Variant report

Variant	rs35949806
Chromosome Location	chr1:214451236-214451237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 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	SETDB1	chr1:214450872-214452156	U2OS	brain:	n/a	n/a
3	POLR2A	chr1:214450984-214451253	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:214450111-214452555	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:214451169-214451304	HUVEC	blood vessel:	n/a	n/a
6	KAP1	chr1:214450644-214452021	U2OS	brain:	n/a	n/a
7	KAP1	chr1:214450595-214452487	HEK293	kidney:	n/a	n/a
8	SIN3A	chr1:214451165-214451323	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214450142..214452854-chr1:214468373..214471218,3	K562	blood:
2	chr1:214450853..214454119-chr1:214469233..214472526,4	K562	blood:
3	chr1:214446147..214447766-chr1:214449587..214451818,2	MCF-7	breast:
4	chr1:214446726..214451509-chr1:214452809..214456384,7	MCF-7	breast:

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10465696	1.00[ASN][1000 genomes]
rs10465697	1.00[ASN][1000 genomes]
rs1048791	1.00[ASN][1000 genomes]
rs11120298	1.00[ASN][1000 genomes]
rs11120299	1.00[ASN][1000 genomes]
rs11800749	1.00[ASN][1000 genomes]
rs12073421	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391553	1.00[ASN][1000 genomes]
rs1498364	1.00[ASN][1000 genomes]
rs17022608	1.00[ASN][1000 genomes]
rs2047445	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35874989	0.91[AMR][1000 genomes]
rs3767842	1.00[ASN][1000 genomes]
rs4655243	1.00[ASN][1000 genomes]
rs4655244	1.00[ASN][1000 genomes]
rs4655330	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655332	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4655333	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4655334	1.00[ASN][1000 genomes]
rs4655336	1.00[ASN][1000 genomes]
rs55760458	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59864830	1.00[ASN][1000 genomes]
rs6660335	1.00[ASN][1000 genomes]
rs6687629	1.00[ASN][1000 genomes]
rs6695148	1.00[ASN][1000 genomes]
rs7412913	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867444	1.00[ASN][1000 genomes]
rs867445	1.00[ASN][1000 genomes]
rs867446	1.00[ASN][1000 genomes]
rs904321	1.00[ASN][1000 genomes]
rs9308433	0.83[AMR][1000 genomes]
rs9430131	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9430133	1.00[ASN][1000 genomes]
rs955920	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958304	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:48 , 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	chr1:214445600-214453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:214445600-214453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:214445600-214453400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:214445800-214453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:214445800-214453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:214445800-214453200	Weak transcription	Fetal Lung	lung
11	chr1:214446800-214451800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:214447400-214452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:214448200-214453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:214449000-214453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:214449000-214453200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:214449200-214453200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:214449400-214453200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:214449600-214451800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:214449600-214453200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:214449600-214453400	Weak transcription	K562	blood
21	chr1:214449600-214453600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:214449600-214453600	Weak transcription	Stomach Mucosa	stomach
23	chr1:214450200-214453200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:214450200-214453400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:214450200-214453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:214450400-214451600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:214450400-214452600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:214450600-214451400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:214450600-214451400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:214450600-214451600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr1:214450600-214451800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:214450600-214451800	Weak transcription	Left Ventricle	heart
33	chr1:214450600-214452200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:214450600-214452600	Flanking Active TSS	Fetal Heart	heart
35	chr1:214450600-214453200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:214450600-214453200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:214450600-214453400	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:214450800-214452000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:214450800-214453600	Weak transcription	Right Ventricle	heart
40	chr1:214451000-214451400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:214451000-214452000	Weak transcription	Fetal Brain Male	brain
42	chr1:214451000-214452000	Weak transcription	Placenta	Placenta
43	chr1:214451000-214453400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:214451200-214451400	Enhancers	Osteobl	bone
45	chr1:214451200-214451600	Active TSS	Right Atrium	heart
46	chr1:214451200-214452000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:214451200-214452200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:214451200-214453600	Weak transcription	HSMMtube	muscle

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