Variant report

Variant	rs11042338
Chromosome Location	chr11:9429695-9429696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9429395-9429852	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9427119..9429993-chr11:9435420..9437551,3	K562	blood:

Variant related genes	Relation type
IPO7	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10770026	0.95[ASN][1000 genomes]
rs10840227	0.82[ASN][1000 genomes]
rs10840229	0.95[ASN][1000 genomes]
rs10840230	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840233	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840235	0.83[AMR][1000 genomes]
rs11042330	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042343	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042348	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11042349	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11608024	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12225755	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12418581	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12790938	0.94[ASN][1000 genomes]
rs12795344	0.81[AMR][1000 genomes]
rs12797567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12800802	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12801513	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12801924	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12804650	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34177710	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910051	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910465	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7115477	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7128033	0.95[ASN][1000 genomes]
rs7480253	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7480643	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042338	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407200-9430400	Weak transcription	Spleen	Spleen
2	chr11:9407200-9430600	Weak transcription	Esophagus	oesophagus
3	chr11:9407200-9430600	Weak transcription	Pancreas	Pancrea
4	chr11:9407200-9430800	Weak transcription	Gastric	stomach
5	chr11:9407600-9431400	Weak transcription	HSMMtube	muscle
6	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
7	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:9408200-9431000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:9408800-9431200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:9415800-9430000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:9418000-9430400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:9418200-9432200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
15	chr11:9419600-9429800	Weak transcription	Fetal Heart	heart
16	chr11:9419600-9430800	Weak transcription	Brain Angular Gyrus	brain
17	chr11:9419600-9432400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:9419800-9430600	Weak transcription	Ovary	ovary
20	chr11:9419800-9430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:9419800-9431200	Weak transcription	Brain Anterior Caudate	brain
22	chr11:9419800-9431600	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:9419800-9444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:9420000-9430400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:9420000-9430800	Weak transcription	Primary B cells from cord blood	blood
26	chr11:9420000-9432000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:9420000-9440200	Weak transcription	Fetal Kidney	kidney
28	chr11:9420200-9431000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:9420200-9432200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:9420400-9432200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:9420600-9430600	Weak transcription	Aorta	Aorta
32	chr11:9420600-9430800	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:9420600-9442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:9421600-9430400	Weak transcription	Fetal Lung	lung
37	chr11:9421600-9436400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:9421800-9430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:9424000-9430600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:9424800-9437800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:9424800-9438200	Strong transcription	Fetal Thymus	thymus
44	chr11:9424800-9438200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:9425000-9434000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell

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