Variant report

Variant	rs73411516
Chromosome Location	chr18:29466999-29467000
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	chr18:29450239..29451940-chr18:29466117..29468159,2	K562	blood:

Variant related genes	Relation type
ENSG00000153339	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs28420519	1.00[EUR][1000 genomes]
rs28473031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504474	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28760310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7244322	0.91[EUR][1000 genomes]
rs8084534	0.81[EUR][1000 genomes]
rs8084615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8086361	0.91[EUR][1000 genomes]
rs8098568	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304106	1.00[EUR][1000 genomes]
rs9948663	1.00[EUR][1000 genomes]
rs9949329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9954954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9956632	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9963080	1.00[EUR][1000 genomes]
rs9965666	1.00[AMR][1000 genomes];1.00[EUR][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	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
2	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:123 , 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	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
9	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
13	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
14	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
15	chr18:29450200-29471800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr18:29452000-29472000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr18:29456000-29479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr18:29456000-29480000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr18:29457000-29480400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
21	chr18:29457200-29468600	Weak transcription	HMEC	breast
22	chr18:29457200-29479600	Weak transcription	Colonic Mucosa	Colon
23	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:29457400-29479800	Weak transcription	Pancreas	Pancrea
25	chr18:29457400-29484800	Weak transcription	NHEK	skin
26	chr18:29457600-29479800	Weak transcription	Right Ventricle	heart
27	chr18:29458200-29479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:29458200-29479600	Weak transcription	Aorta	Aorta
29	chr18:29458200-29479600	Weak transcription	Esophagus	oesophagus
30	chr18:29458200-29482600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:29458600-29485200	Weak transcription	Brain Substantia Nigra	brain
32	chr18:29458800-29469000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr18:29458800-29471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr18:29459000-29481400	Weak transcription	NHLF	lung
35	chr18:29459400-29469000	Weak transcription	HepG2	liver
36	chr18:29459400-29474200	Weak transcription	Hela-S3	cervix
37	chr18:29460200-29469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:29460400-29501200	Strong transcription	Liver	Liver
39	chr18:29460800-29468800	Weak transcription	Osteobl	bone
40	chr18:29461000-29467600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:29461400-29471000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:29461400-29494200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr18:29461600-29468600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr18:29461600-29471800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:29461600-29471800	Strong transcription	Fetal Intestine Large	intestine
46	chr18:29461600-29491200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
48	chr18:29461800-29470800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
50	chr18:29462200-29470400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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