Variant report

Variant	rs4423142
Chromosome Location	chr11:46684677-46684678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10838613	0.80[EUR][1000 genomes]
rs11038919	0.80[EUR][1000 genomes]
rs11038927	0.82[EUR][1000 genomes]
rs11038974	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12292425	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12295266	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12574259	0.93[EUR][1000 genomes]
rs12574918	0.92[EUR][1000 genomes]
rs35623865	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4307676	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4319473	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55657382	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55661562	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55896955	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349329	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57739486	0.92[EUR][1000 genomes]
rs57744667	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60722866	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60932698	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882750	0.80[EUR][1000 genomes]
rs61882756	0.85[EUR][1000 genomes]
rs61882757	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61882758	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61884262	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884264	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884271	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884273	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884274	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884292	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884295	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884301	0.91[EUR][1000 genomes]
rs6485685	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7108770	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7109698	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122039	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125907	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7126316	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126343	0.92[EUR][1000 genomes]
rs7127529	0.80[EUR][1000 genomes]
rs7128092	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73449983	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7481312	0.85[EUR][1000 genomes]
rs7484002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7924401	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7926389	0.93[EUR][1000 genomes]
rs9704782	0.82[AFR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:46656600-46691200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:46664000-46690600	Strong transcription	Primary T cells from cord blood	blood
7	chr11:46664200-46689600	Strong transcription	Dnd41	blood
8	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:46664400-46685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46664400-46691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:46664400-46691400	Strong transcription	Fetal Thymus	thymus
13	chr11:46665600-46691000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:46665800-46685000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:46665800-46688600	Strong transcription	Fetal Muscle Leg	muscle
16	chr11:46665800-46690600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:46666000-46691000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:46667000-46690800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:46667000-46691000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:46667000-46691600	Strong transcription	Thymus	Thymus
23	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
26	chr11:46667400-46686800	Strong transcription	Lung	lung
27	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
28	chr11:46670400-46688200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:46670600-46691000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:46670800-46685000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:46670800-46688200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:46671600-46687800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:46671600-46688600	Strong transcription	Fetal Stomach	stomach
37	chr11:46672000-46684800	Weak transcription	Aorta	Aorta
38	chr11:46672200-46685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:46674000-46689600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:46674600-46687600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:46677200-46691600	Strong transcription	Primary B cells from cord blood	blood
42	chr11:46677400-46695800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr11:46677600-46687200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:46678400-46694000	Weak transcription	Stomach Mucosa	stomach
45	chr11:46679200-46686400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:46679400-46684800	Weak transcription	K562	blood
47	chr11:46679400-46685000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:46679400-46685000	Strong transcription	Left Ventricle	heart
49	chr11:46679400-46685000	Weak transcription	Right Atrium	heart
50	chr11:46679400-46695200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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