Variant report

Variant	rs36082214
Chromosome Location	chr2:113388364-113388365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113347066..113349613-chr2:113387380..113389746,2	K562	blood:
2	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
3	chr2:113388214..113390218-chr2:113391409..113393753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228251	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11900874	0.86[EUR][1000 genomes]
rs12987250	0.99[EUR][1000 genomes]
rs13025131	0.98[EUR][1000 genomes]
rs13030884	0.85[EUR][1000 genomes]
rs17586834	0.98[EUR][1000 genomes]
rs17587043	0.99[EUR][1000 genomes]
rs17647292	0.97[EUR][1000 genomes]
rs28819453	0.91[EUR][1000 genomes]
rs34015418	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35670704	1.00[EUR][1000 genomes]
rs3980072	0.91[EUR][1000 genomes]
rs3980074	0.91[EUR][1000 genomes]
rs4405766	0.86[EUR][1000 genomes]
rs6716749	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6716762	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6737981	0.98[EUR][1000 genomes]
rs71414685	0.98[EUR][1000 genomes]
rs7566777	0.98[EUR][1000 genomes]
rs7607685	0.97[EUR][1000 genomes]
rs7607817	0.98[EUR][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	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs36082214	AC079922.3	cis	Whole Blood	GTEx
rs36082214	AC079922.3	cis	Heart Left Ventricle	GTEx
rs36082214	AC079922.3	cis	Muscle Skeletal	GTEx
rs36082214	AC079922.3	cis	lung	GTEx
rs36082214	AC079922.3	cis	Esophagus Muscularis	GTEx
rs36082214	AC079922.3	cis	Artery Aorta	GTEx
rs36082214	AC079922.3	cis	Artery Tibial	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113372400-113388600	Weak transcription	Gastric	stomach
2	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:113381600-113389600	Enhancers	Placenta	Placenta
5	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:113384600-113388600	Weak transcription	Right Ventricle	heart
7	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113384800-113388600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:113384800-113388600	Weak transcription	Lung	lung
11	chr2:113384800-113389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:113384800-113389200	Weak transcription	Fetal Brain Female	brain
13	chr2:113385000-113388400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:113385000-113389600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:113385000-113389800	Enhancers	NHDF-Ad	bronchial
16	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
17	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
18	chr2:113385200-113388600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:113385200-113388600	Enhancers	NH-A	brain
20	chr2:113385200-113390600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:113385400-113388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:113385400-113389400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:113385600-113388400	Enhancers	HSMM	muscle
24	chr2:113385600-113388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:113385800-113388600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:113385800-113389200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:113385800-113389400	Enhancers	NHEK	skin
28	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:113386000-113388400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:113386000-113388600	Weak transcription	Right Atrium	heart
31	chr2:113386000-113388600	Weak transcription	Small Intestine	intestine
32	chr2:113386600-113390000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:113386800-113388600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:113387000-113388400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:113387200-113388600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:113387400-113388600	Enhancers	Fetal Thymus	thymus
37	chr2:113387400-113388600	Enhancers	K562	blood
38	chr2:113387400-113389600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:113387400-113389600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:113387400-113389600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:113387400-113389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:113387400-113389800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:113387400-113389800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:113387400-113389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:113387400-113389800	Enhancers	HSMMtube	muscle
46	chr2:113387600-113388600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:113387600-113388600	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:113387600-113388600	Bivalent Enhancer	HepG2	liver
49	chr2:113387600-113388800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:113387600-113389000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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