Variant report

Variant	rs7484027
Chromosome Location	chr11:17368381-17368382
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17368260..17372452-chr11:17372695..17374422,3	K562	blood:
2	chr11:17368082..17370692-chr11:17372367..17374432,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10766392	0.81[CHB][hapmap]
rs10832776	0.82[ASN][1000 genomes]
rs10832778	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11024268	0.80[ASN][1000 genomes]
rs12146443	0.83[ASN][1000 genomes]
rs12146652	0.80[ASN][1000 genomes]
rs1557765	0.85[CHB][hapmap]
rs2051772	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2214285	1.00[YRI][hapmap]
rs4439492	0.80[ASN][1000 genomes]
rs5215	0.85[CHB][hapmap]
rs6486364	0.97[YRI][hapmap]
rs7112244	0.90[YRI][hapmap]
rs7928810	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7484027	RP1-239B22.5	cis	Esophagus Mucosa	GTEx
rs7484027	NCR3LG1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:17320800-17372400	Weak transcription	GM12878-XiMat	blood
3	chr11:17334000-17371000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:17336200-17372600	Weak transcription	HUVEC	blood vessel
5	chr11:17354200-17369200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:17354400-17373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:17354600-17372400	Weak transcription	Liver	Liver
8	chr11:17356000-17371000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:17356000-17372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:17356000-17372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:17356000-17372600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:17356000-17372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:17356000-17372800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:17356000-17372800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:17356200-17372400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:17356200-17372400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:17356200-17372400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:17356200-17372600	Weak transcription	Adipose Nuclei	Adipose
19	chr11:17356200-17372800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:17356200-17372800	Weak transcription	Aorta	Aorta
21	chr11:17356200-17372800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:17356200-17372800	Weak transcription	Ovary	ovary
23	chr11:17356200-17373000	Weak transcription	Left Ventricle	heart
24	chr11:17356400-17373000	Weak transcription	Esophagus	oesophagus
25	chr11:17359000-17372400	Weak transcription	Brain Germinal Matrix	brain
26	chr11:17359200-17372200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:17360800-17370600	Weak transcription	Thymus	Thymus
28	chr11:17364800-17368800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:17364800-17371600	Strong transcription	Dnd41	blood
30	chr11:17365400-17372600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:17365600-17372600	Weak transcription	Osteobl	bone
32	chr11:17365800-17372800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:17365800-17372800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:17365800-17372800	Weak transcription	NH-A	brain
35	chr11:17366000-17372600	Weak transcription	NHLF	lung
36	chr11:17366000-17372800	Weak transcription	HMEC	breast
37	chr11:17366200-17372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:17366200-17373000	Weak transcription	NHEK	skin
39	chr11:17366600-17368600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:17366600-17372600	Weak transcription	Primary T cells from cord blood	blood
41	chr11:17367600-17368400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr11:17368000-17370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:17368200-17368800	Weak transcription	Fetal Thymus	thymus

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