Variant report

Variant	rs2404719
Chromosome Location	chr1:57028414-57028415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1041604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10789030	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12126955	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1777275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2065555	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404983	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4469733	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7549799	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
2	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
3	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
4	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:57017800-57028600	Weak transcription	Pancreas	Pancrea
6	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:57019200-57030400	Weak transcription	HSMM	muscle
8	chr1:57019400-57030000	Weak transcription	Osteobl	bone
9	chr1:57019400-57030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:57019800-57031400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:57020000-57028800	Weak transcription	Stomach Mucosa	stomach
12	chr1:57020200-57031800	Weak transcription	Placenta	Placenta
13	chr1:57020400-57029000	Weak transcription	Fetal Stomach	stomach
14	chr1:57021400-57028600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:57021400-57028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:57021400-57032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:57022000-57030400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:57022600-57028600	Weak transcription	Spleen	Spleen
19	chr1:57023800-57028600	Enhancers	HepG2	liver
20	chr1:57023800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:57023800-57033000	Enhancers	Brain Hippocampus Middle	brain
22	chr1:57024200-57029000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:57024200-57030000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:57024200-57030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:57024200-57030600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:57024200-57030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:57025400-57028600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:57025600-57029800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:57025600-57030600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:57025600-57040000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:57026000-57028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:57026000-57033200	Enhancers	Fetal Intestine Large	intestine
33	chr1:57026200-57032200	Enhancers	Ovary	ovary
34	chr1:57026200-57033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:57026400-57029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:57026800-57033000	Enhancers	Fetal Intestine Small	intestine
37	chr1:57027000-57034200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:57027400-57028600	Enhancers	NHDF-Ad	bronchial
39	chr1:57027400-57029200	Enhancers	Right Ventricle	heart
40	chr1:57027400-57029400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:57027400-57030800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:57027400-57032000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:57027400-57034200	Enhancers	Brain Anterior Caudate	brain
44	chr1:57027400-57034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:57027600-57028600	Enhancers	A549	lung
46	chr1:57027600-57029800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:57027600-57030000	Enhancers	Psoas Muscle	Psoas
48	chr1:57027600-57030400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:57027600-57030800	Enhancers	Brain Germinal Matrix	brain
50	chr1:57027600-57031800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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