Variant report

Variant	rs34995835
Chromosome Location	chr7:99990364-99990365
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99988956..99991156-chr7:99997016..99999433,2	K562	blood:
2	chr7:99987127..99989737-chr7:99990266..99992845,2	K562	blood:
3	chr7:99968617..99970756-chr7:99989605..99991411,2	K562	blood:
4	chr7:99989101..99992789-chr7:99996981..99999855,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12539172	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs1476679	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405442	0.92[CEU][hapmap];0.80[TSI][hapmap]
rs2906657	0.88[ASN][1000 genomes]
rs34919929	1.00[CEU][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs5015756	0.81[CEU][hapmap]
rs60738304	0.90[EUR][1000 genomes]
rs6971558	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34995835	GATS	cis	parietal	SCAN
rs34995835	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs34995835	ORAI2	cis	parietal	SCAN
rs34995835	PILRB	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:99972600-99996000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:99972800-99994800	Weak transcription	Spleen	Spleen
6	chr7:99973000-99999400	Weak transcription	Brain Anterior Caudate	brain
7	chr7:99976200-99998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:99985400-99994800	Weak transcription	Ovary	ovary
9	chr7:99987200-99991000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
11	chr7:99988200-99994200	Weak transcription	Fetal Thymus	thymus
12	chr7:99988600-99994800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:99988600-99994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:99988600-99994800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:99988600-99999800	Weak transcription	Gastric	stomach
16	chr7:99989400-99990800	Genic enhancers	Monocytes-CD14+_RO01746	blood
17	chr7:99989600-99991000	Enhancers	GM12878-XiMat	blood
18	chr7:99989600-99993400	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:99989600-99995400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:99989800-99990400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:99989800-99991000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:99990000-99990600	Enhancers	Osteobl	bone

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