Variant report

Variant	rs11937407
Chromosome Location	chr4:81413618-81413619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:81412527..81415093-chr4:81416583..81419281,3	K562	blood:
2	chr4:81412527..81415093-chr4:81416891..81419281,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10034974	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10857174	0.87[ASN][1000 genomes]
rs11099253	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11731831	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11940032	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11944437	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11944925	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12510415	0.80[EUR][1000 genomes]
rs12647313	0.92[ASN][1000 genomes]
rs12650570	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13142845	0.95[ASN][1000 genomes]
rs1352076	0.83[EUR][1000 genomes]
rs1385890	0.83[EUR][1000 genomes]
rs1390252	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1390253	0.84[ASN][1000 genomes]
rs1486022	0.82[EUR][1000 genomes]
rs1495489	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1495493	0.95[ASN][1000 genomes]
rs1843563	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872576	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874336	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1905967	0.82[EUR][1000 genomes]
rs1908550	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1971301	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2132267	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132268	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132269	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132271	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2172878	0.99[ASN][1000 genomes]
rs28493682	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2867781	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2903671	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34269363	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693494	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4693495	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4693537	0.81[EUR][1000 genomes]
rs5019005	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55940038	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58593245	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6534967	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535016	0.87[ASN][1000 genomes]
rs6813764	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6823400	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6826104	0.97[ASN][1000 genomes]
rs6827369	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6831485	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6832233	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6835442	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658613	0.82[EUR][1000 genomes]
rs7660815	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666589	0.87[ASN][1000 genomes]
rs7674255	0.81[ASN][1000 genomes]
rs7685226	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7686715	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7693460	0.81[ASN][1000 genomes]
rs7695414	0.86[ASN][1000 genomes]
rs9307720	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs967941	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9993620	0.85[EUR][1000 genomes];0.82[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	nsv1013945	chr4:81410029-81454166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11937407	MRPS18C	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81407600-81421800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:81411000-81416600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:81412400-81416200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:81412400-81416800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr4:81412600-81413800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:81412600-81413800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr4:81412600-81413800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr4:81412600-81414000	Enhancers	Primary T cells from cord blood	blood
9	chr4:81412600-81414000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:81412600-81415600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:81412600-81417200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:81412600-81417200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:81412800-81417400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:81413200-81414800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:81413200-81415000	Enhancers	Fetal Thymus	thymus
16	chr4:81413200-81417200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:81413400-81413800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:81413400-81414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:81413400-81414400	Enhancers	Dnd41	blood
20	chr4:81413400-81414600	Enhancers	Stomach Mucosa	stomach
21	chr4:81413400-81414600	Enhancers	Thymus	Thymus
22	chr4:81413400-81415600	Enhancers	Primary B cells from peripheral blood	blood

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