Variant report

Variant	rs7933621
Chromosome Location	chr11:9493973-9493974
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	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
2	chr11:9490464..9492574-chr11:9493572..9495384,2	K562	blood:

Variant related genes	Relation type
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1020621	0.86[ASN][1000 genomes]
rs1020622	0.86[ASN][1000 genomes]
rs10770033	0.86[ASN][1000 genomes]
rs10770034	0.97[ASN][1000 genomes]
rs10840237	0.85[ASN][1000 genomes]
rs10840238	0.86[ASN][1000 genomes]
rs10840243	0.96[ASN][1000 genomes]
rs10840244	0.92[ASN][1000 genomes]
rs10840245	1.00[ASN][1000 genomes]
rs10840247	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840249	0.94[ASN][1000 genomes]
rs11042348	0.83[ASN][1000 genomes]
rs11042349	0.81[ASN][1000 genomes]
rs11042350	0.86[ASN][1000 genomes]
rs11042353	0.86[ASN][1000 genomes]
rs11042355	0.86[ASN][1000 genomes]
rs11042356	0.86[ASN][1000 genomes]
rs11042366	0.85[ASN][1000 genomes]
rs11042374	0.95[ASN][1000 genomes]
rs11042377	1.00[ASN][1000 genomes]
rs11042393	0.92[ASN][1000 genomes]
rs11042395	0.95[ASN][1000 genomes]
rs11601316	0.91[ASN][1000 genomes]
rs11826606	0.81[ASN][1000 genomes]
rs12225755	0.80[ASN][1000 genomes]
rs12271897	0.86[ASN][1000 genomes]
rs12282176	0.86[ASN][1000 genomes]
rs12296039	0.83[ASN][1000 genomes]
rs12792161	0.98[ASN][1000 genomes]
rs12797567	0.83[ASN][1000 genomes]
rs12800802	0.86[ASN][1000 genomes]
rs12806418	0.98[ASN][1000 genomes]
rs1377667	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1470895	0.92[ASN][1000 genomes]
rs1470896	0.95[ASN][1000 genomes]
rs1543	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1968717	1.00[ASN][1000 genomes]
rs2278900	0.98[ASN][1000 genomes]
rs2290423	0.82[ASN][1000 genomes]
rs2290424	0.94[ASN][1000 genomes]
rs2290425	0.95[ASN][1000 genomes]
rs35781320	0.85[ASN][1000 genomes]
rs3763877	0.95[ASN][1000 genomes]
rs41369549	0.86[ASN][1000 genomes]
rs4810	0.86[ASN][1000 genomes]
rs4910053	0.89[ASN][1000 genomes]
rs4910468	0.95[ASN][1000 genomes]
rs6486359	0.86[ASN][1000 genomes]
rs6486361	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6486394	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67548305	0.86[ASN][1000 genomes]
rs7102473	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104568	0.86[ASN][1000 genomes]
rs7122252	0.86[ASN][1000 genomes]
rs723297	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727405	0.94[ASN][1000 genomes]
rs729313	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7395411	0.86[ASN][1000 genomes]
rs7483667	0.97[ASN][1000 genomes]
rs7926589	0.95[ASN][1000 genomes]
rs7949973	0.86[ASN][1000 genomes]
rs8785	0.86[ASN][1000 genomes]
rs972594	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7933621	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483200-9494200	Weak transcription	Gastric	stomach
2	chr11:9483200-9495000	Weak transcription	Spleen	Spleen
3	chr11:9483400-9499800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:9483600-9494000	Weak transcription	Ovary	ovary
5	chr11:9483600-9494600	Weak transcription	Esophagus	oesophagus
6	chr11:9483600-9499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9483600-9499400	Weak transcription	Pancreas	Pancrea
8	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:9484000-9494000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:9484000-9494000	Weak transcription	HSMMtube	muscle
11	chr11:9484000-9494200	Weak transcription	Brain Anterior Caudate	brain
12	chr11:9484000-9494200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:9484000-9494600	Weak transcription	Fetal Brain Female	brain
14	chr11:9484000-9494800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:9484000-9495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:9484000-9495200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:9484000-9499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:9484200-9494000	Weak transcription	Fetal Thymus	thymus
19	chr11:9484200-9494200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:9484200-9494200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:9484200-9494800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:9484200-9494800	Weak transcription	Fetal Brain Male	brain
23	chr11:9484200-9494800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:9484200-9494800	Weak transcription	HSMM	muscle
25	chr11:9484200-9495200	Weak transcription	Fetal Kidney	kidney
26	chr11:9484200-9499800	Weak transcription	Brain Angular Gyrus	brain
27	chr11:9484400-9495000	Weak transcription	Colonic Mucosa	Colon
28	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:9484800-9494000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:9484800-9494000	Weak transcription	Osteobl	bone
31	chr11:9484800-9494400	Weak transcription	NHLF	lung
32	chr11:9484800-9496000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:9485000-9494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:9485000-9494800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:9485000-9495000	Weak transcription	NHDF-Ad	bronchial
36	chr11:9485000-9495200	Weak transcription	Aorta	Aorta
37	chr11:9485200-9494000	Weak transcription	Dnd41	blood
38	chr11:9485200-9494200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:9485200-9494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:9485200-9494800	Weak transcription	HMEC	breast
41	chr11:9485200-9494800	Weak transcription	HUVEC	blood vessel
42	chr11:9485200-9494800	Weak transcription	NHEK	skin
43	chr11:9485200-9495400	Weak transcription	Brain Germinal Matrix	brain
44	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
45	chr11:9485400-9494000	Weak transcription	Right Ventricle	heart
46	chr11:9485400-9494200	Weak transcription	HepG2	liver
47	chr11:9485400-9494200	Weak transcription	NH-A	brain
48	chr11:9485400-9495200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:9485400-9495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:9485400-9499600	Weak transcription	A549	lung

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