Variant report

Variant	rs73417819
Chromosome Location	chr18:29738221-29738222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29737793..29738341-chr18:30132122..30132837,2	MCF-7	breast:
2	chr18:29737738..29738425-chr18:30129431..30129978,2	MCF-7	breast:
3	chr18:29737699..29739046-chr18:30132133..30133008,6	MCF-7	breast:
4	chr18:29737678..29740541-chr18:29744932..29747295,2	MCF-7	breast:
5	chr18:29737731..29738647-chr18:30131030..30131759,2	MCF-7	breast:
6	chr18:29737713..29738256-chr18:30129386..30129926,2	MCF-7	breast:
7	chr18:29737720..29738653-chr18:30132086..30132779,5	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4799638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8086092	0.84[EUR][1000 genomes];0.81[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	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29737600-29738600	Bivalent Enhancer	Dnd41	blood
2	chr18:29737800-29738400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:29737800-29738400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr18:29737800-29738600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:29737800-29738600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr18:29737800-29738600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:29737800-29738600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr18:29737800-29738600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:29738000-29738400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr18:29738000-29738400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:29738000-29738400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr18:29738000-29738400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr18:29738000-29738400	Active TSS	Hela-S3	cervix
14	chr18:29738000-29738400	Enhancers	K562	blood
15	chr18:29738000-29738600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr18:29738000-29738600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr18:29738000-29738600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:29738000-29738600	Active TSS	Brain Angular Gyrus	brain
19	chr18:29738000-29738600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr18:29738000-29738600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr18:29738000-29738600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr18:29738000-29738600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr18:29738000-29738600	Active TSS	NHEK	skin
24	chr18:29738000-29739000	Active TSS	Duodenum Mucosa	Duodenum
25	chr18:29738200-29738400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:29738200-29738400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr18:29738200-29738400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:29738200-29738400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:29738200-29738400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr18:29738200-29738400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr18:29738200-29738400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
32	chr18:29738200-29738400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr18:29738200-29738400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:29738200-29738400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:29738200-29738400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:29738200-29738400	Enhancers	Aorta	Aorta
37	chr18:29738200-29738400	Active TSS	Brain Cingulate Gyrus	brain
38	chr18:29738200-29738400	Flanking Active TSS	Colonic Mucosa	Colon
39	chr18:29738200-29738400	Active TSS	Fetal Muscle Trunk	muscle
40	chr18:29738200-29738400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr18:29738200-29738400	Active TSS	Stomach Smooth Muscle	stomach
42	chr18:29738200-29738400	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr18:29738200-29738400	Active TSS	HSMM	muscle
44	chr18:29738200-29738400	Flanking Active TSS	HUVEC	blood vessel
45	chr18:29738200-29738600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr18:29738200-29738600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:29738200-29738600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr18:29738200-29738600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:29738200-29738600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:29738200-29738600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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