Variant report

Variant	rs4673388
Chromosome Location	chr2:209148365-209148366
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	chr2:209131018..209132806-chr2:209148294..209150467,2	K562	blood:

Variant related genes	Relation type
ENSG00000115020	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12185547	0.96[AFR][1000 genomes]
rs12465862	0.96[AFR][1000 genomes]
rs12478198	0.96[AFR][1000 genomes]
rs13394932	0.82[AFR][1000 genomes]
rs1446320	0.96[AFR][1000 genomes]
rs1446321	0.96[AFR][1000 genomes]
rs1838794	0.96[AFR][1000 genomes]
rs1838795	0.96[AFR][1000 genomes]
rs1838796	0.96[AFR][1000 genomes]
rs2028146	0.96[AFR][1000 genomes]
rs2043720	0.96[AFR][1000 genomes]
rs2044457	0.96[AFR][1000 genomes]
rs2363463	0.96[AFR][1000 genomes]
rs2885785	0.96[AFR][1000 genomes]
rs4673386	0.96[AFR][1000 genomes]
rs4673387	0.94[AMR][1000 genomes]
rs4673389	0.84[AMR][1000 genomes]
rs4675745	0.96[AFR][1000 genomes]
rs6705163	0.96[AFR][1000 genomes]
rs6754478	0.96[AFR][1000 genomes]
rs7564882	0.96[AFR][1000 genomes]
rs7576852	0.96[AFR][1000 genomes]
rs7605498	0.96[AFR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:209135200-209148800	Strong transcription	Dnd41	blood
4	chr2:209135800-209149000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:209136000-209149200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:209136000-209149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:209136000-209149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:209136200-209148400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:209136200-209148400	Strong transcription	Adipose Nuclei	Adipose
13	chr2:209136200-209148400	Strong transcription	Placenta	Placenta
14	chr2:209136200-209148600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:209136200-209148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:209136200-209148600	Strong transcription	Liver	Liver
17	chr2:209136200-209148600	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:209136200-209148600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:209136200-209148800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr2:209136200-209149000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:209137600-209148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:209137800-209148600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:209137800-209148600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:209137800-209149000	Strong transcription	A549	lung
28	chr2:209137800-209155000	Strong transcription	Fetal Intestine Large	intestine
29	chr2:209138000-209148800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:209138000-209149200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:209138000-209149200	Strong transcription	HepG2	liver
32	chr2:209138000-209155600	Strong transcription	Thymus	Thymus
33	chr2:209138200-209148400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:209138200-209148600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:209139000-209155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
37	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
38	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
39	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:209140400-209148600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:209140400-209148600	Strong transcription	Fetal Lung	lung
42	chr2:209140400-209148600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:209141000-209149200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
46	chr2:209143400-209152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:209143800-209150400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:209143800-209152800	Weak transcription	Fetal Heart	heart
49	chr2:209143800-209154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:209143800-209154800	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links