Variant report

Variant	rs62337516
Chromosome Location	chr4:144285873-144285874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144284857..144287398-chr4:144288484..144291385,2	K562	blood:
2	chr4:144283863..144286903-chr4:144287176..144291126,4	K562	blood:
3	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
4	chr4:144257678..144260213-chr4:144284163..144287062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10155329	0.85[AMR][1000 genomes]
rs10598	0.85[AMR][1000 genomes]
rs2323011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28925882	0.82[AFR][1000 genomes]
rs28925887	0.82[AFR][1000 genomes]
rs28989215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28989221	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28989224	1.00[EUR][1000 genomes]
rs28989225	1.00[EUR][1000 genomes]
rs28989230	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337486	0.89[EUR][1000 genomes]
rs62337489	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337511	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337512	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62337513	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337514	0.89[EUR][1000 genomes]
rs62337515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337519	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337524	1.00[EUR][1000 genomes]
rs62337525	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337526	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337527	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337528	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337529	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337530	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337531	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337532	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6828635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs745164	1.00[AMR][1000 genomes];0.89[EUR][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	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018566	chr4:144284927-144298930	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv437941	chr4:144285683-144295952	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
4	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
5	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
7	chr4:144281200-144290000	Weak transcription	Fetal Stomach	stomach
8	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
10	chr4:144281800-144286000	Enhancers	Brain Substantia Nigra	brain
11	chr4:144281800-144293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:144282000-144291200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:144282600-144286000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:144282800-144290600	Weak transcription	Fetal Lung	lung
15	chr4:144283000-144286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:144283000-144290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:144283000-144290800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:144283000-144290800	Weak transcription	Gastric	stomach
19	chr4:144283000-144291200	Weak transcription	Ovary	ovary
20	chr4:144283000-144293400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:144283000-144295400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:144283200-144293400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:144284000-144286000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:144284000-144293600	Weak transcription	Spleen	Spleen
26	chr4:144284000-144296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:144284000-144296600	Weak transcription	Fetal Thymus	thymus
28	chr4:144284200-144286400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:144284200-144287000	Weak transcription	Brain Anterior Caudate	brain
30	chr4:144284200-144295600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:144284400-144290600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:144284400-144299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:144284600-144286000	Enhancers	Placenta	Placenta
34	chr4:144284600-144288000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:144284600-144290000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:144284600-144290000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:144284600-144290800	Weak transcription	Fetal Intestine Large	intestine
38	chr4:144284600-144291200	Weak transcription	Fetal Intestine Small	intestine
39	chr4:144284600-144295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:144284600-144295200	Weak transcription	K562	blood
41	chr4:144284800-144286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:144284800-144290000	Weak transcription	Brain Angular Gyrus	brain
43	chr4:144284800-144295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:144285000-144290000	Weak transcription	Small Intestine	intestine
45	chr4:144285000-144290400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:144285000-144290800	Weak transcription	Right Ventricle	heart
47	chr4:144285200-144287800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:144285200-144290000	Weak transcription	Left Ventricle	heart
49	chr4:144285200-144290000	Weak transcription	Lung	lung
50	chr4:144285200-144290000	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links