Variant report

Variant	rs41286823
Chromosome Location	chr1:93585368-93585369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1064797	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12404947	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12405666	0.94[EUR][1000 genomes]
rs12409621	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17131703	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17131705	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17131709	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17131710	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17386609	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2749734	0.95[EUR][1000 genomes]
rs2785602	0.95[EUR][1000 genomes]
rs2785605	0.95[EUR][1000 genomes]
rs2815419	0.95[EUR][1000 genomes]
rs2815423	0.95[EUR][1000 genomes]
rs2815424	0.97[EUR][1000 genomes]
rs41292137	0.97[EUR][1000 genomes]
rs4240965	0.87[EUR][1000 genomes]
rs4347219	0.94[EUR][1000 genomes]
rs475120	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs488345	0.97[EUR][1000 genomes]
rs495580	0.97[EUR][1000 genomes]
rs500349	0.97[EUR][1000 genomes]
rs502651	0.86[EUR][1000 genomes]
rs519319	0.97[EUR][1000 genomes]
rs539544	0.95[EUR][1000 genomes]
rs548751	0.97[EUR][1000 genomes]
rs571439	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs574687	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57992499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs580828	0.95[EUR][1000 genomes]
rs60458375	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61433067	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604042	0.98[EUR][1000 genomes]
rs66501175	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6689007	0.97[EUR][1000 genomes]
rs67002303	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6703169	0.94[EUR][1000 genomes]
rs67262037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67337461	0.97[EUR][1000 genomes]
rs67395827	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67711178	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67723709	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67768103	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67992203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715364	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72715394	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72717318	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72717334	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717337	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72717346	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717352	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717354	0.94[EUR][1000 genomes]
rs72717374	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72719120	0.97[EUR][1000 genomes]
rs72955366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955388	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959223	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72959288	0.97[EUR][1000 genomes]
rs72959296	0.94[EUR][1000 genomes]
rs797594	0.87[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
2	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
3	chr1:93548000-93601800	Weak transcription	NHLF	lung
4	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
5	chr1:93571400-93602200	Weak transcription	Colonic Mucosa	Colon
6	chr1:93572400-93599600	Weak transcription	Spleen	Spleen
7	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:93573600-93586000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:93573800-93609000	Strong transcription	Fetal Thymus	thymus
10	chr1:93574200-93609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:93574600-93585800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:93574600-93609000	Strong transcription	Dnd41	blood
13	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
14	chr1:93575200-93589800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:93575800-93589200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:93577200-93592800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:93577200-93597000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:93577600-93586600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:93577600-93586800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:93577600-93588800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:93577600-93591400	Weak transcription	Fetal Heart	heart
22	chr1:93577800-93601600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:93578200-93587200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:93578200-93588200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:93578400-93587400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:93578400-93587600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:93578600-93586600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:93578600-93586800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:93578600-93586800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:93578800-93613600	Weak transcription	Psoas Muscle	Psoas
31	chr1:93578800-93620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:93579600-93586800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:93579600-93587200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:93579600-93595400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:93579800-93586600	Strong transcription	Liver	Liver
36	chr1:93579800-93587200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:93579800-93588000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:93580000-93585800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:93580000-93586400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:93580000-93587600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:93580000-93587600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:93580000-93588200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:93580000-93624000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:93580200-93586600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:93580400-93585600	Strong transcription	Fetal Lung	lung
47	chr1:93580400-93585800	Strong transcription	Primary T cells from cord blood	blood
48	chr1:93580400-93586400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr1:93580400-93586600	Strong transcription	HepG2	liver
50	chr1:93580400-93586800	Strong transcription	Primary B cells from peripheral blood	blood

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