Variant report

Variant	rs178733
Chromosome Location	chr7:127775349-127775350
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	chr7:127773375..127775632-chr7:127776520..127778934,2	K562	blood:
2	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:
3	chr7:127775242..127776690-chr7:127849539..127850451,13	K562	blood:
4	chr7:127290259..127292033-chr7:127774841..127777045,2	K562	blood:
5	chr7:127224953..127226743-chr7:127774765..127776324,2	K562	blood:
6	chr7:127774436..127777299-chr7:127779150..127782660,3	K562	blood:
7	chr7:127770457..127772622-chr7:127774413..127777391,3	MCF-7	breast:
8	chr7:127775194..127776324-chr7:127839452..127840478,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs184430	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322730	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322732	0.85[ASN][1000 genomes]
rs322738	0.94[ASN][1000 genomes]
rs322749	0.84[ASN][1000 genomes]
rs322751	0.84[ASN][1000 genomes]
rs322752	0.91[ASN][1000 genomes]
rs322755	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322760	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322761	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322762	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322765	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322766	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322768	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322770	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322771	0.97[ASN][1000 genomes]
rs322775	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322778	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322780	0.88[ASN][1000 genomes]
rs322782	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322783	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322784	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322785	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322786	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322787	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322790	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322791	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322806	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322807	0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322808	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322809	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322811	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322812	0.81[CEU][hapmap];0.94[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322818	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs322827	0.80[CHB][hapmap]
rs322828	0.80[CHB][hapmap]
rs5028619	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6960004	0.89[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127774600-127775400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr7:127774600-127775400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr7:127774600-127775400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127774600-127775400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:127774600-127775400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:127774600-127775400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr7:127774600-127775400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr7:127774600-127775400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr7:127774600-127775400	Active TSS	Right Atrium	heart
10	chr7:127774600-127775600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr7:127774600-127775600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:127774600-127775600	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr7:127774600-127775600	Bivalent Enhancer	Fetal Stomach	stomach
14	chr7:127774600-127775800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:127774600-127776000	Bivalent Enhancer	Placenta	Placenta
16	chr7:127774600-127776600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:127774600-127776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:127774800-127775400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr7:127774800-127775400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr7:127774800-127775400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:127774800-127775400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
22	chr7:127774800-127775400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
23	chr7:127774800-127775400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:127774800-127775400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr7:127774800-127775400	Enhancers	Right Ventricle	heart
26	chr7:127774800-127775400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr7:127774800-127775400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr7:127774800-127775400	Bivalent Enhancer	HSMM	muscle
29	chr7:127774800-127775600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:127774800-127775600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
31	chr7:127774800-127775600	Bivalent Enhancer	Fetal Thymus	thymus
32	chr7:127774800-127775600	Enhancers	Pancreas	Pancrea
33	chr7:127774800-127775600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr7:127774800-127775600	Bivalent Enhancer	NH-A	brain
35	chr7:127774800-127775800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:127774800-127775800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:127774800-127776000	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr7:127774800-127776600	Bivalent Enhancer	Fetal Heart	heart
39	chr7:127774800-127776800	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr7:127775000-127775400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr7:127775000-127775400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr7:127775000-127775400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:127775000-127775400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:127775000-127775400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr7:127775000-127775400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:127775000-127775400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:127775000-127775400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:127775000-127775400	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr7:127775000-127775400	Bivalent Enhancer	Liver	Liver
50	chr7:127775000-127775400	Bivalent Enhancer	Colon Smooth Muscle	Colon

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