Variant report

Variant	rs17406148
Chromosome Location	chr3:43337712-43337713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43329569..43331859-chr3:43336954..43339880,3	MCF-7	breast:
2	chr3:43332997..43335477-chr3:43335619..43338331,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs17075422	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075525	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075540	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075545	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075561	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075564	0.86[AFR][1000 genomes]
rs17075568	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075570	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075614	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075623	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075624	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17254716	1.00[AMR][1000 genomes]
rs17320381	1.00[AMR][1000 genomes]
rs17405728	1.00[AMR][1000 genomes]
rs17406718	0.86[AFR][1000 genomes]
rs17472888	1.00[AMR][1000 genomes]
rs2036617	0.88[AFR][1000 genomes]
rs34343482	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34730190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41321344	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55694436	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727302	1.00[AMR][1000 genomes]
rs55730605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55760455	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55765643	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786717	0.97[AFR][1000 genomes]
rs55804512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55837468	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55864645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55887904	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55908419	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55915337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55951861	1.00[AMR][1000 genomes]
rs55957435	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56100043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56225070	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56282728	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56285372	1.00[AMR][1000 genomes]
rs56286131	1.00[AMR][1000 genomes]
rs56388016	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56395291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56659864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56741341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57019763	1.00[AMR][1000 genomes]
rs57020473	1.00[AMR][1000 genomes]
rs57147822	0.86[AFR][1000 genomes]
rs57376786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58158782	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58209397	1.00[AMR][1000 genomes]
rs58216554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58508138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58636339	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58866653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113361	1.00[AMR][1000 genomes]
rs59121457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59276993	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59495244	1.00[AMR][1000 genomes]
rs59545985	1.00[AMR][1000 genomes]
rs59706458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59872395	1.00[AMR][1000 genomes]
rs59930267	1.00[AMR][1000 genomes]
rs60689590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61270592	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61375879	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61644103	1.00[AMR][1000 genomes]
rs73829182	1.00[AMR][1000 genomes]
rs73829183	1.00[AMR][1000 genomes]
rs73829189	1.00[AMR][1000 genomes]
rs73829191	1.00[AMR][1000 genomes]
rs73831214	1.00[AMR][1000 genomes]
rs73831218	1.00[AMR][1000 genomes]
rs73831224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831227	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831230	0.83[AFR][1000 genomes]
rs73831232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831233	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831234	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831236	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831238	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831239	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831244	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831245	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831247	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831248	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831250	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831252	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831267	0.88[AFR][1000 genomes]
rs73831271	1.00[AMR][1000 genomes]
rs73831273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831274	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831275	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831277	1.00[AMR][1000 genomes]
rs73831279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831280	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831285	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs984347	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43329200-43344800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:43329200-43346800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:43329400-43346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:43329600-43345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:43330400-43344800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:43330800-43344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
8	chr3:43331000-43340600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:43331000-43344600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:43331200-43338200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:43331200-43344600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:43331400-43338000	Weak transcription	HSMM	muscle
13	chr3:43331400-43338000	Weak transcription	K562	blood
14	chr3:43331400-43344600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:43331400-43344600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:43331400-43358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:43331600-43338200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:43331600-43338200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:43331600-43344600	Weak transcription	Placenta	Placenta
20	chr3:43331600-43344600	Weak transcription	Hela-S3	cervix
21	chr3:43331600-43344800	Weak transcription	Brain Germinal Matrix	brain
22	chr3:43331800-43339600	Enhancers	Liver	Liver
23	chr3:43332400-43361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:43332800-43338000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:43332800-43338000	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:43332800-43338200	Weak transcription	Aorta	Aorta
27	chr3:43332800-43339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:43332800-43339600	Weak transcription	Colonic Mucosa	Colon
29	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:43333000-43338000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:43333000-43338000	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:43333000-43338000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:43333000-43338200	Weak transcription	Osteobl	bone
34	chr3:43333000-43344600	Weak transcription	Fetal Brain Female	brain
35	chr3:43333000-43344600	Weak transcription	NH-A	brain
36	chr3:43333200-43338000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:43333200-43338000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:43333200-43344800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:43333400-43338000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:43333400-43338000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:43333400-43338000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:43333400-43338000	Weak transcription	NHDF-Ad	bronchial
43	chr3:43333400-43338000	Weak transcription	NHLF	lung
44	chr3:43333400-43338200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:43333400-43338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:43333400-43338400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr3:43333400-43339400	Weak transcription	Psoas Muscle	Psoas
48	chr3:43333400-43339600	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:43333400-43339600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:43333400-43339800	Weak transcription	Brain Cingulate Gyrus	brain

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