Variant report

Variant	rs16941671
Chromosome Location	chr17:45295503-45295504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11570481	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11570495	0.88[EUR][1000 genomes]
rs11570548	0.88[EUR][1000 genomes]
rs16941628	0.80[CHB][hapmap]
rs16941635	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1986817	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55706273	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55887846	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56287938	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59349147	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16941671	MYL4	cis	lung	GTEx
rs16941671	MYL4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr17:45288400-45302000	Weak transcription	HSMM	muscle
3	chr17:45288600-45296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:45290800-45296200	Weak transcription	Right Atrium	heart
5	chr17:45291800-45295800	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:45292800-45297600	Weak transcription	Fetal Brain Male	brain
7	chr17:45293000-45296200	Enhancers	Fetal Heart	heart
8	chr17:45293400-45299000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr17:45293600-45298600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:45293600-45298600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr17:45293600-45298600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr17:45293600-45298800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr17:45293600-45299000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr17:45294000-45298800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:45294000-45299000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:45294000-45299000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:45294000-45299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr17:45294200-45298000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:45294200-45298600	Enhancers	Primary T cells from cord blood	blood
20	chr17:45294200-45299600	Enhancers	Primary B cells from peripheral blood	blood
21	chr17:45294400-45296000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:45294400-45296600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:45294600-45296200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr17:45294600-45297800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr17:45295000-45295800	Weak transcription	Primary B cells from cord blood	blood
26	chr17:45295000-45296200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr17:45295000-45298000	Weak transcription	HSMMtube	muscle
28	chr17:45295200-45296200	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:45295400-45295600	Enhancers	K562	blood
30	chr17:45295400-45296400	Weak transcription	Spleen	Spleen
31	chr17:45295400-45297400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:45295400-45299200	Enhancers	Primary hematopoietic stem cells	blood

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