Variant report

Variant	rs2793382
Chromosome Location	chr1:226583417-226583418
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	chr1:226579508..226581012-chr1:226583243..226585093,2	K562	blood:

Variant related genes	Relation type
ENSG00000143799	Chromatin interaction

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

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

rs_ID	r²[population]
rs1104893	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1341333	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1341335	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1341336	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1397550	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1417765	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805414	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1828445	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1828446	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1858548	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1858549	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1858550	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1865220	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1865221	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1865222	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2027439	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048424	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048426	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2136875	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2249844	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2377313	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2570368	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2570369	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2570370	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2666427	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2666428	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2695235	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2695236	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2695237	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2695238	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2695239	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2695240	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2793376	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2793377	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2793378	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2793380	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2793654	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2793655	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2793657	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3219090	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219110	0.81[AFR][1000 genomes]
rs3219112	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3219119	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754376	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747657	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9426568	0.89[AMR][1000 genomes];0.84[ASN][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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:226543000-226590800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:226543000-226590800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:226543000-226591400	Strong transcription	Primary T cells from cord blood	blood
4	chr1:226543200-226588600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:226543200-226588600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:226543400-226590200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:226543400-226591400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:226543600-226590400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:226543600-226591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:226544200-226590400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:226544600-226591800	Strong transcription	Dnd41	blood
12	chr1:226544800-226590800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:226545000-226590800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:226545400-226584000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:226545400-226590600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:226545600-226588200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:226546200-226590600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:226546600-226589400	Strong transcription	K562	blood
19	chr1:226557200-226590600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:226557400-226590200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:226558400-226590200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:226559400-226583800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr1:226559800-226588800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:226559800-226589200	Strong transcription	GM12878-XiMat	blood
25	chr1:226560400-226584000	Strong transcription	Primary B cells from cord blood	blood
26	chr1:226563000-226591400	Weak transcription	Stomach Mucosa	stomach
27	chr1:226564200-226590600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:226566600-226583600	Strong transcription	HepG2	liver
29	chr1:226568800-226591400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:226572400-226585400	Weak transcription	Right Atrium	heart
31	chr1:226574200-226584600	Weak transcription	Psoas Muscle	Psoas
32	chr1:226576800-226587000	Weak transcription	Fetal Brain Male	brain
33	chr1:226577400-226584400	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:226577600-226585000	Weak transcription	HSMMtube	muscle
35	chr1:226578200-226588400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:226578600-226586600	Weak transcription	NH-A	brain
37	chr1:226578600-226592200	Weak transcription	Small Intestine	intestine
38	chr1:226579000-226586400	Weak transcription	Colonic Mucosa	Colon
39	chr1:226579000-226587200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:226579200-226585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:226579200-226587200	Weak transcription	HMEC	breast
42	chr1:226579600-226585200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:226579600-226587200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:226579600-226588200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:226579800-226587000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:226579800-226587200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:226579800-226587200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:226579800-226588200	Weak transcription	NHDF-Ad	bronchial
49	chr1:226579800-226588400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:226580000-226584800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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