Variant report

Variant	rs73090351
Chromosome Location	chr1:214450426-214450427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:214449888-214452598	K562	blood:	n/a	n/a
2	POLR2A	chr1:214449958-214451002	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:214450313-214450759	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:214449922-214450860	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:214450111-214452555	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:214450191-214450881	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214450142..214452854-chr1:214468373..214471218,3	K562	blood:
2	chr1:214446147..214447766-chr1:214449587..214451818,2	MCF-7	breast:
3	chr1:214450288..214450873-chr8:11141803..11142312,2	HCT-116	colon:
4	chr1:214446726..214451509-chr1:214452809..214456384,7	MCF-7	breast:
5	chr1:214391737..214394126-chr1:214448513..214450704,2	MCF-7	breast:

No data

Variant related genes	Relation type
SMYD2	TF binding region
ENSG00000104643	Chromatin interaction
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1353719	1.00[EUR][1000 genomes]
rs17022459	1.00[EUR][1000 genomes]
rs34697741	1.00[EUR][1000 genomes]
rs6689485	1.00[EUR][1000 genomes]
rs73090347	1.00[EUR][1000 genomes]
rs73090352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517275	1.00[EUR][1000 genomes]
rs7526980	1.00[EUR][1000 genomes]

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214437400-214453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:214445000-214453200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:214445200-214453000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:214445200-214453200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:214445600-214450600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:214445600-214453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:214445600-214453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:214445600-214453400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:214445800-214453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:214445800-214453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:214445800-214453200	Weak transcription	Fetal Lung	lung
12	chr1:214446800-214451800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:214447400-214452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:214448200-214453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:214449000-214453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:214449000-214453200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:214449200-214453200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:214449400-214453200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:214449600-214451800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:214449600-214453200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:214449600-214453400	Weak transcription	K562	blood
22	chr1:214449600-214453600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:214449600-214453600	Weak transcription	Stomach Mucosa	stomach
24	chr1:214449800-214450600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:214449800-214450600	Enhancers	Fetal Heart	heart
26	chr1:214449800-214450600	Enhancers	Left Ventricle	heart
27	chr1:214449800-214450600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:214449800-214450800	Enhancers	Right Ventricle	heart
29	chr1:214450000-214451000	Enhancers	Placenta	Placenta
30	chr1:214450200-214453200	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:214450200-214453400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:214450200-214453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:214450400-214450600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:214450400-214450600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:214450400-214450600	Enhancers	Colon Smooth Muscle	Colon
36	chr1:214450400-214451000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:214450400-214451600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:214450400-214452600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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