Variant report

Variant	rs2048426
Chromosome Location	chr1:226594301-226594302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226496580..226498654-chr1:226591150..226594803,3	K562	blood:
2	chr1:226588622..226590477-chr1:226592586..226594961,2	MCF-7	breast:
3	chr1:226495420..226500064-chr1:226594005..226597004,6	K562	blood:
4	chr1:226311571..226313095-chr1:226593410..226595078,2	K562	blood:
5	chr1:226540281..226542178-chr1:226593012..226594671,2	K562	blood:
6	chr1:226477794..226479841-chr1:226593170..226595597,2	K562	blood:
7	chr1:226592235..226594513-chr1:226597693..226600079,2	K562	blood:
8	chr1:226372716..226374922-chr1:226591836..226595402,4	K562	blood:
9	chr1:226593987..226597015-chr1:226736474..226738189,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270287	Chromatin interaction
ENSG00000183814	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000203685	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1104893	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341333	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341335	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341336	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1397550	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1417765	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805414	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1828445	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1828446	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858548	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858549	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858550	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865220	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865221	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865222	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2027439	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048424	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2136875	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249844	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570368	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570369	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570370	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2666427	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2666428	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695235	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695236	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695237	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2695238	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695239	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695240	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2793376	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793377	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793378	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793380	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793382	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2793654	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793655	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793657	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219090	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3219112	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3219119	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754376	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747657	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9426568	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	chr1:226590600-226594400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226590800-226594400	Enhancers	Spleen	Spleen
3	chr1:226590800-226594800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:226591200-226595000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:226591400-226595200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:226591600-226594600	Transcr. at gene 5' and 3'	K562	blood
7	chr1:226591800-226594400	Enhancers	Lung	lung
8	chr1:226592000-226594400	Enhancers	Esophagus	oesophagus
9	chr1:226592600-226594400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:226592600-226594400	Enhancers	Gastric	stomach
11	chr1:226592600-226594800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr1:226592600-226595400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr1:226592600-226596200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:226592600-226596400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:226592800-226596400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:226593000-226594800	Flanking Active TSS	Dnd41	blood
17	chr1:226593000-226595000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:226593000-226595200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:226593000-226596400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:226593200-226594600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:226593200-226594800	Flanking Active TSS	Fetal Brain Female	brain
22	chr1:226593200-226595000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:226593200-226595200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr1:226593200-226595200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:226593400-226594400	Enhancers	Brain Substantia Nigra	brain
26	chr1:226593400-226595000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:226593400-226595000	Flanking Active TSS	Hela-S3	cervix
28	chr1:226593600-226594800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:226593600-226595200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:226593600-226596000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:226593600-226596200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:226593800-226594400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:226593800-226594600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:226593800-226594600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:226593800-226594600	Flanking Active TSS	Fetal Heart	heart
36	chr1:226593800-226594600	Flanking Active TSS	A549	lung
37	chr1:226593800-226594600	Flanking Active TSS	HepG2	liver
38	chr1:226593800-226594800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:226593800-226594800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:226593800-226595000	Flanking Active TSS	Liver	Liver
41	chr1:226593800-226595000	Flanking Active TSS	HMEC	breast
42	chr1:226593800-226595200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:226593800-226595400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr1:226594000-226594400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:226594000-226594400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:226594000-226594400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:226594000-226594400	Active TSS	HSMMtube	muscle
48	chr1:226594000-226594600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:226594000-226594600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:226594000-226594600	Flanking Active TSS	Left Ventricle	heart

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