Variant report

Variant	rs6829390
Chromosome Location	chr4:48198986-48198987
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	chr4:48196328..48199209-chr4:48271124..48272856,2	K562	blood:
2	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10021919	0.88[JPT][hapmap]
rs1159075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11722540	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11724904	0.81[TSI][hapmap]
rs11933797	0.81[TSI][hapmap]
rs11942525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11944638	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16861044	0.88[JPT][hapmap]
rs16861106	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs16861108	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs17470919	0.81[JPT][hapmap]
rs17471142	0.81[JPT][hapmap]
rs17574399	0.88[JPT][hapmap]
rs2136504	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2353296	0.81[TSI][hapmap]
rs2456928	0.88[JPT][hapmap]
rs2661528	0.87[CHB][hapmap]
rs2704401	0.87[CHB][hapmap]
rs34585972	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3749503	0.88[JPT][hapmap]
rs3792619	0.88[JPT][hapmap]
rs66944352	0.93[ASN][1000 genomes]
rs73138446	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73138447	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73138450	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73138478	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73814690	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs996223	0.88[JPT][hapmap]

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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
3	chr4:48195000-48199000	Enhancers	K562	blood
4	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:48195200-48199400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:48196200-48200000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:48196200-48207200	Weak transcription	Lung	lung
8	chr4:48196600-48199000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:48197800-48199200	Weak transcription	Primary B cells from cord blood	blood
10	chr4:48198000-48199400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:48198000-48199800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:48198000-48200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:48198000-48203000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:48198200-48199200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:48198200-48199400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:48198200-48203600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:48198200-48207200	Weak transcription	Pancreas	Pancrea
18	chr4:48198400-48199000	Active TSS	GM12878-XiMat	blood
19	chr4:48198400-48199200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:48198400-48199600	Weak transcription	Stomach Mucosa	stomach
21	chr4:48198600-48199000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:48198600-48199800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:48198800-48200200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:48198800-48201400	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links