Variant report

Variant	rs2340930
Chromosome Location	chr14:55586286-55586287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:55586140-55586290	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55583659..55586455-chr14:55591189..55593234,2	K562	blood:
2	chr14:55577226..55578815-chr14:55585126..55587716,2	K562	blood:

Variant related genes	Relation type
LGALS3	TF binding region

rs_ID	r²[population]
rs10134983	0.81[ASN][1000 genomes]
rs10144326	0.81[ASN][1000 genomes]
rs11845848	0.81[ASN][1000 genomes]
rs2094103	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2274271	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7158989	0.94[EUR][1000 genomes]
rs8009244	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8012397	0.82[EUR][1000 genomes]

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55575000-55589600	Weak transcription	Small Intestine	intestine
3	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
4	chr14:55578400-55588000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55580200-55589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:55582200-55588200	Enhancers	Right Atrium	heart
7	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:55582400-55589000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55583600-55587200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr14:55583600-55588800	Weak transcription	Fetal Kidney	kidney
11	chr14:55583800-55586600	Weak transcription	Spleen	Spleen
12	chr14:55583800-55587400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:55583800-55589200	Weak transcription	Lung	lung
14	chr14:55583800-55589200	Weak transcription	Pancreas	Pancrea
15	chr14:55583800-55591600	Weak transcription	Gastric	stomach
16	chr14:55584000-55587600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr14:55584400-55586600	Enhancers	Adipose Nuclei	Adipose
18	chr14:55584400-55587000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:55584400-55589800	Enhancers	Colonic Mucosa	Colon
20	chr14:55584600-55586800	Enhancers	Ovary	ovary
21	chr14:55584600-55587200	Enhancers	Fetal Heart	heart
22	chr14:55584600-55592600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:55585000-55587000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:55585000-55587200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr14:55585000-55589000	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:55585000-55589400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:55585000-55591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:55585200-55586400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:55585200-55586800	Weak transcription	Placenta	Placenta
30	chr14:55585200-55587200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr14:55585200-55588800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:55585200-55589000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:55585200-55589200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:55585200-55589200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:55585400-55586600	Weak transcription	Primary B cells from cord blood	blood
36	chr14:55585400-55586600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:55585400-55586600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:55585400-55588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:55585400-55588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:55585400-55589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:55585400-55589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:55585400-55589000	Weak transcription	NH-A	brain
43	chr14:55585400-55589000	Weak transcription	NHDF-Ad	bronchial
44	chr14:55585400-55589200	Weak transcription	HMEC	breast
45	chr14:55585400-55589200	Weak transcription	HSMM	muscle
46	chr14:55585600-55586600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:55585600-55586600	Weak transcription	Hela-S3	cervix
48	chr14:55585600-55587000	Weak transcription	Stomach Mucosa	stomach
49	chr14:55585600-55587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:55585600-55587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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