Variant report

Variant	rs72905494
Chromosome Location	chr4:119670953-119670954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119665912..119668457-chr4:119669901..119672120,2	K562	blood:
2	chr4:119665912..119667477-chr4:119669901..119672187,2	K562	blood:
3	chr4:119670255..119672851-chr4:119678111..119680556,2	MCF-7	breast:
4	chr4:119668266..119671163-chr4:119684905..119687302,2	K562	blood:
5	chr4:119670705..119673656-chr4:119687448..119689400,2	K562	blood:
6	chr4:119670217..119672874-chr4:119676362..119678099,2	MCF-7	breast:
7	chr4:119670134..119671986-chr4:119675733..119678619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17050428	1.00[EUR][1000 genomes]
rs4572856	1.00[EUR][1000 genomes]
rs59514079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59912399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905487	1.00[EUR][1000 genomes]
rs72907288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
3	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
4	chr4:119630400-119674200	Weak transcription	A549	lung
5	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:119641600-119679800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:119649200-119675200	Weak transcription	Brain Substantia Nigra	brain
8	chr4:119649200-119687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:119651800-119672600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:119651800-119687400	Weak transcription	Thymus	Thymus
12	chr4:119652000-119672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:119654400-119672600	Strong transcription	NH-A	brain
14	chr4:119654400-119687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:119654800-119676000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:119655400-119672800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr4:119659600-119690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:119660000-119672800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:119660400-119673600	Strong transcription	Fetal Intestine Large	intestine
20	chr4:119660400-119688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:119660400-119689800	Weak transcription	Brain Angular Gyrus	brain
22	chr4:119661600-119671200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:119661800-119671400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:119661800-119672800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:119661800-119684600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:119662000-119671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:119662000-119677400	Weak transcription	Fetal Kidney	kidney
28	chr4:119662000-119687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr4:119663400-119672600	Strong transcription	HSMM	muscle
31	chr4:119663600-119675000	Weak transcription	Aorta	Aorta
32	chr4:119664200-119672200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:119664200-119672600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:119664200-119672600	Weak transcription	Colonic Mucosa	Colon
35	chr4:119664200-119672600	Strong transcription	NHLF	lung
36	chr4:119665200-119671400	Weak transcription	Primary B cells from cord blood	blood
37	chr4:119665200-119671400	Weak transcription	NHEK	skin
38	chr4:119665200-119675000	Weak transcription	Fetal Brain Male	brain
39	chr4:119665200-119687600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:119665600-119675200	Weak transcription	Small Intestine	intestine
41	chr4:119665600-119678000	Weak transcription	Esophagus	oesophagus
42	chr4:119665800-119671200	Weak transcription	Dnd41	blood
43	chr4:119665800-119671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:119665800-119671400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:119665800-119672200	Weak transcription	Pancreas	Pancrea
46	chr4:119665800-119672400	Strong transcription	Osteobl	bone
47	chr4:119665800-119672600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:119665800-119687400	Weak transcription	Spleen	Spleen
49	chr4:119666000-119672000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:119666200-119671400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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