Variant report

Variant	rs6044163
Chromosome Location	chr20:16590042-16590043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16589932..16591784-chr20:16595469..16597980,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2050405	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2143985	0.87[CHB][hapmap]
rs2143989	0.92[ASN][1000 genomes]
rs2179904	0.82[CHB][hapmap]
rs2277778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2328048	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4813224	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs4813226	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4814510	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs4814512	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6034521	0.82[CHB][hapmap]
rs6034527	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs6034530	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6034534	0.89[ASN][1000 genomes]
rs6044137	0.89[ASN][1000 genomes]
rs6044143	0.92[ASN][1000 genomes]
rs6075072	0.94[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs6080336	1.00[YRI][hapmap]
rs6111175	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6131844	0.82[ASN][1000 genomes]
rs910319	0.83[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057674	chr20:16564642-16593209	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv1055217	chr20:16568062-16596470	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16587000-16593200	Enhancers	Fetal Intestine Large	intestine
2	chr20:16587400-16590600	Enhancers	Fetal Brain Male	brain
3	chr20:16587800-16590400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr20:16587800-16590600	Enhancers	Fetal Lung	lung
5	chr20:16588000-16592400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr20:16588200-16590400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:16588800-16590400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr20:16588800-16590800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:16589000-16590200	Weak transcription	Left Ventricle	heart
10	chr20:16589000-16592600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr20:16589000-16593000	Enhancers	Fetal Intestine Small	intestine
12	chr20:16589200-16592200	Weak transcription	Colonic Mucosa	Colon
13	chr20:16589200-16596000	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:16589400-16593400	Weak transcription	HSMMtube	muscle
15	chr20:16589600-16590200	Weak transcription	Small Intestine	intestine
16	chr20:16589800-16590200	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:16589800-16590200	Enhancers	Right Ventricle	heart
18	chr20:16589800-16590600	Enhancers	Pancreas	Pancrea
19	chr20:16589800-16596200	Weak transcription	Fetal Kidney	kidney
20	chr20:16590000-16591400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr20:16590000-16596000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr20:16590000-16596400	Weak transcription	Ovary	ovary
23	chr20:16590000-16602400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links