Variant report

Variant	rs2407418
Chromosome Location	chr4:152122035-152122036
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	chr4:152114893..152116917-chr4:152120832..152122649,2	K562	blood:
2	chr4:152120488..152122139-chr4:152131128..152132730,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10016092	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10020297	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10020317	0.81[ASN][1000 genomes]
rs10434137	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10461254	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10461255	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10520101	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10520102	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776522	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11099792	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11099793	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11099796	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11734577	0.82[ASN][1000 genomes]
rs11934792	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11945206	0.94[ASN][1000 genomes]
rs12644496	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12647306	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12648512	0.81[ASN][1000 genomes]
rs13103344	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13111753	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13122609	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13125574	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2407222	0.94[ASN][1000 genomes]
rs2407223	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407407	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407408	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407409	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407410	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407412	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407413	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2407417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407431	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2407438	0.82[ASN][1000 genomes]
rs2897655	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897656	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4266274	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4312738	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4467540	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4591577	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696234	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696239	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847934	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7439970	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7688786	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv870229	chr4:152114410-152161072	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152097200-152123600	Weak transcription	Pancreas	Pancrea
2	chr4:152097200-152136600	Weak transcription	Colonic Mucosa	Colon
3	chr4:152097400-152123600	Weak transcription	Aorta	Aorta
4	chr4:152097600-152128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:152098400-152147200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:152113400-152124400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:152115000-152124000	Weak transcription	Psoas Muscle	Psoas
8	chr4:152117600-152123200	Weak transcription	Placenta	Placenta
9	chr4:152117600-152123600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:152117600-152124000	Weak transcription	NH-A	brain
11	chr4:152117600-152124200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:152117600-152124400	Weak transcription	A549	lung
13	chr4:152117600-152148800	Weak transcription	Esophagus	oesophagus
14	chr4:152118600-152124200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:152118600-152124200	Weak transcription	Stomach Mucosa	stomach
16	chr4:152118800-152123400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:152118800-152123400	Weak transcription	HSMM	muscle
18	chr4:152118800-152146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:152119000-152123400	Weak transcription	HSMMtube	muscle
20	chr4:152119000-152124000	Weak transcription	HUVEC	blood vessel
21	chr4:152119000-152139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:152119200-152129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:152119400-152122400	Enhancers	Brain Substantia Nigra	brain
24	chr4:152119400-152139400	Weak transcription	NHEK	skin
25	chr4:152119600-152122400	Enhancers	Fetal Lung	lung
26	chr4:152119800-152123400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:152120000-152122800	Enhancers	HepG2	liver
28	chr4:152120600-152123600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:152120600-152123600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:152120800-152122600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:152120800-152122600	Enhancers	Brain Hippocampus Middle	brain
32	chr4:152120800-152122800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:152120800-152122800	Enhancers	Adipose Nuclei	Adipose
34	chr4:152120800-152123200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:152120800-152123400	Weak transcription	Right Ventricle	heart
36	chr4:152120800-152123600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:152120800-152123600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:152120800-152123800	Weak transcription	Brain Anterior Caudate	brain
39	chr4:152120800-152123800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:152120800-152126200	Weak transcription	Spleen	Spleen
41	chr4:152120800-152128200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:152120800-152153800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:152121000-152122800	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:152121000-152123000	Weak transcription	Lung	lung
45	chr4:152121000-152123200	Weak transcription	Fetal Stomach	stomach
46	chr4:152121000-152123400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:152121000-152123400	Weak transcription	Left Ventricle	heart
48	chr4:152121000-152123600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:152121000-152123600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:152121000-152123600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links