,2	MCF-7	breast:
4	chr7:100859374..100863045-chr7:100885733..100890781,8	K562	blood:
5	chr7:100888574..100891028-chr7:100920575..100922314,2	MCF-7	breast:
6	chr7:100804987..100809107-chr7:100886873..100890454,4	MCF-7	breast:

Variant related genes	Relation type
FIS1	TF binding region
ENSG00000106400	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000106397	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10215699	1.00[EUR][1000 genomes]
rs10230349	0.87[AMR][1000 genomes]
rs10230367	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10241107	1.00[EUR][1000 genomes]
rs10244139	1.00[AMR][1000 genomes]
rs10252307	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10252506	1.00[AMR][1000 genomes]
rs10254892	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10255195	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10257072	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10260707	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260813	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10270498	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10273837	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10487887	1.00[EUR][1000 genomes]
rs12333955	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12334190	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28535695	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28582264	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28629340	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28673822	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28689891	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56749963	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59554944	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60536711	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60719606	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946705	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946706	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947521	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947730	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6957526	1.00[EUR][1000 genomes]
rs6961873	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6964812	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967483	1.00[EUR][1000 genomes]
rs6975417	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979122	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979308	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979710	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979867	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73713820	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73713821	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7778271	0.95[EUR][1000 genomes]
rs7808669	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active 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	37 gene(s)	inside rSNPs	diseases
14	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs59937851	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs59937851	CLDN15	cis	Esophagus Muscularis	GTEx
rs59937851	FIS1	cis	Heart Left Ventricle	GTEx
rs59937851	FIS1	cis	Thyroid	GTEx
rs59937851	FIS1	cis	Esophagus Muscularis	GTEx
rs59937851	CLDN15	cis	Artery Tibial	GTEx
rs59937851	CLDN15	cis	Thyroid	GTEx
rs59937851	FIS1	cis	Adipose Subcutaneous	GTEx
rs59937851	FIS1	cis	Esophagus Mucosa	GTEx
rs59937851	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs59937851	FIS1	cis	Artery Tibial	GTEx
rs59937851	CLDN15	cis	multi-tissue	Pritchard
rs59937851	CLDN15	Cis_1M	lymphoblastoid	RTeQTL
rs59937851	FIS1	Cis_1M	lymphoblastoid	RTeQTL
rs59937851	CLDN15	cis	Whole Blood	GTEx
rs59937851	FIS1	cis	Whole Blood	GTEx
rs59937851	FIS1	cis	lung	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100888600-100893800	Weak transcription	Gastric	stomach
2	chr7:100888800-100890800	Weak transcription	Primary T cells from cord blood	blood
3	chr7:100888800-100892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:100888800-100893600	Weak transcription	HUVEC	blood vessel
5	chr7:100888800-100894600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:100888800-100894600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:100888800-100894600	Weak transcription	Aorta	Aorta
8	chr7:100888800-100894600	Weak transcription	Esophagus	oesophagus
9	chr7:100888800-100894600	Weak transcription	Fetal Kidney	kidney
10	chr7:100889000-100890400	Enhancers	Fetal Brain Female	brain
11	chr7:100889000-100890400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:100889000-100890800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:100889000-100892000	Weak transcription	Primary B cells from cord blood	blood
14	chr7:100889000-100892600	Weak transcription	Lung	lung
15	chr7:100889000-100893600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:100889000-100893800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:100889000-100893800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:100889000-100893800	Weak transcription	Colonic Mucosa	Colon
19	chr7:100889000-100893800	Weak transcription	Right Atrium	heart
20	chr7:100889000-100894200	Weak transcription	Osteobl	bone
21	chr7:100889000-100894400	Weak transcription	HSMM	muscle
22	chr7:100889000-100894600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:100889000-100894600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:100889000-100894600	Weak transcription	HSMMtube	muscle
25	chr7:100889000-100894600	Weak transcription	NH-A	brain
26	chr7:100889200-100890400	Genic enhancers	Brain Substantia Nigra	brain
27	chr7:100889200-100890800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:100889200-100890800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:100889200-100890800	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:100889200-100890800	Weak transcription	Left Ventricle	heart
31	chr7:100889200-100890800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:100889200-100891800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:100889200-100891800	Strong transcription	GM12878-XiMat	blood
34	chr7:100889200-100892400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:100889200-100892800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:100889200-100893600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:100889200-100893600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:100889200-100893600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:100889200-100893600	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:100889200-100893600	Strong transcription	Fetal Stomach	stomach
41	chr7:100889200-100893600	Weak transcription	NHDF-Ad	bronchial
42	chr7:100889200-100893800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:100889200-100893800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:100889200-100893800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:100889200-100893800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:100889200-100893800	Weak transcription	Fetal Heart	heart
47	chr7:100889200-100893800	Weak transcription	Ovary	ovary
48	chr7:100889200-100893800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:100889200-100893800	Weak transcription	NHLF	lung
50	chr7:100889200-100894400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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