Variant report

Variant	rs2793657
Chromosome Location	chr1:226590972-226590973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226570760..226578039-chr1:226587444..226591845,7	K562	blood:
2	chr1:226567771..226569428-chr1:226590469..226593276,2	K562	blood:
3	chr1:226589383..226591665-chr1:226794295..226796050,2	K562	blood:
4	chr1:226562550..226565404-chr1:226590775..226592475,2	K562	blood:
5	chr1:226590355..226593219-chr1:226593428..226595766,4	MCF-7	breast:
6	chr1:226549481..226552453-chr1:226589185..226592308,3	K562	blood:

Variant related genes	Relation type
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1104893	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341333	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341335	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341336	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1397550	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1417765	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805414	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1828445	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1828446	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858548	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858549	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858550	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865220	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865221	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865222	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2027439	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048424	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048426	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136875	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249844	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2377313	0.80[AMR][1000 genomes]
rs2570368	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570369	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570370	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2666427	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2666428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695235	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695236	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695237	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2695238	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695239	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695240	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2793376	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793377	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793378	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793382	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2793654	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793655	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3219090	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3219112	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3219119	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754376	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747657	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9426568	0.93[AMR][1000 genomes];0.91[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	chr1:226543000-226591400	Strong transcription	Primary T cells from cord blood	blood
2	chr1:226543400-226591400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226543600-226591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:226544600-226591800	Strong transcription	Dnd41	blood
5	chr1:226563000-226591400	Weak transcription	Stomach Mucosa	stomach
6	chr1:226568800-226591400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:226578600-226592200	Weak transcription	Small Intestine	intestine
8	chr1:226581800-226591600	Strong transcription	Fetal Intestine Small	intestine
9	chr1:226587000-226591200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:226587000-226592000	Strong transcription	NHEK	skin
11	chr1:226587600-226591400	Weak transcription	Fetal Brain Male	brain
12	chr1:226588000-226591000	Genic enhancers	Brain Germinal Matrix	brain
13	chr1:226588800-226591200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:226588800-226592000	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr1:226589000-226591200	Genic enhancers	Stomach Smooth Muscle	stomach
16	chr1:226589200-226592200	Weak transcription	HMEC	breast
17	chr1:226589400-226591400	Weak transcription	NHDF-Ad	bronchial
18	chr1:226589600-226591000	Weak transcription	Fetal Kidney	kidney
19	chr1:226589600-226591200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:226589600-226591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:226589600-226593200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:226589800-226591000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:226589800-226591200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:226589800-226594000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:226589800-226594000	Enhancers	Right Atrium	heart
26	chr1:226590000-226591000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:226590000-226591000	Weak transcription	A549	lung
28	chr1:226590000-226591200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:226590000-226591200	Strong transcription	K562	blood
30	chr1:226590000-226591400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:226590000-226591400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:226590000-226591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:226590000-226591600	Weak transcription	Osteobl	bone
34	chr1:226590000-226592000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:226590000-226592200	Weak transcription	Colonic Mucosa	Colon
36	chr1:226590000-226592200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:226590000-226593000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:226590000-226593800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:226590000-226593800	Enhancers	Right Ventricle	heart
40	chr1:226590000-226594000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:226590200-226591000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:226590200-226591200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:226590200-226591200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:226590200-226591400	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr1:226590200-226591600	Enhancers	Colon Smooth Muscle	Colon
46	chr1:226590200-226591800	Weak transcription	Gastric	stomach
47	chr1:226590200-226591800	Weak transcription	HUVEC	blood vessel
48	chr1:226590200-226592400	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr1:226590200-226593200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:226590200-226594000	Enhancers	Placenta	Placenta

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