Variant report

Variant	rs72918000
Chromosome Location	chr4:122781889-122781890
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122775243..122777895-chr4:122780430..122781968,2	K562	blood:
2	chr4:122721460..122723006-chr4:122781876..122783568,2	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11930245	1.00[EUR][1000 genomes]
rs11930756	1.00[EUR][1000 genomes]
rs11933339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs1507987	0.83[AMR][1000 genomes]
rs1507988	0.83[AMR][1000 genomes]
rs17005269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17005276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2661556	0.83[AMR][1000 genomes]
rs2706797	0.83[AMR][1000 genomes]
rs3217770	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34669312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811743	0.83[AMR][1000 genomes]
rs4001033	0.83[AMR][1000 genomes]
rs4132552	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915943	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919903	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769240	0.83[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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
3	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
6	chr4:122745800-122786800	Weak transcription	A549	lung
7	chr4:122745800-122790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:122745800-122790400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:122745800-122790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:122745800-122790400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:122745800-122790800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:122751400-122789800	Weak transcription	NHEK	skin
13	chr4:122751400-122790400	Weak transcription	Primary B cells from cord blood	blood
14	chr4:122751600-122790200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:122754600-122790000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:122755400-122790800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:122757600-122790200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:122758000-122790000	Weak transcription	HepG2	liver
19	chr4:122760600-122791000	Weak transcription	Spleen	Spleen
20	chr4:122761000-122785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:122761200-122785000	Weak transcription	K562	blood
22	chr4:122762800-122790200	Weak transcription	Brain Substantia Nigra	brain
23	chr4:122764600-122790600	Weak transcription	Colonic Mucosa	Colon
24	chr4:122768000-122787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:122768000-122790000	Weak transcription	Fetal Brain Male	brain
26	chr4:122768000-122790600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:122768000-122790600	Weak transcription	Right Ventricle	heart
28	chr4:122768200-122783800	Weak transcription	Pancreas	Pancrea
29	chr4:122768200-122790200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:122768200-122790600	Weak transcription	Esophagus	oesophagus
31	chr4:122768200-122790600	Weak transcription	HSMMtube	muscle
32	chr4:122768200-122790800	Weak transcription	Aorta	Aorta
33	chr4:122768200-122790800	Weak transcription	Gastric	stomach
34	chr4:122768800-122786600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:122768800-122790200	Weak transcription	Fetal Kidney	kidney
36	chr4:122770600-122786600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:122770600-122787400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:122770600-122790200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:122770600-122790600	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:122770800-122783600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:122770800-122783800	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:122771000-122783800	Weak transcription	Left Ventricle	heart
43	chr4:122771000-122790200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:122771000-122790800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:122771800-122786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:122773200-122782200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:122773200-122784600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:122773200-122790000	Weak transcription	Brain Angular Gyrus	brain
49	chr4:122774000-122784400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:122774200-122789600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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