Variant report

Variant	rs11800228
Chromosome Location	chr1:94177189-94177190
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	chr1:94146546..94148146-chr1:94177144..94178923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12091446	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57108173	0.83[AMR][1000 genomes]
rs57729501	0.83[AMR][1000 genomes]
rs58491053	0.83[AMR][1000 genomes]
rs60890703	0.83[AMR][1000 genomes]
rs72965425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965494	0.83[AMR][1000 genomes]
rs72965496	0.83[AMR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94169000-94181400	Weak transcription	Psoas Muscle	Psoas
2	chr1:94169600-94181000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:94170000-94178800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:94172000-94181000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:94172400-94186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94173600-94179400	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:94174200-94177200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:94174200-94180400	Enhancers	Placenta	Placenta
9	chr1:94174400-94178000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:94174800-94178000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:94174800-94179000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:94174800-94182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:94175000-94177200	Enhancers	GM12878-XiMat	blood
14	chr1:94175000-94178200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:94175000-94178800	Weak transcription	NHDF-Ad	bronchial
16	chr1:94175000-94180000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:94175000-94182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:94175000-94187600	Weak transcription	Gastric	stomach
19	chr1:94175200-94177600	Weak transcription	Primary T cells from cord blood	blood
20	chr1:94175200-94177800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:94175200-94177800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:94175200-94177800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:94175200-94178000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:94175200-94178000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:94175200-94178200	Weak transcription	Small Intestine	intestine
26	chr1:94175200-94178800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:94175200-94180000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:94175200-94181000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:94175200-94181000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:94175200-94181000	Weak transcription	HSMM	muscle
31	chr1:94175400-94180400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:94175800-94180600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:94175800-94180600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:94175800-94181000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:94176000-94178000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:94176000-94178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:94176000-94181400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:94176200-94178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:94176200-94178600	Weak transcription	Stomach Mucosa	stomach
40	chr1:94176200-94181000	Weak transcription	Pancreas	Pancrea
41	chr1:94176600-94180800	Weak transcription	HSMMtube	muscle
42	chr1:94176600-94181000	Weak transcription	Lung	lung
43	chr1:94176800-94177200	Weak transcription	Fetal Thymus	thymus
44	chr1:94176800-94178400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:94176800-94180600	Weak transcription	Fetal Lung	lung
46	chr1:94176800-94186600	Weak transcription	Right Ventricle	heart
47	chr1:94177000-94178000	Weak transcription	Fetal Intestine Small	intestine
48	chr1:94177000-94178400	Weak transcription	Spleen	Spleen
49	chr1:94177000-94179800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:94177000-94180000	Weak transcription	HepG2	liver

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