Variant report

Variant	rs370760
Chromosome Location	chr7:101715222-101715223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101458190..101460276-chr7:101714926..101717278,2	MCF-7	breast:
2	chr7:101714618..101716538-chr7:101724031..101725533,2	K562	blood:
3	chr7:101714618..101716441-chr7:101723476..101725531,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10268506	1.00[CHB][hapmap]
rs365397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375417	0.87[CEU][hapmap]
rs376183	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs377587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411844	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413348	1.00[ASN][1000 genomes]
rs420709	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs421154	1.00[ASN][1000 genomes]
rs421430	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294126	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438908	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs370760	TRIP6	cis	parietal	SCAN
rs370760	BRI3	cis	cerebellum	SCAN
rs370760	ZKSCAN5	cis	parietal	SCAN
rs370760	CUX1	cis	cerebellum	SCAN
rs370760	C7orf59	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
2	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:101707400-101715800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:101707600-101716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:101708200-101722000	Weak transcription	NH-A	brain
7	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
9	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:101708400-101720400	Weak transcription	HMEC	breast
11	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
12	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
13	chr7:101708400-101726000	Weak transcription	NHEK	skin
14	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
15	chr7:101711000-101723200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:101711800-101715800	Strong transcription	Liver	Liver
17	chr7:101711800-101717000	Strong transcription	HepG2	liver
18	chr7:101712000-101715800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:101712000-101716000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:101712000-101716000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:101712000-101718000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:101712000-101719600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:101712200-101716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:101712400-101718800	Strong transcription	Fetal Intestine Large	intestine
25	chr7:101712800-101719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:101712800-101721800	Weak transcription	Fetal Heart	heart
27	chr7:101713000-101716400	ZNF genes & repeats	GM12878-XiMat	blood
28	chr7:101713200-101715400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:101713200-101715600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:101713200-101716000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:101713400-101715400	Strong transcription	Placenta	Placenta
32	chr7:101713600-101715400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:101713600-101715600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:101713600-101716000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:101713600-101716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:101713800-101715400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:101713800-101715600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:101713800-101715600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr7:101713800-101715600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:101713800-101715600	Strong transcription	Ovary	ovary
41	chr7:101713800-101715800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:101713800-101715800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr7:101713800-101715800	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr7:101713800-101715800	Strong transcription	Gastric	stomach
45	chr7:101713800-101716000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr7:101714000-101715400	Strong transcription	Right Ventricle	heart
47	chr7:101714000-101715600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:101714000-101715600	Strong transcription	Left Ventricle	heart
49	chr7:101714000-101716400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:101714000-101717000	Weak transcription	Stomach Mucosa	stomach

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