Variant report

Variant	rs60849645
Chromosome Location	chr19:52111209-52111210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52095050..52101084-chr19:52109884..52113073,5	K562	blood:
2	chr19:51976019..51976960-chr19:52110904..52111829,3	MCF-7	breast:
3	chr19:51975902..51976858-chr19:52110641..52111904,7	K562	blood:
4	chr19:51925306..51925905-chr19:52110885..52111418,2	K562	blood:
5	chr19:51992269..51994053-chr19:52109663..52112532,2	K562	blood:
6	chr19:51975869..51976891-chr19:52110720..52111476,3	MCF-7	breast:
7	chr19:52110942..52111788-chr19:52140328..52140831,2	K562	blood:
8	chr19:52110618..52112664-chr19:52114237..52116564,2	K562	blood:
9	chr19:52110839..52111869-chr19:52159924..52160844,8	MCF-7	breast:
10	chr19:51984388..51985223-chr19:52110978..52111688,2	MCF-7	breast:
11	chr19:52110880..52111497-chr19:52159833..52160812,2	MCF-7	breast:
12	chr19:52110881..52111404-chr19:52311887..52312611,2	K562	blood:
13	chr19:51971012..51974396-chr19:52110052..52112916,3	K562	blood:
14	chr19:52014752..52015262-chr19:52110932..52111494,2	K562	blood:
15	chr19:52110556..52111829-chr19:52157738..52158676,7	MCF-7	breast:
16	chr19:52110923..52111673-chr19:52140530..52141292,3	MCF-7	breast:
17	chr19:51986815..51988404-chr19:52108752..52111601,2	K562	blood:
18	chr19:52096302..52098952-chr19:52109884..52111633,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268957	Chromatin interaction
ENSG00000167765	Chromatin interaction
ENSG00000269388	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11881769	1.00[EUR][1000 genomes]
rs1316416	1.00[EUR][1000 genomes]
rs16982726	1.00[EUR][1000 genomes]
rs1868948	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41475550	1.00[EUR][1000 genomes]
rs4264499	1.00[EUR][1000 genomes]
rs61438598	1.00[EUR][1000 genomes]
rs7252415	1.00[EUR][1000 genomes]
rs7255600	1.00[EUR][1000 genomes]
rs7256103	1.00[EUR][1000 genomes]
rs7256250	1.00[EUR][1000 genomes]
rs73562867	1.00[EUR][1000 genomes]
rs73934238	1.00[EUR][1000 genomes]
rs73934242	1.00[EUR][1000 genomes]
rs73934243	1.00[EUR][1000 genomes]
rs73934244	1.00[EUR][1000 genomes]
rs73934245	1.00[EUR][1000 genomes]
rs73934247	1.00[EUR][1000 genomes]
rs73934249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108256	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
3	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
4	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
8	nsv510771	chr19:52103717-52153348	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
10	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
11	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
12	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
13	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
14	nsv2532	chr19:52109105-52186946	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52108200-52112400	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:52109400-52111800	Enhancers	Primary B cells from cord blood	blood
3	chr19:52109600-52114200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:52110200-52111600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:52110600-52111800	Flanking Active TSS	GM12878-XiMat	blood
6	chr19:52110600-52114200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr19:52111000-52111600	Enhancers	Spleen	Spleen
8	chr19:52111200-52111400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr19:52111200-52111600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links