Variant report

Variant	rs11715609
Chromosome Location	chr3:43346566-43346567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43328259..43329793-chr3:43345734..43348023,2	K562	blood:
2	chr3:43346468..43349157-chr3:43351424..43353068,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11130000	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11706123	0.81[EUR][1000 genomes]
rs11708097	0.81[EUR][1000 genomes]
rs11708173	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11709165	0.81[EUR][1000 genomes]
rs11709517	0.87[EUR][1000 genomes]
rs11710253	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11710955	0.81[EUR][1000 genomes]
rs11711651	0.93[EUR][1000 genomes]
rs11711758	0.82[EUR][1000 genomes]
rs11712075	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11712894	0.81[EUR][1000 genomes]
rs11719258	0.96[EUR][1000 genomes]
rs13061553	0.81[EUR][1000 genomes]
rs13079636	0.87[EUR][1000 genomes]
rs13082581	0.99[EUR][1000 genomes]
rs1482650	0.81[EUR][1000 genomes]
rs1506615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1506616	0.82[EUR][1000 genomes]
rs2888312	0.81[EUR][1000 genomes]
rs34031620	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35015014	0.81[EUR][1000 genomes]
rs35323779	0.80[EUR][1000 genomes]
rs35690908	0.95[EUR][1000 genomes]
rs6441775	0.81[EUR][1000 genomes]
rs66498110	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67032102	0.81[EUR][1000 genomes]
rs6767983	0.80[EUR][1000 genomes]
rs6781290	0.81[EUR][1000 genomes]
rs73072960	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73075063	0.96[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:119 , 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	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
3	chr3:43331400-43358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:43332400-43361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:43335400-43351000	Weak transcription	Fetal Stomach	stomach
7	chr3:43337000-43354400	Weak transcription	A549	lung
8	chr3:43337400-43358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:43339600-43356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:43340000-43358600	Weak transcription	Colonic Mucosa	Colon
11	chr3:43340200-43347000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:43340200-43359000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:43340200-43361200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:43340400-43358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:43340400-43358200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:43340600-43349200	Weak transcription	Brain Substantia Nigra	brain
17	chr3:43340600-43349800	Weak transcription	Aorta	Aorta
18	chr3:43340600-43352400	Weak transcription	Right Ventricle	heart
19	chr3:43340600-43352400	Weak transcription	Small Intestine	intestine
20	chr3:43340600-43358600	Weak transcription	Brain Angular Gyrus	brain
21	chr3:43340600-43358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:43340600-43358800	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:43340600-43359200	Weak transcription	Gastric	stomach
24	chr3:43340600-43365600	Weak transcription	Esophagus	oesophagus
25	chr3:43341000-43359000	Weak transcription	Spleen	Spleen
26	chr3:43341200-43348200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:43342000-43359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:43342200-43354600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:43342600-43355800	Strong transcription	HUVEC	blood vessel
30	chr3:43343200-43356400	Weak transcription	Fetal Intestine Small	intestine
31	chr3:43343400-43348000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:43343800-43357200	Strong transcription	Fetal Thymus	thymus
33	chr3:43344000-43347400	Strong transcription	Fetal Intestine Large	intestine
34	chr3:43344000-43355400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr3:43344200-43358200	Weak transcription	Psoas Muscle	Psoas
36	chr3:43344400-43346800	Strong transcription	Primary B cells from cord blood	blood
37	chr3:43344400-43347800	Strong transcription	Dnd41	blood
38	chr3:43344400-43348400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:43344600-43346800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:43344600-43346800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:43344600-43346800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr3:43344600-43346800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:43344600-43346800	Strong transcription	Adipose Nuclei	Adipose
44	chr3:43344600-43346800	Strong transcription	Liver	Liver
45	chr3:43344600-43346800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr3:43344600-43346800	Strong transcription	HSMM	muscle
47	chr3:43344600-43347000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:43344600-43347000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:43344600-43347000	Strong transcription	Placenta	Placenta
50	chr3:43344600-43347200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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