Variant report

Variant	rs4844497
Chromosome Location	chr1:210033206-210033207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210022253..210024519-chr1:210030671..210033538,2	K562	blood:
2	chr1:210032397..210033903-chr1:210125758..210128296,2	K562	blood:
3	chr1:210032919..210034879-chr1:210043076..210045650,2	K562	blood:
4	chr1:210032986..210034424-chr1:210162287..210163430,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143469	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11579771	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2049997	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357231	0.80[AFR][1000 genomes]
rs35967153	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4844907	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs583814	0.83[AMR][1000 genomes]
rs599663	0.83[AMR][1000 genomes]
rs632305	0.80[AMR][1000 genomes]
rs661755	0.83[AMR][1000 genomes]
rs684083	0.83[AMR][1000 genomes]
rs7548533	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9430019	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4844497	SYT14	cis	Nerve Tibial	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210001800-210034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:210017600-210041200	Weak transcription	Fetal Brain Male	brain
3	chr1:210019000-210033800	Weak transcription	Fetal Heart	heart
4	chr1:210025000-210035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:210026200-210035400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:210026200-210035600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:210027600-210034200	Weak transcription	HMEC	breast
8	chr1:210027600-210034600	Weak transcription	K562	blood
9	chr1:210027600-210036200	Weak transcription	Fetal Lung	lung
10	chr1:210027600-210036800	Weak transcription	HSMM	muscle
11	chr1:210027800-210034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:210027800-210034400	Weak transcription	NH-A	brain
13	chr1:210027800-210034800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:210027800-210035000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:210027800-210035400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:210028000-210033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:210028000-210034000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:210028000-210034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:210028000-210036200	Weak transcription	HSMMtube	muscle
20	chr1:210028200-210033600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:210028200-210034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:210028200-210036400	Weak transcription	Hela-S3	cervix
23	chr1:210028200-210042400	Weak transcription	NHDF-Ad	bronchial
24	chr1:210028400-210034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:210028400-210034600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:210028400-210036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:210028400-210037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:210028400-210039600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:210028800-210033800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:210028800-210034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:210028800-210034200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:210028800-210034200	Weak transcription	Liver	Liver
33	chr1:210028800-210034400	Weak transcription	NHEK	skin
34	chr1:210028800-210036800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:210029000-210033600	Weak transcription	Osteobl	bone
36	chr1:210029200-210033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:210029200-210034200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:210029200-210035800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:210029200-210036200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:210029400-210033800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:210029400-210034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:210029400-210035000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:210029400-210035200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:210029400-210036400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:210029600-210034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:210029600-210035000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:210029600-210035400	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:210029600-210036200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:210029600-210036400	Weak transcription	Ovary	ovary
50	chr1:210029600-210037400	Weak transcription	Lung	lung

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