Variant report

Variant	rs2840966
Chromosome Location	chr1:225816988-225816989
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	chr1:225812888..225814596-chr1:225815974..225818841,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1075364	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2769689	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2840959	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508817	0.85[EUR][1000 genomes]
rs6701032	0.83[EUR][1000 genomes]
rs7514094	0.81[EUR][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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
3	chr1:225806200-225817600	Weak transcription	Fetal Brain Female	brain
4	chr1:225807200-225820400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:225808200-225818400	Weak transcription	Fetal Brain Male	brain
6	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:225810000-225825400	Weak transcription	NHEK	skin
8	chr1:225812800-225824400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:225812800-225825000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:225813400-225824800	Weak transcription	Lung	lung
11	chr1:225813600-225837600	Weak transcription	HUVEC	blood vessel
12	chr1:225813800-225817200	Enhancers	Psoas Muscle	Psoas
13	chr1:225813800-225838600	Weak transcription	HMEC	breast
14	chr1:225814200-225818800	Weak transcription	Gastric	stomach
15	chr1:225814200-225819600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:225814400-225820400	Weak transcription	HSMM	muscle
17	chr1:225814400-225825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:225814400-225825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:225814600-225818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:225814600-225818800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:225814600-225835800	Weak transcription	HSMMtube	muscle
22	chr1:225815400-225823200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:225815400-225823800	Weak transcription	NH-A	brain
24	chr1:225815600-225817600	Weak transcription	NHDF-Ad	bronchial
25	chr1:225815600-225819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:225815600-225822800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:225815600-225825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:225815600-225830000	Weak transcription	Pancreas	Pancrea
29	chr1:225815800-225817000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:225815800-225817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:225815800-225818000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:225815800-225818600	Weak transcription	Fetal Lung	lung
33	chr1:225815800-225818800	Weak transcription	Left Ventricle	heart
34	chr1:225815800-225819800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:225815800-225820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:225815800-225823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:225815800-225823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:225815800-225823400	Weak transcription	Stomach Mucosa	stomach
39	chr1:225815800-225825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:225815800-225839000	Weak transcription	Fetal Intestine Large	intestine
41	chr1:225816000-225818000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:225816000-225818600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:225816000-225818800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:225816000-225819000	Weak transcription	Ovary	ovary
45	chr1:225816000-225825600	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:225816000-225825800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:225816000-225825800	Weak transcription	HepG2	liver
48	chr1:225816000-225830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:225816000-225832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:225816000-225834200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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