Variant report

Variant	rs7542091
Chromosome Location	chr1:210031948-210031949
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210023266..210025244-chr1:210030521..210032417,2	MCF-7	breast:
2	chr1:210022253..210024519-chr1:210030671..210033538,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863793	0.98[ASN][1000 genomes]
rs1108628	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11119357	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12022221	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1883331	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1963685	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1964106	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2049999	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142907	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2357231	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34638782	0.86[EUR][1000 genomes]
rs4133950	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4308980	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7537070	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7537294	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7540534	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7548545	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7550330	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7550733	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9429825	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9429826	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[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
rs7542091	SYT14	cis	Nerve Tibial	GTEx

Chromatin state (count:91 , 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	chr1:210002400-210032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210017600-210041200	Weak transcription	Fetal Brain Male	brain
4	chr1:210018000-210032800	Weak transcription	Small Intestine	intestine
5	chr1:210019000-210033800	Weak transcription	Fetal Heart	heart
6	chr1:210025000-210035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:210026200-210033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:210026200-210035400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:210026200-210035600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:210027600-210032200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:210027600-210032400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:210027600-210034200	Weak transcription	HMEC	breast
13	chr1:210027600-210034600	Weak transcription	K562	blood
14	chr1:210027600-210036200	Weak transcription	Fetal Lung	lung
15	chr1:210027600-210036800	Weak transcription	HSMM	muscle
16	chr1:210027800-210032800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:210027800-210034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:210027800-210034400	Weak transcription	NH-A	brain
19	chr1:210027800-210034800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:210027800-210035000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:210027800-210035400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:210028000-210032200	Weak transcription	GM12878-XiMat	blood
23	chr1:210028000-210033000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:210028000-210033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:210028000-210033000	Weak transcription	HUVEC	blood vessel
26	chr1:210028000-210033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:210028000-210033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:210028000-210034000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:210028000-210034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:210028000-210036200	Weak transcription	HSMMtube	muscle
31	chr1:210028200-210032000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:210028200-210032000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:210028200-210032600	Weak transcription	Pancreas	Pancrea
34	chr1:210028200-210033200	Weak transcription	NHLF	lung
35	chr1:210028200-210033600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:210028200-210034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:210028200-210036400	Weak transcription	Hela-S3	cervix
38	chr1:210028200-210042400	Weak transcription	NHDF-Ad	bronchial
39	chr1:210028400-210034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:210028400-210034600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:210028400-210036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:210028400-210037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:210028400-210039600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:210028600-210032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:210028600-210032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:210028800-210033800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:210028800-210034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:210028800-210034200	Weak transcription	Adipose Nuclei	Adipose
49	chr1:210028800-210034200	Weak transcription	Liver	Liver
50	chr1:210028800-210034400	Weak transcription	NHEK	skin

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