Variant report

Variant	rs1050092
Chromosome Location	chr4:175158212-175158213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175150650..175152595-chr4:175157441..175159670,2	K562	blood:
2	chr4:175157690..175159437-chr4:175203129..175205248,2	MCF-7	breast:
3	chr4:175157100..175158801-chr4:175165642..175167350,2	K562	blood:

Variant related genes	Relation type
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1046702	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17060418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17060434	1.00[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17060436	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17060455	0.82[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs17060459	0.82[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs17358230	1.00[TSI][hapmap]
rs62335800	0.88[AFR][1000 genomes]
rs72993311	0.83[ASN][1000 genomes]
rs72993314	0.83[ASN][1000 genomes]
rs72993320	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7665095	0.88[YRI][hapmap]
rs7685970	1.00[ASW][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7699942	1.00[ASW][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147000-175163000	Weak transcription	Fetal Stomach	stomach
2	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
3	chr4:175149200-175158400	Weak transcription	Fetal Intestine Large	intestine
4	chr4:175151000-175163200	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:175151600-175158400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:175151600-175162600	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:175151800-175169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
10	chr4:175152000-175158400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:175152000-175158400	Weak transcription	Left Ventricle	heart
12	chr4:175152000-175165400	Weak transcription	NHDF-Ad	bronchial
13	chr4:175152400-175162000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:175152600-175169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:175153000-175158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:175153000-175174200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:175153200-175169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:175153200-175184000	Weak transcription	Lung	lung
21	chr4:175153400-175160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:175154200-175161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
25	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
26	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:175154400-175202400	Weak transcription	Gastric	stomach
28	chr4:175154800-175159200	Weak transcription	Thymus	Thymus
29	chr4:175155400-175166800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
31	chr4:175155600-175177000	Weak transcription	Fetal Kidney	kidney
32	chr4:175155600-175178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
34	chr4:175156200-175161200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:175156200-175162800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:175156200-175169600	Weak transcription	HSMMtube	muscle
37	chr4:175156200-175174400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:175156200-175174400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:175156400-175158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:175156400-175161200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:175156400-175162400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr4:175156600-175158400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:175156600-175159000	Strong transcription	Primary T cells from cord blood	blood
44	chr4:175156600-175159600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:175156600-175161600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:175156600-175162400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr4:175156600-175165000	Weak transcription	HSMM	muscle
48	chr4:175156600-175181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:175156800-175160200	Weak transcription	Small Intestine	intestine
50	chr4:175156800-175165400	Weak transcription	HMEC	breast

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