Variant report

Variant	rs7622046
Chromosome Location	chr3:133932823-133932824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133929438..133933511-chr3:133934266..133936727,4	K562	blood:
2	chr3:133931051..133933200-chr3:134201381..134203725,2	MCF-7	breast:
3	chr3:133932485..133934305-chr3:133939759..133941803,2	MCF-7	breast:
4	chr3:133650886..133653497-chr3:133930540..133932971,2	MCF-7	breast:
5	chr3:133930775..133933152-chr3:133968044..133970596,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163785	Chromatin interaction
ENSG00000129055	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10935104	0.82[EUR][1000 genomes]
rs1131262	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707763	0.88[ASN][1000 genomes]
rs11915143	0.88[ASN][1000 genomes]
rs35322473	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3890774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4072180	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324466	0.89[ASN][1000 genomes]
rs4682664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682668	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682669	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55689708	0.81[ASN][1000 genomes]
rs56073423	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439465	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439466	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6650893	0.88[ASN][1000 genomes]
rs6762690	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6776502	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6780295	0.88[ASN][1000 genomes]
rs6800143	0.89[ASN][1000 genomes]
rs6808085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355922	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7609611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283588	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9812461	0.85[ASN][1000 genomes]
rs9818714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9823873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9825808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827728	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9832732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853568	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9856298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9856792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858450	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9858707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133874600-133933600	Weak transcription	Colonic Mucosa	Colon
2	chr3:133877600-133935200	Weak transcription	Psoas Muscle	Psoas
3	chr3:133877800-133950200	Weak transcription	Small Intestine	intestine
4	chr3:133894800-133935200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:133894800-133946800	Weak transcription	Pancreas	Pancrea
6	chr3:133895000-133950000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:133895000-133950200	Weak transcription	Gastric	stomach
8	chr3:133895600-133942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:133909200-133943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:133919000-133950600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:133919400-133943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:133919800-133940200	Weak transcription	Esophagus	oesophagus
13	chr3:133920000-133940200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:133920200-133934000	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:133920200-133938200	Weak transcription	Fetal Brain Male	brain
16	chr3:133920400-133938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:133920600-133938400	Weak transcription	HSMMtube	muscle
18	chr3:133920600-133940600	Weak transcription	A549	lung
19	chr3:133920800-133940600	Weak transcription	Thymus	Thymus
20	chr3:133920800-133950200	Weak transcription	Aorta	Aorta
21	chr3:133920800-133950200	Weak transcription	Spleen	Spleen
22	chr3:133920800-133950600	Weak transcription	Hela-S3	cervix
23	chr3:133921400-133934600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:133921600-133937200	Weak transcription	Fetal Stomach	stomach
25	chr3:133921600-133941800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:133921800-133943000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:133923800-133934200	Strong transcription	Primary B cells from cord blood	blood
28	chr3:133924600-133941800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:133928600-133949400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:133930000-133933400	Enhancers	HMEC	breast
31	chr3:133930000-133934200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:133930000-133935800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:133930000-133942400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr3:133930000-133950000	Weak transcription	NHDF-Ad	bronchial
35	chr3:133930000-133950400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:133930000-133954600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:133930200-133933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:133930200-133933200	Weak transcription	GM12878-XiMat	blood
39	chr3:133930200-133933400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:133930200-133934400	Weak transcription	Fetal Brain Female	brain
41	chr3:133930200-133935000	Weak transcription	Fetal Intestine Large	intestine
42	chr3:133930200-133935800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:133930200-133935800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:133930200-133937400	Weak transcription	HepG2	liver
45	chr3:133930200-133938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:133930200-133939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:133930200-133940600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:133930200-133941400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:133930200-133941600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:133930200-133941800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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