Variant report

Variant	rs196670
Chromosome Location	chr6:80113595-80113596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80109181..80111465-chr6:80112479..80114586,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10484943	1.00[ASN][1000 genomes]
rs1385530	0.98[ASN][1000 genomes]
rs16890623	0.85[ASN][1000 genomes]
rs16890716	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890720	0.98[ASN][1000 genomes]
rs174525	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17726513	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17743065	0.98[ASN][1000 genomes]
rs17743190	0.98[ASN][1000 genomes]
rs17799408	0.94[ASN][1000 genomes]
rs17799462	0.98[ASN][1000 genomes]
rs17799708	0.98[ASN][1000 genomes]
rs17799762	0.98[ASN][1000 genomes]
rs17799805	0.98[ASN][1000 genomes]
rs17800074	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs196667	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs196677	0.82[YRI][hapmap]
rs3846735	0.98[ASN][1000 genomes]
rs3857449	0.98[ASN][1000 genomes]
rs3857450	0.98[ASN][1000 genomes]
rs3857451	0.98[ASN][1000 genomes]
rs3857453	0.98[ASN][1000 genomes]
rs3857454	0.98[ASN][1000 genomes]
rs3907327	0.98[ASN][1000 genomes]
rs3907328	0.98[ASN][1000 genomes]
rs3907329	0.98[ASN][1000 genomes]
rs4092965	0.94[ASN][1000 genomes]
rs4364439	0.98[ASN][1000 genomes]
rs4580824	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715962	0.98[ASN][1000 genomes]
rs55805600	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989328	0.94[ASN][1000 genomes]
rs56226127	0.98[ASN][1000 genomes]
rs56277073	0.98[ASN][1000 genomes]
rs62411314	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62411317	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6925847	1.00[ASN][1000 genomes]
rs6939506	0.98[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Parasitemia in Tripanosoma cruzi seropositivity	24324551	GWAS catalog

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80109000-80115800	Enhancers	Fetal Intestine Large	intestine
2	chr6:80109600-80121200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:80110200-80114200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:80112000-80114800	Enhancers	Fetal Intestine Small	intestine
5	chr6:80112400-80113600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:80112400-80114200	Enhancers	Ovary	ovary
7	chr6:80112400-80114800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:80112600-80114400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:80113000-80113600	Enhancers	Brain Substantia Nigra	brain
10	chr6:80113000-80115000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:80113000-80115400	Enhancers	Liver	Liver
12	chr6:80113200-80113600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr6:80113200-80114200	Enhancers	HepG2	liver
14	chr6:80113400-80114000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:80113400-80114400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:80113400-80114400	Weak transcription	Stomach Mucosa	stomach
17	chr6:80113400-80122800	Weak transcription	Fetal Lung	lung

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