Variant report

Variant	rs6505679
Chromosome Location	chr18:11890168-11890169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11885013..11887914-chr18:11888832..11891708,3	K562	blood:
2	chr18:11850832..11852430-chr18:11888810..11890757,2	K562	blood:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000154889	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3974590	0.81[EUR][1000 genomes]
rs593713	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs605961	0.83[EUR][1000 genomes]
rs6505680	0.81[EUR][1000 genomes]
rs662515	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs689057	0.82[EUR][1000 genomes]
rs9955178	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv909382	chr18:11870015-11892860	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11873200-11902000	Weak transcription	Fetal Heart	heart
2	chr18:11876800-11902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:11877000-11902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:11878200-11895000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr18:11878200-11902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:11880600-11891600	Strong transcription	Adipose Nuclei	Adipose
8	chr18:11880800-11891000	Strong transcription	Primary T cells from cord blood	blood
9	chr18:11881600-11898400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr18:11881800-11906200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
12	chr18:11882800-11891000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr18:11882800-11895600	Weak transcription	NHDF-Ad	bronchial
14	chr18:11883000-11890800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:11883400-11897000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:11883600-11893600	Weak transcription	HUVEC	blood vessel
17	chr18:11883600-11896800	Strong transcription	Fetal Intestine Small	intestine
18	chr18:11883600-11907000	Weak transcription	NH-A	brain
19	chr18:11883800-11890600	Strong transcription	Left Ventricle	heart
20	chr18:11883800-11890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr18:11883800-11891000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr18:11883800-11894200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr18:11883800-11898400	Strong transcription	Fetal Stomach	stomach
24	chr18:11884000-11890800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:11884000-11890800	Strong transcription	Esophagus	oesophagus
26	chr18:11884000-11891000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:11884000-11891800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr18:11884000-11893000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:11884000-11893400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:11884000-11893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:11884000-11893800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr18:11884000-11894200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:11884000-11897000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr18:11884000-11897200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr18:11884000-11898200	Strong transcription	Fetal Muscle Leg	muscle
36	chr18:11884000-11898800	Strong transcription	Thymus	Thymus
37	chr18:11884000-11899800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:11884000-11906200	Strong transcription	Fetal Thymus	thymus
39	chr18:11884200-11890800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr18:11884200-11891000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr18:11884200-11891000	Strong transcription	Brain Substantia Nigra	brain
42	chr18:11884200-11892000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:11884200-11892200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:11884200-11893600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:11884200-11897000	Strong transcription	Dnd41	blood
46	chr18:11884400-11890800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:11884400-11890800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr18:11884400-11891000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:11884400-11892000	Strong transcription	Placenta	Placenta
50	chr18:11884600-11894000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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