Variant report

Variant	rs37997
Chromosome Location	chr7:8032205-8032206
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8018316..8019921-chr7:8030363..8032239,2	K562	blood:
2	chr7:8024866..8028296-chr7:8029359..8032813,3	K562	blood:
3	chr7:8008420..8010478-chr7:8031319..8034117,3	K562	blood:
4	chr7:8007363..8010547-chr7:8028829..8033493,5	MCF-7	breast:
5	chr7:8031148..8034343-chr7:8035102..8037694,3	MCF-7	breast:
6	chr7:8008789..8010478-chr7:8031319..8034117,2	K562	blood:
7	chr7:8031024..8033296-chr7:8034611..8036346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10226050	0.85[YRI][hapmap]
rs10226865	0.85[CEU][hapmap]
rs10229643	0.86[YRI][hapmap]
rs10238003	0.83[EUR][1000 genomes]
rs10241457	0.82[MEX][hapmap]
rs10264999	0.85[CEU][hapmap]
rs10278726	0.96[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs10281919	0.85[EUR][1000 genomes]
rs10486205	0.86[YRI][hapmap]
rs11976862	0.82[MEX][hapmap]
rs11981372	0.85[CEU][hapmap]
rs1476823	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs17568389	0.96[CEU][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs258850	0.83[EUR][1000 genomes]
rs258851	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs37976	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs37977	0.83[YRI][hapmap]
rs37979	0.86[EUR][1000 genomes]
rs37981	0.80[YRI][hapmap]
rs37982	0.87[EUR][1000 genomes]
rs37986	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs37987	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs37988	0.86[YRI][hapmap]
rs37994	0.91[MEX][hapmap]
rs37995	0.82[MEX][hapmap];0.82[YRI][hapmap]
rs37996	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs37998	0.82[MEX][hapmap];0.80[YRI][hapmap]
rs38000	0.84[EUR][1000 genomes]
rs38004	0.86[YRI][hapmap]
rs38006	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs38007	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs38008	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs38009	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs38011	0.86[YRI][hapmap]
rs38012	0.87[MEX][hapmap];0.90[YRI][hapmap]
rs38013	0.83[ASW][hapmap];0.91[MEX][hapmap];0.90[YRI][hapmap]
rs38014	0.86[YRI][hapmap]
rs38015	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs38016	0.80[AFR][1000 genomes]
rs38018	0.83[ASW][hapmap];0.82[YRI][hapmap]
rs38021	0.86[YRI][hapmap]
rs38022	0.90[YRI][hapmap]
rs4140809	0.82[MEX][hapmap]
rs4256496	0.85[CEU][hapmap]
rs4720761	0.82[MEX][hapmap]
rs4725055	0.85[CEU][hapmap]
rs4725056	0.81[EUR][1000 genomes]
rs4725060	0.89[YRI][hapmap]
rs4725065	0.92[CEU][hapmap];0.87[AMR][1000 genomes]
rs6463753	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs6953808	0.83[EUR][1000 genomes]
rs7796831	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7808399	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs7810540	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9655516	0.85[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][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	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs37997	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL
rs37997	LOC389458	cis	cerebellum	SCAN
rs37997	GLCCI1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:8027600-8034800	Weak transcription	Fetal Thymus	thymus
3	chr7:8029000-8039000	Weak transcription	Thymus	Thymus
4	chr7:8029200-8043600	Weak transcription	Small Intestine	intestine
5	chr7:8029600-8035200	ZNF genes & repeats	GM12878-XiMat	blood
6	chr7:8029600-8037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:8029800-8033800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:8029800-8046400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
10	chr7:8031200-8033400	ZNF genes & repeats	Liver	Liver
11	chr7:8031400-8032800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:8032000-8035600	Weak transcription	Hela-S3	cervix

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