Variant report

Variant	rs571439
Chromosome Location	chr1:93581728-93581729
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	chr1:93579998..93581880-chr1:93596682..93599849,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1064797	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12062154	1.00[ASN][1000 genomes]
rs12404947	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405666	0.92[EUR][1000 genomes]
rs12409621	0.92[EUR][1000 genomes]
rs17131703	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131709	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131710	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17386609	0.92[EUR][1000 genomes]
rs2391228	1.00[ASN][1000 genomes]
rs2749734	0.97[EUR][1000 genomes]
rs2785602	0.97[EUR][1000 genomes]
rs2785605	0.97[EUR][1000 genomes]
rs2815419	0.97[EUR][1000 genomes]
rs2815423	0.97[EUR][1000 genomes]
rs2815424	0.98[EUR][1000 genomes]
rs41286823	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41292137	0.95[EUR][1000 genomes]
rs4240964	0.87[AFR][1000 genomes]
rs4240965	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347219	0.92[EUR][1000 genomes]
rs475120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488345	0.98[EUR][1000 genomes]
rs495580	0.98[EUR][1000 genomes]
rs500349	0.98[EUR][1000 genomes]
rs502651	0.87[EUR][1000 genomes]
rs519319	0.98[EUR][1000 genomes]
rs539544	0.97[EUR][1000 genomes]
rs548751	0.98[EUR][1000 genomes]
rs574687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57992499	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs580828	0.97[EUR][1000 genomes]
rs60458375	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61433067	0.98[EUR][1000 genomes]
rs6604042	0.97[EUR][1000 genomes]
rs66501175	0.95[EUR][1000 genomes]
rs6689007	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67002303	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6703169	0.95[EUR][1000 genomes]
rs67262037	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67337461	0.95[EUR][1000 genomes]
rs67395827	0.95[EUR][1000 genomes]
rs67711178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67723709	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67768103	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67992203	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72715364	0.95[EUR][1000 genomes]
rs72715394	0.92[EUR][1000 genomes]
rs72717318	0.91[EUR][1000 genomes]
rs72717334	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717337	0.92[EUR][1000 genomes]
rs72717346	0.94[EUR][1000 genomes]
rs72717352	0.95[EUR][1000 genomes]
rs72717354	0.92[EUR][1000 genomes]
rs72717374	0.92[EUR][1000 genomes]
rs72719120	0.95[EUR][1000 genomes]
rs72955366	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72955388	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72959223	0.95[EUR][1000 genomes]
rs72959288	0.95[EUR][1000 genomes]
rs72959296	0.92[EUR][1000 genomes]
rs797594	0.88[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	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
4	chr1:93548000-93601800	Weak transcription	NHLF	lung
5	chr1:93549000-93582400	Weak transcription	HMEC	breast
6	chr1:93549000-93582800	Weak transcription	NHEK	skin
7	chr1:93563400-93582000	Weak transcription	Esophagus	oesophagus
8	chr1:93564000-93581800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
10	chr1:93568400-93584200	Weak transcription	Fetal Brain Male	brain
11	chr1:93570000-93582200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:93571400-93602200	Weak transcription	Colonic Mucosa	Colon
13	chr1:93572400-93599600	Weak transcription	Spleen	Spleen
14	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:93573600-93586000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:93573800-93582000	Weak transcription	Brain Germinal Matrix	brain
17	chr1:93573800-93609000	Strong transcription	Fetal Thymus	thymus
18	chr1:93574200-93582600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:93574200-93609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:93574600-93584800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:93574600-93585800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:93574600-93609000	Strong transcription	Dnd41	blood
23	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
24	chr1:93575200-93589800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:93575800-93589200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:93576400-93582000	Weak transcription	Hela-S3	cervix
27	chr1:93577200-93592800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:93577200-93597000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:93577400-93582000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:93577400-93582200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:93577600-93585200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr1:93577600-93586600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:93577600-93586800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:93577600-93588800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:93577600-93591400	Weak transcription	Fetal Heart	heart
36	chr1:93577800-93601600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:93578200-93587200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:93578200-93588200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:93578400-93583600	Strong transcription	GM12878-XiMat	blood
40	chr1:93578400-93583800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:93578400-93587400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:93578400-93587600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:93578600-93586600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr1:93578600-93586800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:93578600-93586800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:93578800-93613600	Weak transcription	Psoas Muscle	Psoas
47	chr1:93578800-93620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:93579000-93582000	Weak transcription	Lung	lung
49	chr1:93579400-93582000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:93579600-93586800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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