Variant report

Variant	rs4234424
Chromosome Location	chr3:133925519-133925520
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12493731	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs28648514	0.82[EUR][1000 genomes]
rs4234422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234423	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4408870	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447762	0.90[AMR][1000 genomes]
rs4470517	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577436	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4634087	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4682655	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682656	0.83[EUR][1000 genomes]
rs4682657	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs4682665	0.95[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682672	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4854617	0.85[CEU][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854618	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854619	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854813	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55688777	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56104814	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56205980	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271183	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439459	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439467	0.94[EUR][1000 genomes]
rs6439470	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs6439471	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6764932	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779423	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6783989	0.86[EUR][1000 genomes]
rs6787345	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6791361	0.82[EUR][1000 genomes]
rs6795532	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795658	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799962	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71807032	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7431604	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7433368	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7611104	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616326	0.82[EUR][1000 genomes]
rs7627059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631521	0.91[EUR][1000 genomes]
rs7633386	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634265	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289461	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812346	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843401	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862959	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870797	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs9883217	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs9884008	0.83[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133874400-133929400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:133874600-133933600	Weak transcription	Colonic Mucosa	Colon
3	chr3:133877600-133935200	Weak transcription	Psoas Muscle	Psoas
4	chr3:133877800-133950200	Weak transcription	Small Intestine	intestine
5	chr3:133894800-133935200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:133894800-133946800	Weak transcription	Pancreas	Pancrea
7	chr3:133895000-133950000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:133895000-133950200	Weak transcription	Gastric	stomach
9	chr3:133895200-133927200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:133895600-133942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:133902000-133930400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:133903000-133929000	Weak transcription	GM12878-XiMat	blood
13	chr3:133907800-133927400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:133909200-133943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:133911600-133929600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:133911600-133929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:133918000-133930200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:133918000-133930400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:133918400-133930400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:133919000-133929800	Weak transcription	Right Ventricle	heart
21	chr3:133919000-133950600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:133919400-133943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:133919600-133930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:133919800-133940200	Weak transcription	Esophagus	oesophagus
25	chr3:133920000-133940200	Weak transcription	Fetal Intestine Small	intestine
26	chr3:133920200-133925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:133920200-133934000	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:133920200-133938200	Weak transcription	Fetal Brain Male	brain
29	chr3:133920400-133926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:133920400-133929800	Weak transcription	Brain Germinal Matrix	brain
31	chr3:133920400-133938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:133920600-133927000	Weak transcription	K562	blood
33	chr3:133920600-133929600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:133920600-133932000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:133920600-133938400	Weak transcription	HSMMtube	muscle
36	chr3:133920600-133940600	Weak transcription	A549	lung
37	chr3:133920800-133927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:133920800-133927200	Weak transcription	Fetal Kidney	kidney
39	chr3:133920800-133928200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:133920800-133929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:133920800-133931800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:133920800-133932000	Weak transcription	Ovary	ovary
43	chr3:133920800-133940600	Weak transcription	Thymus	Thymus
44	chr3:133920800-133950200	Weak transcription	Aorta	Aorta
45	chr3:133920800-133950200	Weak transcription	Spleen	Spleen
46	chr3:133920800-133950600	Weak transcription	Hela-S3	cervix
47	chr3:133921200-133926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:133921200-133926400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:133921200-133926600	Weak transcription	HSMM	muscle
50	chr3:133921200-133926800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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