Variant report

Variant	rs4758038
Chromosome Location	chr11:8022014-8022015
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	chr11:8021034..8023077-chr11:8027438..8029926,2	K562	blood:
2	chr11:8015926..8019399-chr11:8021894..8024855,4	K562	blood:

Variant related genes	Relation type
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10839958	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10839960	1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[ASN][1000 genomes]
rs10839962	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11041702	0.86[ASN][1000 genomes]
rs11041706	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1105984	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1132659	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1132660	0.91[ASN][1000 genomes]
rs12275353	1.00[JPT][hapmap]
rs12278319	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12294650	0.89[ASN][1000 genomes]
rs3892448	0.85[ASN][1000 genomes]
rs3903047	0.85[ASN][1000 genomes]
rs4076921	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4559682	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6578918	1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[ASN][1000 genomes]
rs6578919	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125891	0.88[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7126561	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7935597	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7941107	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7941782	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7950331	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs922062	1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4758038	OR51E2	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
2	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
3	chr11:8011200-8022800	Strong transcription	HSMM	muscle
4	chr11:8011400-8022200	Strong transcription	HMEC	breast
5	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr11:8012800-8022200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:8012800-8022200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:8012800-8022200	Strong transcription	Fetal Lung	lung
10	chr11:8012800-8022200	Strong transcription	GM12878-XiMat	blood
11	chr11:8012800-8022200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:8012800-8022400	Strong transcription	Liver	Liver
13	chr11:8012800-8022600	Strong transcription	A549	lung
14	chr11:8012800-8022800	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:8013000-8022200	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:8013200-8022400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:8016600-8025600	Weak transcription	Fetal Heart	heart
18	chr11:8017200-8022200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:8017200-8022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:8017800-8024800	Weak transcription	Esophagus	oesophagus
21	chr11:8018000-8031800	Weak transcription	Aorta	Aorta
22	chr11:8018400-8032000	Weak transcription	Right Ventricle	heart
23	chr11:8019000-8023200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:8019400-8024600	Weak transcription	Fetal Brain Male	brain
25	chr11:8019600-8022800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:8020000-8022200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:8020000-8022200	Weak transcription	Fetal Kidney	kidney
28	chr11:8020000-8022200	Weak transcription	Small Intestine	intestine
29	chr11:8020000-8023000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:8020000-8023600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:8020000-8024200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:8020000-8024400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:8020000-8024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:8020000-8028200	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:8020000-8033000	Weak transcription	NHDF-Ad	bronchial
36	chr11:8020200-8022200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:8020200-8022200	Weak transcription	Hela-S3	cervix
38	chr11:8020200-8022400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:8020200-8023000	Weak transcription	Ovary	ovary
40	chr11:8020200-8023600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:8020200-8023800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:8020200-8024200	Weak transcription	NHEK	skin
43	chr11:8020200-8024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:8020200-8025400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:8020200-8025400	Weak transcription	Brain Germinal Matrix	brain
46	chr11:8020200-8026600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:8020400-8022600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:8020400-8023800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:8020400-8023800	Weak transcription	NH-A	brain
50	chr11:8020600-8022200	Weak transcription	Dnd41	blood

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