Variant report

Variant	rs10252506
Chromosome Location	chr7:100892102-100892103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10230349	0.87[AMR][1000 genomes]
rs10230367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244139	1.00[AMR][1000 genomes]
rs10252307	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254892	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255195	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257072	0.83[AMR][1000 genomes]
rs10260707	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10260813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270498	0.83[AMR][1000 genomes]
rs10273837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12333955	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334190	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs28535695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28629340	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28673822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28689891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56749963	0.83[AMR][1000 genomes]
rs59554944	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59937851	1.00[AMR][1000 genomes]
rs60536711	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60719606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946706	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947730	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6961873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6964812	0.93[AMR][1000 genomes]
rs6975417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979122	0.83[AMR][1000 genomes]
rs6979308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979710	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713821	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713822	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	nsv970916	chr7:100890266-100893923	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10252506	FIS1	cis	lung	GTEx
rs10252506	CLDN15	Cis_1M	lymphoblastoid	RTeQTL
rs10252506	CLDN15	cis	Artery Tibial	GTEx
rs10252506	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10252506	FIS1	cis	Thyroid	GTEx
rs10252506	FIS1	cis	Artery Tibial	GTEx
rs10252506	CLDN15	cis	Thyroid	GTEx
rs10252506	FIS1	cis	Esophagus Muscularis	GTEx
rs10252506	FIS1	cis	Adipose Subcutaneous	GTEx
rs10252506	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs10252506	FIS1	Cis_1M	lymphoblastoid	RTeQTL

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	chr7:100888800-100892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:100888800-100893600	Weak transcription	HUVEC	blood vessel
4	chr7:100888800-100894600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:100888800-100894600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:100888800-100894600	Weak transcription	Aorta	Aorta
7	chr7:100888800-100894600	Weak transcription	Esophagus	oesophagus
8	chr7:100888800-100894600	Weak transcription	Fetal Kidney	kidney
9	chr7:100889000-100892600	Weak transcription	Lung	lung
10	chr7:100889000-100893600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:100889000-100893800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:100889000-100893800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:100889000-100893800	Weak transcription	Colonic Mucosa	Colon
14	chr7:100889000-100893800	Weak transcription	Right Atrium	heart
15	chr7:100889000-100894200	Weak transcription	Osteobl	bone
16	chr7:100889000-100894400	Weak transcription	HSMM	muscle
17	chr7:100889000-100894600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:100889000-100894600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:100889000-100894600	Weak transcription	HSMMtube	muscle
20	chr7:100889000-100894600	Weak transcription	NH-A	brain
21	chr7:100889200-100892400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:100889200-100892800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:100889200-100893600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:100889200-100893600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:100889200-100893600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:100889200-100893600	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:100889200-100893600	Strong transcription	Fetal Stomach	stomach
28	chr7:100889200-100893600	Weak transcription	NHDF-Ad	bronchial
29	chr7:100889200-100893800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:100889200-100893800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:100889200-100893800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:100889200-100893800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:100889200-100893800	Weak transcription	Fetal Heart	heart
34	chr7:100889200-100893800	Weak transcription	Ovary	ovary
35	chr7:100889200-100893800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:100889200-100893800	Weak transcription	NHLF	lung
37	chr7:100889200-100894400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:100889200-100894600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:100889400-100892200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:100889400-100892400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:100889400-100892400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:100889400-100892400	Weak transcription	Thymus	Thymus
43	chr7:100889400-100892600	Weak transcription	Fetal Brain Male	brain
44	chr7:100889400-100892600	Strong transcription	Fetal Thymus	thymus
45	chr7:100889400-100893600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:100889400-100893600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:100889400-100893600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:100889400-100893600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:100889400-100893600	Weak transcription	Right Ventricle	heart
50	chr7:100889400-100893600	Weak transcription	NHEK	skin

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