Variant report

Variant	rs16872594
Chromosome Location	chr4:22387916-22387917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1500464	1.00[ASN][1000 genomes]
rs16872501	1.00[AFR][1000 genomes]
rs16872551	1.00[AFR][1000 genomes]
rs28523424	0.94[AMR][1000 genomes]
rs28631312	0.94[AMR][1000 genomes]
rs28758596	0.94[AMR][1000 genomes]
rs3733314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3814416	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4697313	1.00[AFR][1000 genomes]
rs61792020	0.81[AMR][1000 genomes]
rs61792024	0.81[AMR][1000 genomes]
rs61792025	0.81[AMR][1000 genomes]
rs61792026	0.81[AMR][1000 genomes]
rs9654097	0.97[ASN][1000 genomes]

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	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv428756	chr4:22239826-22406106	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22329000-22389400	Weak transcription	Pancreas	Pancrea
2	chr4:22368800-22418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:22372000-22400400	Weak transcription	Gastric	stomach
5	chr4:22376400-22389200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:22377600-22389800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:22378600-22389200	Weak transcription	Aorta	Aorta
8	chr4:22381400-22390200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:22382400-22389200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:22382400-22389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:22382600-22409600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:22383200-22388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:22383200-22438000	Weak transcription	Lung	lung
14	chr4:22383400-22388200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:22383400-22389400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:22383600-22389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:22383600-22389600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:22383600-22404200	Weak transcription	Fetal Kidney	kidney
19	chr4:22383600-22442800	Weak transcription	A549	lung
20	chr4:22384200-22389200	Weak transcription	Left Ventricle	heart
21	chr4:22384200-22389400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:22384200-22389400	Weak transcription	Adipose Nuclei	Adipose
23	chr4:22384200-22389400	Weak transcription	Right Ventricle	heart
24	chr4:22384200-22389600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:22384200-22400400	Weak transcription	Ovary	ovary
26	chr4:22384200-22401000	Weak transcription	Small Intestine	intestine
27	chr4:22384200-22413000	Weak transcription	Fetal Heart	heart
28	chr4:22384400-22389600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:22384600-22390800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:22384600-22392000	Weak transcription	Stomach Mucosa	stomach
31	chr4:22384600-22392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:22384600-22393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:22385200-22389400	Weak transcription	HepG2	liver
34	chr4:22385200-22389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:22385200-22391000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:22385200-22391400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:22385200-22391600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:22385400-22430400	Weak transcription	Psoas Muscle	Psoas
39	chr4:22385800-22389600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:22386000-22389400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
42	chr4:22386200-22389200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:22386400-22388000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:22386400-22388000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:22386600-22388400	Enhancers	HMEC	breast
46	chr4:22386600-22394400	Strong transcription	Liver	Liver
47	chr4:22386600-22394600	Strong transcription	Fetal Intestine Large	intestine
48	chr4:22386800-22388000	Enhancers	HSMM	muscle
49	chr4:22386800-22388200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:22386800-22388200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links