Variant report

Variant	rs122815
Chromosome Location	chr7:150940657-150940658
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	chr7:150935363-150940669	U87	brain:	n/a	n/a
2	CTCF	chr7:150940291-150943350	SK-N-SH	brain:	n/a	chr7:150941938-150941951 chr7:150940479-150940497 chr7:150941560-150941581 chr7:150941941-150941954 chr7:150940585-150940598 chr7:150941920-150941929 chr7:150941977-150941986
3	POLR2A	chr7:150935782-150941408	U87	brain:	n/a	n/a
4	IRF1	chr7:150940419-150940893	K562	blood:	n/a	chr7:150940637-150940651 chr7:150940637-150940647 chr7:150940636-150940648 chr7:150940635-150940648 chr7:150940637-150940648 chr7:150940635-150940649 chr7:150940631-150940652 chr7:150940633-150940647 chr7:150940638-150940649
5	IRF1	chr7:150940474-150940684	K562	blood:	n/a	chr7:150940637-150940651 chr7:150940637-150940647 chr7:150940636-150940648 chr7:150940635-150940648 chr7:150940637-150940648 chr7:150940635-150940649 chr7:150940631-150940652 chr7:150940633-150940647 chr7:150940638-150940649
6	MAZ	chr7:150940460-150940703	GM12878	blood:	n/a	chr7:150940675-150940685 chr7:150940585-150940595
7	POLR2A	chr7:150932457-150941238	U87	brain:	n/a	n/a
8	IRF1	chr7:150940469-150940799	K562	blood:	n/a	chr7:150940637-150940651 chr7:150940637-150940647 chr7:150940636-150940648 chr7:150940635-150940648 chr7:150940637-150940648 chr7:150940635-150940649 chr7:150940631-150940652 chr7:150940633-150940647 chr7:150940638-150940649
9	POLR2A	chr7:150935932-150940768	SK-N-SH	brain:	n/a	n/a
10	BCL11A	chr7:150940448-150940720	GM12878	blood:	n/a	n/a
11	PRDM1	chr7:150940185-150940822	Hela-S3	cervix:	n/a	chr7:150940640-150940649 chr7:150940636-150940650 chr7:150940636-150940649 chr7:150940635-150940650
12	CHD2	chr7:150940553-150940691	GM12878	blood:	n/a	chr7:150940677-150940687

No.	Distal block	Cell Line	Cell type
1	chr7:150923495..150927436-chr7:150940006..150942925,4	MCF-7	breast:
2	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
3	chr7:150819780..150822617-chr7:150940406..150943194,3	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000033050	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233700	0.90[ASN][1000 genomes]
rs12216605	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs219227	0.97[ASN][1000 genomes]
rs219228	0.97[ASN][1000 genomes]
rs219231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[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]
rs219234	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2290736	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2792430	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2792432	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3807385	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823589	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59066922	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs59828731	0.90[ASN][1000 genomes]
rs6977933	0.86[CHB][hapmap];0.94[JPT][hapmap]

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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs122815	GLP1R	trans	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
2	chr7:150931600-150940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
4	chr7:150932800-150940800	Weak transcription	HUVEC	blood vessel
5	chr7:150932800-150942000	Weak transcription	Psoas Muscle	Psoas
6	chr7:150933400-150940800	Strong transcription	HSMM	muscle
7	chr7:150936400-150941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:150936400-150942200	Weak transcription	HMEC	breast
9	chr7:150936800-150940800	Weak transcription	Brain Substantia Nigra	brain
10	chr7:150936800-150941000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:150936800-150941800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:150937400-150941200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:150937600-150941200	Weak transcription	Right Atrium	heart
14	chr7:150938600-150941800	Weak transcription	NH-A	brain
15	chr7:150938800-150941000	Weak transcription	Fetal Heart	heart
16	chr7:150939200-150941600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:150939200-150941600	Weak transcription	A549	lung
18	chr7:150939200-150942000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:150939200-150942000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:150939400-150941000	Weak transcription	Gastric	stomach
21	chr7:150939400-150941800	Enhancers	Fetal Brain Male	brain
22	chr7:150939400-150941800	Enhancers	HepG2	liver
23	chr7:150939600-150940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:150939600-150940800	Weak transcription	Left Ventricle	heart
25	chr7:150939600-150941800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:150939600-150941800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:150939600-150942000	Weak transcription	Aorta	Aorta
28	chr7:150939800-150940800	Enhancers	Placenta	Placenta
29	chr7:150939800-150941200	Weak transcription	Ovary	ovary
30	chr7:150939800-150941400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:150939800-150941600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:150939800-150941600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr7:150939800-150941600	Weak transcription	Osteobl	bone
34	chr7:150939800-150941800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:150940000-150940800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr7:150940000-150940800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:150940000-150940800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:150940000-150940800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
39	chr7:150940000-150940800	Enhancers	Brain Hippocampus Middle	brain
40	chr7:150940000-150940800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:150940000-150941000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:150940000-150941000	Genic enhancers	Right Ventricle	heart
43	chr7:150940000-150941000	Weak transcription	HSMMtube	muscle
44	chr7:150940000-150941200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:150940000-150941200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:150940000-150941200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:150940000-150941200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:150940000-150941400	Flanking Active TSS	Dnd41	blood
49	chr7:150940000-150941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:150940000-150941800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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