Variant report

Variant	rs36018286
Chromosome Location	chr2:54748355-54748356
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	chr2:54748253..54750106-chr2:54930790..54932794,2	MCF-7	breast:
2	chr2:54747821..54752887-chr2:54784386..54788690,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10528	0.81[EUR][1000 genomes]
rs11555856	0.81[EUR][1000 genomes]
rs11883910	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11904679	0.87[EUR][1000 genomes]
rs12987967	0.81[EUR][1000 genomes]
rs12990732	0.80[EUR][1000 genomes]
rs13006815	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13007109	0.85[EUR][1000 genomes]
rs13021615	0.94[EUR][1000 genomes]
rs13036147	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13391803	0.80[EUR][1000 genomes]
rs17039558	0.88[EUR][1000 genomes]
rs17045939	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17343815	0.86[EUR][1000 genomes]
rs17415725	0.85[EUR][1000 genomes]
rs2229503	0.81[EUR][1000 genomes]
rs34077590	0.83[EUR][1000 genomes]
rs34094680	0.86[EUR][1000 genomes]
rs34263579	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34308676	0.90[EUR][1000 genomes]
rs34429083	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34978408	0.86[EUR][1000 genomes]
rs35028480	0.83[EUR][1000 genomes]
rs3796022	0.90[EUR][1000 genomes]
rs4261758	0.91[EUR][1000 genomes]
rs4319969	0.87[EUR][1000 genomes]
rs45487791	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57281248	0.83[EUR][1000 genomes]
rs61126015	0.88[EUR][1000 genomes]
rs66693131	0.90[EUR][1000 genomes]
rs67079536	0.82[EUR][1000 genomes]
rs6734445	0.82[EUR][1000 genomes]
rs6734536	0.86[EUR][1000 genomes]
rs7586066	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36018286	EML6	cis	Thyroid	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
2	chr2:54732800-54754800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:54737000-54751400	Weak transcription	HUVEC	blood vessel
4	chr2:54737600-54753800	Weak transcription	Fetal Brain Male	brain
5	chr2:54738200-54751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:54738400-54751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:54740400-54751600	Weak transcription	Placenta	Placenta
8	chr2:54740400-54770200	Weak transcription	Esophagus	oesophagus
9	chr2:54740600-54749800	Weak transcription	HepG2	liver
10	chr2:54740600-54753400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:54740600-54761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:54742800-54750600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:54743600-54751600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:54744000-54777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:54744400-54751400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:54744400-54753400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:54744400-54753400	Weak transcription	Ovary	ovary
18	chr2:54744400-54769600	Weak transcription	Spleen	Spleen
19	chr2:54744600-54753400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:54745600-54748600	Enhancers	HMEC	breast
21	chr2:54746000-54748600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:54746200-54748400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:54746200-54748800	Enhancers	Left Ventricle	heart
24	chr2:54746200-54749400	Enhancers	NHDF-Ad	bronchial
25	chr2:54746200-54750200	Weak transcription	Fetal Kidney	kidney
26	chr2:54746400-54748400	Enhancers	NHLF	lung
27	chr2:54746400-54748600	Enhancers	Brain Anterior Caudate	brain
28	chr2:54746400-54748800	Enhancers	HSMM	muscle
29	chr2:54746400-54749200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:54746400-54749800	Weak transcription	Liver	Liver
31	chr2:54746600-54748400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:54746600-54749600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54746600-54751600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:54746600-54758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:54746800-54748600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:54746800-54748600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:54746800-54748600	Enhancers	Osteobl	bone
38	chr2:54746800-54748800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:54746800-54748800	Enhancers	A549	lung
40	chr2:54746800-54749800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:54746800-54750400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:54747000-54748400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:54747000-54748400	Enhancers	Pancreas	Pancrea
44	chr2:54747000-54749000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:54747000-54760600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:54747200-54748600	Enhancers	NH-A	brain
47	chr2:54747200-54748800	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:54747200-54750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:54747200-54750600	Weak transcription	Gastric	stomach
50	chr2:54747200-54750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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