Variant report

Variant	rs6510478
Chromosome Location	chr19:35834621-35834622
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	chr19:35834132-35834849	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:35834081-35844229	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:35834015-35834708	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:35834201-35836155	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:35834068-35836071	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:35834134-35834638	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:35834000-35834951	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:35834030-35836136	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
MIR5196	TF binding region
CD22	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2312586	0.92[CHB][hapmap]
rs3746250	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1828194	chr19:35812566-35865695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067129	chr19:35827036-35849310	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6510478	CD22	cis	Thyroid	GTEx
rs6510478	MAG	cis	lung	GTEx
rs6510478	MAG	cis	Thyroid	GTEx
rs6510478	CD22	cis	lung	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35810400-35835200	Weak transcription	Fetal Lung	lung
2	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
3	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain
4	chr19:35824200-35837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:35825400-35838200	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr19:35825400-35838200	Strong transcription	Ovary	ovary
7	chr19:35828400-35838200	Strong transcription	Brain Hippocampus Middle	brain
8	chr19:35828600-35836400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:35829200-35835200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:35829600-35836800	Weak transcription	HepG2	liver
11	chr19:35830200-35836800	Strong transcription	Brain Substantia Nigra	brain
12	chr19:35832000-35836800	Strong transcription	Brain Cingulate Gyrus	brain
13	chr19:35832600-35835200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:35832600-35836600	Weak transcription	K562	blood
15	chr19:35832800-35838800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr19:35833000-35835200	Strong transcription	GM12878-XiMat	blood
17	chr19:35833000-35836400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:35833000-35836600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:35833200-35837000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:35833800-35834800	Weak transcription	Spleen	Spleen
21	chr19:35834200-35837200	Genic enhancers	Primary B cells from cord blood	blood

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