Variant report

Variant	rs7919
Chromosome Location	chr16:70514828-70514829
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
2	chr16:70507845..70510277-chr16:70513994..70516516,2	K562	blood:
3	chr16:70513484..70515449-chr16:70517366..70519641,2	K562	blood:
4	chr16:70412596..70415415-chr16:70513984..70516318,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 36 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11075767	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs11075770	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs11641683	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11643373	0.85[CHD][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap]
rs11645437	0.91[JPT][hapmap]
rs11645585	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11648402	0.88[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.86[YRI][hapmap]
rs11866400	0.87[JPT][hapmap]
rs12446395	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs12447090	0.83[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12597401	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs12925729	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs12933634	0.82[ASN][1000 genomes]
rs2168606	0.81[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.83[YRI][hapmap]
rs2288491	0.83[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2303792	0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2303793	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs34087264	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs3762171	0.89[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs3852695	0.82[YRI][hapmap]
rs3859068	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4284632	0.95[JPT][hapmap]
rs4436771	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs4513092	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6499320	0.95[JPT][hapmap];0.83[YRI][hapmap]
rs7189474	0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs7192268	0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs7194521	0.83[ASN][1000 genomes]
rs7199859	0.84[ASN][1000 genomes]
rs7200430	0.89[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7201750	0.88[CHD][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.83[YRI][hapmap]
rs7204583	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs722579	0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs744672	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8045651	0.84[ASN][1000 genomes]
rs8049641	0.83[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs8051506	0.83[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs8052125	0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8053436	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs8057610	0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs8057766	0.83[LWK][hapmap];0.83[YRI][hapmap]
rs8058224	0.83[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs8062178	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap]
rs8062183	0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs8063990	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs8064013	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs936994	0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.80[TSI][hapmap]
rs9921696	0.86[LWK][hapmap];0.83[YRI][hapmap]
rs9925510	0.88[LWK][hapmap];0.86[YRI][hapmap]
rs9929904	0.84[ASN][1000 genomes]
rs9934440	0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs9936225	0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:36)

SNP	Gene	Cis/trans	Tissue	Source
rs7919	EXOSC6	cis	parietal	SCAN
rs7919	PDXDC2P	cis	Nerve Tibial	GTEx
rs7919	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs7919	EXOSC6	cis	Heart Left Ventricle	GTEx
rs7919	CLEC18A	cis	Whole Blood	GTEx
rs7919	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs7919	NFAT5	cis	cerebellum	SCAN
rs7919	TMCO7	cis	parietal	SCAN
rs7919	EXOSC6	cis	uninvolved skin	skin_eQTL
rs7919	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs7919	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs7919	EXOSC6	cis	lung	GTEx
rs7919	ZFP90	cis	cerebellum	SCAN
rs7919	PDXDC2P	cis	Muscle Skeletal	GTEx
rs7919	EXOSC6	cis	Adipose Subcutaneous	GTEx
rs7919	PDPR	cis	parietal	SCAN
rs7919	WWP2	cis	parietal	SCAN
rs7919	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs7919	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs7919	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7919	ACD	cis	parietal	SCAN
rs7919	EXOSC6	cis	cerebellum	SCAN
rs7919	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs7919	PDPR	cis	cerebellum	SCAN
rs7919	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs7919	RP11-296I10.6	cis	Artery Tibial	GTEx
rs7919	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs7919	PDXDC2P	cis	Thyroid	GTEx
rs7919	RP11-296I10.6	cis	lung	GTEx
rs7919	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs7919	EXOSC6	cis	Artery Tibial	GTEx
rs7919	EXOSC6	cis	Esophagus Muscularis	GTEx
rs7919	EXOSC6	cis	Muscle Skeletal	GTEx
rs7919	RP11-296I10.6	cis	Heart Left Ventricle	GTEx
rs7919	RANBP10	cis	parietal	SCAN
rs7919	RP11-296I10.6	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
3	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
4	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
5	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
6	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:70504400-70535200	Strong transcription	Liver	Liver
10	chr16:70505800-70515600	Weak transcription	K562	blood
11	chr16:70506000-70518200	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr16:70506200-70515800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:70506200-70518800	Strong transcription	Brain Cingulate Gyrus	brain
14	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:70506400-70517400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:70506600-70522800	Weak transcription	Fetal Brain Male	brain
18	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:70506800-70518000	Strong transcription	Pancreas	Pancrea
20	chr16:70507000-70518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:70507000-70518800	Strong transcription	Fetal Brain Female	brain
22	chr16:70507000-70520400	Strong transcription	Brain Anterior Caudate	brain
23	chr16:70509400-70515400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:70509800-70516000	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:70510600-70519000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:70510800-70518800	Strong transcription	Primary B cells from cord blood	blood
27	chr16:70511000-70515600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:70511000-70515800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
30	chr16:70511400-70515600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:70511400-70526200	Strong transcription	Thymus	Thymus
32	chr16:70511600-70524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:70511800-70515600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:70511800-70516800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:70511800-70518400	Strong transcription	Gastric	stomach
36	chr16:70511800-70518800	Strong transcription	Dnd41	blood
37	chr16:70511800-70524800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:70512000-70515400	Strong transcription	Hela-S3	cervix
40	chr16:70512000-70515800	Strong transcription	HepG2	liver
41	chr16:70512000-70516000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:70512000-70518000	Strong transcription	Brain Substantia Nigra	brain
43	chr16:70512000-70518200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr16:70512000-70518800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:70512000-70518800	Strong transcription	Ovary	ovary
46	chr16:70512000-70519000	Strong transcription	Brain Germinal Matrix	brain
47	chr16:70512000-70524600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr16:70512200-70516800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr16:70512200-70516800	Genic enhancers	NHEK	skin

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