Variant report

Variant	rs8106871
Chromosome Location	chr19:42651600-42651601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42650733..42654783-chr19:42655622..42659821,6	K562	blood:
2	chr19:42642687..42645504-chr19:42651036..42652587,2	K562	blood:

Variant related genes	Relation type
ENSG00000259436	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10500285	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11878917	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12232804	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16975663	0.80[ASN][1000 genomes]
rs17270057	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17270169	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17342067	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17342179	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17342284	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736109	0.87[AMR][1000 genomes]
rs3826705	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251466	0.91[AMR][1000 genomes]
rs7253767	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253791	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253915	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs899661	0.85[AMR][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42637600-42658200	Weak transcription	Right Atrium	heart
2	chr19:42638400-42652200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:42640200-42659400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:42640400-42651800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:42640400-42652000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:42640400-42652000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:42640800-42652000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:42640800-42652200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:42642800-42652000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr19:42642800-42653800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:42643200-42654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:42644400-42652600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:42644600-42653800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:42647600-42651600	Weak transcription	Primary T cells from cord blood	blood
15	chr19:42648000-42653000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:42649800-42653800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:42650400-42651800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:42651000-42653000	Weak transcription	Brain Germinal Matrix	brain
19	chr19:42651400-42653800	Weak transcription	Fetal Brain Female	brain
20	chr19:42651600-42652600	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links