Variant report

Variant	rs2372020
Chromosome Location	chr7:83668574-83668575
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
2	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1534075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16887610	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17158521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158529	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158583	1.00[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs3735516	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801604	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41323648	0.85[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59023591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60359427	0.82[ASN][1000 genomes]
rs61482260	0.82[ASN][1000 genomes]
rs66493308	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67536627	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68158025	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181988	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73183709	0.91[EUR][1000 genomes]
rs73185435	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73185447	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185469	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185480	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187439	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187440	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187443	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187445	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187447	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73187448	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73187451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187453	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187455	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187457	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187458	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187460	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187462	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187464	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187466	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187470	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187479	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187480	0.86[ASN][1000 genomes]
rs73189355	0.82[ASN][1000 genomes]
rs73189358	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2372020	KIAA0408	trans	brain	seeQTL
rs2372020	MBTD1	trans	brain	seeQTL
rs2372020	PCYOX1	trans	brain	seeQTL
rs2372020	SEMA3A	cis	lymphoblastoid	seeQTL
rs2372020	PAFAH2	trans	brain	seeQTL
rs2372020	SLC25A16	trans	brain	seeQTL
rs2372020	C14orf153	trans	brain	seeQTL
rs2372020	TMEM19	trans	brain	seeQTL
rs2372020	CCDC144B	trans	brain	seeQTL
rs2372020	LYRM7	trans	brain	seeQTL
rs2372020	SLC5A8	trans	brain	seeQTL
rs2372020	DSN1	trans	brain	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:83652200-83680200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83652400-83671400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:83655400-83669800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:83655400-83671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83655400-83671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83655600-83669600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83655600-83671000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:83655600-83671000	Weak transcription	A549	lung
10	chr7:83655600-83673200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:83661800-83669600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:83663600-83668800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:83666600-83672800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:83667000-83671200	Weak transcription	NHLF	lung
15	chr7:83667200-83670200	Strong transcription	NHDF-Ad	bronchial
16	chr7:83667600-83672800	Weak transcription	Fetal Lung	lung
17	chr7:83668000-83672800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:83668400-83669800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:83668400-83674200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:83668400-83676000	Weak transcription	Fetal Muscle Leg	muscle

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