Variant report

Variant	rs763480
Chromosome Location	chr4:106071597-106071598
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:105812145..105831361-chr4:106062414..106073665,101	MCF-7	breast:
2	chr4:106069706..106072401-chr4:106190053..106191894,2	K562	blood:
3	chr4:106070265..106072695-chr4:106079640..106082370,2	K562	blood:
4	chr4:106070816..106072685-chr4:106394532..106396510,2	MCF-7	breast:
5	chr4:105981331..105982913-chr4:106070883..106073179,2	MCF-7	breast:
6	chr4:105883010..105897017-chr4:106062943..106072055,55	MCF-7	breast:
7	chr4:105884036..105898505-chr4:106054854..106072562,138	MCF-7	breast:
8	chr4:105849643..105852121-chr4:106070083..106072880,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248373	Chromatin interaction
ENSG00000248242	Chromatin interaction
ENSG00000138777	Chromatin interaction
ENSG00000251906	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10010512	1.00[CHD][hapmap]
rs11728350	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127473	1.00[CHD][hapmap]
rs17035227	1.00[CHD][hapmap]
rs17035310	1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs17035311	0.93[CEU][hapmap]
rs17253672	1.00[CHD][hapmap]
rs17430251	0.83[GIH][hapmap];0.87[EUR][1000 genomes]
rs17508261	0.89[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs34402524	0.85[GIH][hapmap];0.83[EUR][1000 genomes]
rs6811026	1.00[CHD][hapmap]
rs6825684	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106064800-106071800	Active TSS	GM12878-XiMat	blood
2	chr4:106069400-106071800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:106069400-106071800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:106069400-106072000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:106069400-106072000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:106069400-106083200	Weak transcription	Pancreas	Pancrea
7	chr4:106069400-106087600	Weak transcription	Lung	lung
8	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
9	chr4:106069600-106073200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:106069800-106071800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:106069800-106071800	Enhancers	Hela-S3	cervix
13	chr4:106069800-106072000	Enhancers	Brain Angular Gyrus	brain
14	chr4:106069800-106072000	Enhancers	HepG2	liver
15	chr4:106069800-106072400	Enhancers	Fetal Heart	heart
16	chr4:106069800-106072400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:106069800-106075600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:106069800-106075800	Weak transcription	Aorta	Aorta
19	chr4:106069800-106080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:106069800-106080200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:106069800-106101000	Weak transcription	HSMM	muscle
22	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:106070000-106072000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:106070000-106072200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:106070000-106072400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:106070000-106072600	Enhancers	Adipose Nuclei	Adipose
27	chr4:106070200-106076000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:106070200-106076400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:106070200-106076800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:106070200-106080600	Weak transcription	Fetal Stomach	stomach
31	chr4:106070400-106071600	Weak transcription	HSMMtube	muscle
32	chr4:106070400-106071800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:106070400-106071800	Enhancers	Fetal Intestine Small	intestine
34	chr4:106070400-106071800	Enhancers	NHEK	skin
35	chr4:106070400-106072000	Enhancers	Brain Hippocampus Middle	brain
36	chr4:106070400-106072000	Enhancers	Brain Substantia Nigra	brain
37	chr4:106070400-106072000	Enhancers	Fetal Intestine Large	intestine
38	chr4:106070400-106072000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr4:106070400-106072400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
42	chr4:106070600-106071800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:106070600-106072000	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:106070600-106072200	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:106070600-106072200	Enhancers	K562	blood
46	chr4:106070600-106072400	Enhancers	Fetal Brain Male	brain
47	chr4:106070600-106072400	Enhancers	Stomach Mucosa	stomach
48	chr4:106070600-106080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:106070800-106071600	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:106070800-106071800	Enhancers	Right Atrium	heart

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