Variant report

Variant	rs73956217
Chromosome Location	chr18:43736226-43736227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43694761..43697116-chr18:43735493..43737617,2	MCF-7	breast:
2	chr18:43734389..43736469-chr18:43738925..43741638,2	K562	blood:
3	chr18:43736114..43739011-chr18:43760662..43762501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152240	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs55759370	0.91[AFR][1000 genomes]
rs55767951	0.86[AFR][1000 genomes]
rs55880870	0.91[AFR][1000 genomes]
rs56023140	1.00[EUR][1000 genomes]
rs56044366	0.91[AFR][1000 genomes]
rs56065400	0.86[AFR][1000 genomes]
rs56912043	0.91[AFR][1000 genomes]
rs57502921	0.80[AFR][1000 genomes]
rs57693291	0.80[AFR][1000 genomes]
rs58398659	0.80[AFR][1000 genomes]
rs58725857	0.91[AFR][1000 genomes]
rs58899840	0.91[AFR][1000 genomes]
rs58961089	0.91[AFR][1000 genomes]
rs59429424	1.00[EUR][1000 genomes]
rs59752873	1.00[EUR][1000 genomes]
rs59910849	0.80[AFR][1000 genomes]
rs60100844	0.91[AFR][1000 genomes]
rs60336955	0.91[AFR][1000 genomes]
rs60384600	1.00[EUR][1000 genomes]
rs61201240	0.91[AFR][1000 genomes]
rs73427114	1.00[EUR][1000 genomes]
rs73427133	1.00[EUR][1000 genomes]
rs73956216	1.00[EUR][1000 genomes]
rs73956218	0.92[AFR][1000 genomes]
rs73956219	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73956221	0.86[AFR][1000 genomes]
rs73956222	0.94[AFR][1000 genomes]
rs73956223	0.94[AFR][1000 genomes]
rs73956231	0.91[AFR][1000 genomes]
rs73956233	0.86[AFR][1000 genomes]
rs73956234	0.91[AFR][1000 genomes]
rs73956249	0.86[AFR][1000 genomes]
rs73956251	0.80[AFR][1000 genomes]
rs73956264	1.00[EUR][1000 genomes]
rs73956269	1.00[EUR][1000 genomes]
rs73956270	1.00[EUR][1000 genomes]
rs73956272	1.00[EUR][1000 genomes]
rs73956273	1.00[EUR][1000 genomes]
rs73956280	1.00[EUR][1000 genomes]
rs73956281	1.00[EUR][1000 genomes]
rs73956284	1.00[EUR][1000 genomes]
rs8096742	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
2	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
3	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
4	chr18:43714000-43748400	Weak transcription	Ovary	ovary
5	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
6	chr18:43730200-43736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr18:43732600-43739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:43733000-43737200	Enhancers	HSMMtube	muscle
10	chr18:43733200-43736800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:43733200-43740600	Enhancers	HMEC	breast
13	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:43733400-43736400	Weak transcription	Esophagus	oesophagus
15	chr18:43733600-43738400	Weak transcription	Fetal Heart	heart
16	chr18:43733600-43738400	Weak transcription	Left Ventricle	heart
17	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:43733800-43737200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr18:43733800-43738000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:43733800-43738400	Enhancers	Hela-S3	cervix
22	chr18:43733800-43744200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:43733800-43746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr18:43734200-43746200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:43734600-43737200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:43734600-43740600	Enhancers	NHEK	skin
27	chr18:43734800-43736600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:43734800-43736600	Enhancers	Osteobl	bone
29	chr18:43734800-43736800	Enhancers	HSMM	muscle
30	chr18:43734800-43736800	Enhancers	NHDF-Ad	bronchial
31	chr18:43734800-43737000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:43734800-43737600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:43734800-43739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:43735000-43736400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:43735000-43738600	Weak transcription	Psoas Muscle	Psoas
36	chr18:43735000-43739000	Enhancers	Placenta	Placenta
37	chr18:43735200-43736800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:43735200-43737600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:43735400-43736400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:43735400-43736400	Enhancers	NHLF	lung
41	chr18:43735400-43737200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr18:43735400-43737600	Enhancers	Fetal Thymus	thymus
43	chr18:43735600-43736400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr18:43735600-43736400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr18:43735600-43736400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:43735600-43736400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr18:43735600-43736400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:43735600-43736600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:43735600-43736800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr18:43735600-43736800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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