Variant report

Variant	rs17075521
Chromosome Location	chr3:43345107-43345108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1034513	1.00[EUR][1000 genomes]
rs10514709	1.00[EUR][1000 genomes]
rs12486205	1.00[EUR][1000 genomes]
rs1318453	1.00[EUR][1000 genomes]
rs17075340	1.00[EUR][1000 genomes]
rs17075375	1.00[EUR][1000 genomes]
rs17075379	1.00[EUR][1000 genomes]
rs17075391	1.00[EUR][1000 genomes]
rs17075395	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17075409	1.00[EUR][1000 genomes]
rs17075517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1878721	1.00[EUR][1000 genomes]
rs2372367	1.00[EUR][1000 genomes]
rs4580522	1.00[EUR][1000 genomes]
rs6798292	1.00[EUR][1000 genomes]
rs6800990	1.00[EUR][1000 genomes]
rs7647227	1.00[EUR][1000 genomes]
rs938918	1.00[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43329200-43346800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:43329400-43346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
4	chr3:43331400-43358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:43332400-43361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:43335400-43351000	Weak transcription	Fetal Stomach	stomach
8	chr3:43337000-43354400	Weak transcription	A549	lung
9	chr3:43337400-43358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:43338800-43345600	Weak transcription	Stomach Mucosa	stomach
11	chr3:43339600-43356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:43340000-43358600	Weak transcription	Colonic Mucosa	Colon
13	chr3:43340200-43347000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:43340200-43359000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:43340200-43361200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:43340400-43358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:43340400-43358200	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:43340600-43345200	Weak transcription	Pancreas	Pancrea
19	chr3:43340600-43346000	Weak transcription	Fetal Heart	heart
20	chr3:43340600-43349200	Weak transcription	Brain Substantia Nigra	brain
21	chr3:43340600-43349800	Weak transcription	Aorta	Aorta
22	chr3:43340600-43352400	Weak transcription	Right Ventricle	heart
23	chr3:43340600-43352400	Weak transcription	Small Intestine	intestine
24	chr3:43340600-43358600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:43340600-43358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:43340600-43358800	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:43340600-43359200	Weak transcription	Gastric	stomach
28	chr3:43340600-43365600	Weak transcription	Esophagus	oesophagus
29	chr3:43341000-43359000	Weak transcription	Spleen	Spleen
30	chr3:43341200-43348200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr3:43341400-43345800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr3:43341600-43346400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:43342000-43359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:43342200-43354600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:43342600-43355800	Strong transcription	HUVEC	blood vessel
36	chr3:43343200-43346200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:43343200-43346400	Strong transcription	NHEK	skin
38	chr3:43343200-43356400	Weak transcription	Fetal Intestine Small	intestine
39	chr3:43343400-43348000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:43343800-43346200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:43343800-43357200	Strong transcription	Fetal Thymus	thymus
42	chr3:43344000-43345400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:43344000-43347400	Strong transcription	Fetal Intestine Large	intestine
44	chr3:43344000-43355400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:43344200-43358200	Weak transcription	Psoas Muscle	Psoas
46	chr3:43344400-43345200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:43344400-43346400	Strong transcription	HepG2	liver
48	chr3:43344400-43346800	Strong transcription	Primary B cells from cord blood	blood
49	chr3:43344400-43347800	Strong transcription	Dnd41	blood
50	chr3:43344400-43348400	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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