Variant report

Variant	rs73954904
Chromosome Location	chr18:29454130-29454131
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	chr18:29452756..29454913-chr18:29671972..29673873,2	MCF-7	breast:
2	chr18:29446087..29447957-chr18:29452902..29455366,2	K562	blood:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10153421	0.97[ASN][1000 genomes]
rs12326219	0.97[ASN][1000 genomes]
rs12326244	0.94[ASN][1000 genomes]
rs12327141	0.97[ASN][1000 genomes]
rs12709653	0.97[ASN][1000 genomes]
rs12956638	0.97[ASN][1000 genomes]
rs12957365	0.97[ASN][1000 genomes]
rs12959996	0.97[ASN][1000 genomes]
rs12963424	0.97[ASN][1000 genomes]
rs12963629	0.97[ASN][1000 genomes]
rs12965515	0.97[ASN][1000 genomes]
rs12965893	0.97[ASN][1000 genomes]
rs12967531	0.97[ASN][1000 genomes]
rs12968487	0.97[ASN][1000 genomes]
rs2035418	0.97[ASN][1000 genomes]
rs2291238	0.97[ASN][1000 genomes]
rs28540496	0.97[ASN][1000 genomes]
rs34011014	1.00[ASN][1000 genomes]
rs34846731	0.97[ASN][1000 genomes]
rs36062390	0.97[ASN][1000 genomes]
rs4581778	0.97[ASN][1000 genomes]
rs7233820	0.97[ASN][1000 genomes]
rs7244508	0.97[ASN][1000 genomes]
rs73954910	0.82[AFR][1000 genomes]
rs73958215	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084584	0.90[ASN][1000 genomes]
rs8086196	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087104	0.97[ASN][1000 genomes]
rs9675795	0.97[ASN][1000 genomes]
rs9807439	0.97[ASN][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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:29409800-29466600	Weak transcription	Gastric	stomach
7	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
8	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
9	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
10	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:29418600-29454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
15	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
16	chr18:29418800-29456600	Weak transcription	NHEK	skin
17	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr18:29419400-29458600	Weak transcription	NHLF	lung
20	chr18:29421800-29455400	Strong transcription	Liver	Liver
21	chr18:29422800-29455200	Weak transcription	Ovary	ovary
22	chr18:29425800-29456600	Weak transcription	Fetal Brain Female	brain
23	chr18:29426800-29454400	Weak transcription	Esophagus	oesophagus
24	chr18:29428400-29454600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:29431800-29461800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr18:29432200-29455400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:29432400-29454800	Weak transcription	Brain Angular Gyrus	brain
30	chr18:29432400-29455200	Weak transcription	Lung	lung
31	chr18:29432400-29461200	Weak transcription	Psoas Muscle	Psoas
32	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
33	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
37	chr18:29433200-29455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:29433600-29454800	Weak transcription	Thymus	Thymus
39	chr18:29434000-29459000	Weak transcription	Hela-S3	cervix
40	chr18:29434000-29460800	Weak transcription	A549	lung
41	chr18:29435400-29458800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr18:29437800-29454400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:29437800-29456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:29438000-29454400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:29438000-29455400	Weak transcription	HSMMtube	muscle
46	chr18:29438000-29456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:29438200-29457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:29438200-29458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr18:29441200-29460400	Weak transcription	Brain Hippocampus Middle	brain
50	chr18:29443000-29455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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