Variant report

Variant	rs7808669
Chromosome Location	chr7:100882090-100882091
allele	A/G
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	chr7:100881756-100882388	K562	blood:	n/a	n/a
2	POLR2A	chr7:100881384-100884442	K562	blood:	n/a	n/a
3	MAZ	chr7:100880667-100882489	IMR90	lung:	n/a	chr7:100881200-100881210 chr7:100881158-100881168 chr7:100881196-100881206
4	POLR2A	chr7:100881746-100882110	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:100880765-100882134	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:100881877-100882962	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr7:100880613-100882236	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100858977..100861910-chr7:100881462..100883229,2	K562	blood:
2	chr7:100859877..100865511-chr7:100878168..100882490,7	MCF-7	breast:
3	chr7:100881101..100885645-chr7:100894081..100896862,4	MCF-7	breast:
4	chr7:100858331..100862020-chr7:100880126..100882464,3	K562	blood:

Variant related genes	Relation type
CLDN15	TF binding region
ENSG00000214253	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106400	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10215699	1.00[EUR][1000 genomes]
rs10230367	0.86[EUR][1000 genomes]
rs10241107	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252307	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10254892	0.86[EUR][1000 genomes]
rs10255195	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10257072	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10260707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10260813	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10265206	0.87[CEU][hapmap];0.82[GIH][hapmap]
rs10270498	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10273837	0.86[EUR][1000 genomes]
rs10487887	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12333955	0.95[EUR][1000 genomes]
rs12334190	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs28535695	0.86[EUR][1000 genomes]
rs28582264	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs28629340	0.86[EUR][1000 genomes]
rs28673822	0.84[EUR][1000 genomes]
rs28689891	0.86[EUR][1000 genomes]
rs56749963	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59554944	0.95[EUR][1000 genomes]
rs59937851	1.00[EUR][1000 genomes]
rs60536711	0.95[EUR][1000 genomes]
rs60719606	0.95[EUR][1000 genomes]
rs6946705	0.95[EUR][1000 genomes]
rs6946706	0.95[EUR][1000 genomes]
rs6947016	0.95[EUR][1000 genomes]
rs6947521	0.95[EUR][1000 genomes]
rs6947730	0.95[EUR][1000 genomes]
rs6957526	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961873	0.95[EUR][1000 genomes]
rs6964812	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967483	0.87[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975417	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6979122	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979308	0.95[EUR][1000 genomes]
rs6979710	0.95[EUR][1000 genomes]
rs6979867	0.95[EUR][1000 genomes]
rs73713820	0.86[EUR][1000 genomes]
rs73713821	0.86[EUR][1000 genomes]
rs7778271	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[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:20)

SNP	Gene	Cis/trans	Tissue	Source
rs7808669	FIS1	cis	Esophagus Mucosa	GTEx
rs7808669	FIS1	cis	Artery Tibial	GTEx
rs7808669	CLDN15	cis	Artery Tibial	GTEx
rs7808669	FIS1	cis	lung	GTEx
rs7808669	FIS1	cis	lymphoblastoid	seeQTL
rs7808669	CLDN15	cis	multi-tissue	Pritchard
rs7808669	FIS1	cis	Nerve Tibial	GTEx
rs7808669	FIS1	cis	Esophagus Muscularis	GTEx
rs7808669	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs7808669	CLDN15	Cis_1M	lymphoblastoid	RTeQTL
rs7808669	FIS1	cis	Heart Left Ventricle	GTEx
rs7808669	CLDN15	cis	Esophagus Muscularis	GTEx
rs7808669	FIS1	cis	Thyroid	GTEx
rs7808669	FIS1	cis	Adipose Subcutaneous	GTEx
rs7808669	FIS1	cis	Stomach	GTEx
rs7808669	FIS1	Cis_1M	lymphoblastoid	RTeQTL
rs7808669	FIS1	cis	Artery Aorta	GTEx
rs7808669	FIS1	cis	Whole Blood	GTEx
rs7808669	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs7808669	CLDN15	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
2	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
5	chr7:100865000-100884800	Strong transcription	Thymus	Thymus
6	chr7:100868400-100887600	Weak transcription	Small Intestine	intestine
7	chr7:100868800-100884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:100876000-100887000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100876200-100883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100876200-100884400	Weak transcription	HMEC	breast
11	chr7:100876400-100883000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:100876400-100887000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:100876800-100883200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:100876800-100883200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:100876800-100886800	Weak transcription	Fetal Brain Male	brain
16	chr7:100877200-100884400	Strong transcription	Fetal Brain Female	brain
17	chr7:100877400-100884600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:100877600-100882600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:100878000-100882800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:100878000-100884600	Genic enhancers	Spleen	Spleen
21	chr7:100878200-100884600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:100878200-100885000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:100878400-100882200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:100878400-100883000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:100878400-100884000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:100878400-100884400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr7:100878600-100883000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:100878600-100884800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:100878800-100882600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:100878800-100884200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:100879000-100883000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:100879000-100884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:100879000-100884600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:100879200-100883800	Strong transcription	Esophagus	oesophagus
35	chr7:100879200-100884400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:100879200-100884600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:100879400-100883000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr7:100879600-100882400	Genic enhancers	Lung	lung
39	chr7:100879600-100883000	Strong transcription	Gastric	stomach
40	chr7:100879600-100884600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:100879600-100884600	Strong transcription	Brain Germinal Matrix	brain
42	chr7:100879800-100884200	Strong transcription	Dnd41	blood
43	chr7:100880000-100882200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:100880000-100882600	Weak transcription	Primary T cells from cord blood	blood
45	chr7:100880000-100882600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:100880000-100884400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:100880200-100884600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:100880200-100884800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:100880200-100885600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr7:100880400-100882400	Flanking Active TSS	Adipose Nuclei	Adipose

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