Variant report

Variant	rs7396544
Chromosome Location	chr11:9422208-9422209
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	chr11:9334599..9337963-chr11:9419653..9422855,3	K562	blood:

Variant related genes	Relation type
ENSG00000166471	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10743107	0.87[ASN][1000 genomes]
rs10770026	0.88[AMR][1000 genomes]
rs10770028	0.89[ASN][1000 genomes]
rs10770029	0.89[ASN][1000 genomes]
rs10770032	0.87[ASN][1000 genomes]
rs10840228	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10840229	0.88[AMR][1000 genomes]
rs10840234	0.85[ASN][1000 genomes]
rs10840235	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10840236	0.85[ASN][1000 genomes]
rs10840237	0.83[AMR][1000 genomes]
rs11042328	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11042329	0.88[ASN][1000 genomes]
rs11042348	0.81[ASN][1000 genomes]
rs12225755	0.83[ASN][1000 genomes]
rs12790938	0.86[AMR][1000 genomes]
rs12795344	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12797567	0.81[ASN][1000 genomes]
rs6486306	0.84[ASN][1000 genomes]
rs6486307	0.87[ASN][1000 genomes]
rs68060819	0.86[AMR][1000 genomes]
rs7114824	0.86[ASN][1000 genomes]
rs7128033	0.87[AMR][1000 genomes]
rs9787851	0.83[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
rs7396544	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407200-9425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:9407200-9427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9407200-9430400	Weak transcription	Spleen	Spleen
4	chr11:9407200-9430600	Weak transcription	Esophagus	oesophagus
5	chr11:9407200-9430600	Weak transcription	Pancreas	Pancrea
6	chr11:9407200-9430800	Weak transcription	Gastric	stomach
7	chr11:9407400-9427000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:9407400-9427000	Weak transcription	Left Ventricle	heart
9	chr11:9407600-9431400	Weak transcription	HSMMtube	muscle
10	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
11	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:9407800-9425400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:9407800-9427000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9408000-9424800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:9408200-9431000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:9408400-9428400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:9408800-9426400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:9408800-9427000	Weak transcription	Fetal Brain Female	brain
19	chr11:9408800-9431200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:9409000-9422800	Weak transcription	HUVEC	blood vessel
21	chr11:9409000-9424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:9409000-9424800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:9409000-9427000	Weak transcription	Liver	Liver
24	chr11:9409000-9427200	Weak transcription	HMEC	breast
25	chr11:9409200-9425600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:9409200-9427000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:9409200-9427200	Weak transcription	Psoas Muscle	Psoas
28	chr11:9410400-9425600	Weak transcription	Lung	lung
29	chr11:9411200-9424800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:9414000-9425800	Weak transcription	Fetal Intestine Large	intestine
31	chr11:9414400-9424800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:9414400-9425800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:9414800-9425800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:9414800-9426200	Weak transcription	Thymus	Thymus
35	chr11:9415400-9426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:9415800-9422600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:9415800-9430000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:9416000-9423000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:9416200-9424800	Weak transcription	Fetal Thymus	thymus
41	chr11:9418000-9424000	Weak transcription	Fetal Stomach	stomach
42	chr11:9418000-9425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:9418000-9430400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:9418200-9432200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:9418600-9423600	Strong transcription	Hela-S3	cervix
46	chr11:9418800-9423000	Weak transcription	Fetal Intestine Small	intestine
47	chr11:9419200-9424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:9419200-9424800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:9419200-9426400	Weak transcription	Placenta	Placenta
50	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine

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