Variant report

Variant	rs211150
Chromosome Location	chr11:17983271-17983272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17981657..17983543-chr11:17986133..17988668,3	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10766446	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024435	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024446	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11600873	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11603299	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11605018	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12292490	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12420936	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1401163	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1401164	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1401165	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1468291	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1518521	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1518522	0.81[EUR][1000 genomes]
rs17793542	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs188397	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041244	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2097816	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211095	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs211096	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211097	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211098	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211115	0.80[AFR][1000 genomes]
rs211140	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211141	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211144	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs211146	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs211148	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211149	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211151	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237908	0.83[EUR][1000 genomes]
rs2237909	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237911	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237913	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237914	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237915	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237916	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237917	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237920	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283233	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283235	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299625	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299628	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2670764	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670765	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379388	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4141243	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4393297	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs511604	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59573120	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs616099	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66813449	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72862028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs728639	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739916	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7927135	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs887242	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs916975	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9787863	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs211150	SERGEF	Cis_1M	lymphoblastoid	RTeQTL
rs211150	SERGEF	cis	Muscle Skeletal	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
2	chr11:17943800-17992800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:17945400-18010000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:17957200-17994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:17959200-18007600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:17961000-18016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:17965400-17994400	Weak transcription	NH-A	brain
10	chr11:17966000-17992600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:17966400-17983400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:17966400-17984400	Strong transcription	Primary T cells from cord blood	blood
13	chr11:17966400-18014400	Weak transcription	Fetal Thymus	thymus
14	chr11:17966600-17994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:17966800-17984800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:17967400-17984400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:17967600-17984200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:17967600-17984400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr11:17968200-17986200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:17968600-17984400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:17968600-18007000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:17969200-17984400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:17971200-18026000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:17971400-17984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:17971600-17994200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:17972800-17984200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:17972800-17994200	Weak transcription	NHEK	skin
28	chr11:17973800-18008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:17974000-17984400	Strong transcription	Dnd41	blood
30	chr11:17974200-17984000	Strong transcription	Adipose Nuclei	Adipose
31	chr11:17974200-17985800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:17974200-18007000	Weak transcription	Fetal Lung	lung
33	chr11:17974400-18001200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:17974400-18007200	Weak transcription	Stomach Mucosa	stomach
35	chr11:17974400-18007400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:17974600-17984400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:17974600-18008600	Weak transcription	K562	blood
38	chr11:17975000-18020200	Weak transcription	A549	lung
39	chr11:17975400-17984400	Strong transcription	HepG2	liver
40	chr11:17975400-17994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:17976200-17984000	Strong transcription	Primary B cells from cord blood	blood
42	chr11:17976200-17994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:17976600-17994200	Weak transcription	HSMM	muscle
44	chr11:17976600-17994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:17976600-17994400	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:17976600-17999000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:17976600-18006800	Weak transcription	Right Ventricle	heart
48	chr11:17976800-17994400	Weak transcription	Fetal Heart	heart
49	chr11:17977000-17992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:17977200-17984000	Strong transcription	Monocytes-CD14+_RO01746	blood

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