Variant report

Variant	rs72918721
Chromosome Location	chr2:39259598-39259599
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	chr2:39257934..39259870-chr2:39260403..39263004,2	K562	blood:
2	chr2:38976851..38978644-chr2:39259210..39261593,2	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10173380	0.90[ASN][1000 genomes]
rs10495883	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17023241	0.86[ASN][1000 genomes]
rs17023272	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41280639	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55649188	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57362484	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57866617	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59340802	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59988245	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61049772	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61392383	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61521176	0.90[ASN][1000 genomes]
rs6709646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6729359	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6735371	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6755453	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72906433	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72906442	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72906449	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72906454	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72906469	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7565814	0.95[ASN][1000 genomes]
rs7571797	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7581411	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7583010	1.00[ASN][1000 genomes]
rs7588123	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7592176	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7599990	0.86[ASN][1000 genomes]
rs7605889	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7609455	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39213400-39259800	Weak transcription	Right Ventricle	heart
2	chr2:39213800-39308000	Weak transcription	Pancreas	Pancrea
3	chr2:39227600-39303400	Weak transcription	Colonic Mucosa	Colon
4	chr2:39229800-39293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39232600-39300000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:39235400-39312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:39235600-39259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:39235600-39259800	Weak transcription	Spleen	Spleen
9	chr2:39235600-39293200	Weak transcription	Fetal Brain Male	brain
10	chr2:39235600-39295800	Weak transcription	NHLF	lung
11	chr2:39235600-39298200	Weak transcription	Small Intestine	intestine
12	chr2:39235600-39327800	Weak transcription	Esophagus	oesophagus
13	chr2:39235800-39284000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:39235800-39293600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:39236000-39260000	Weak transcription	Hela-S3	cervix
16	chr2:39236000-39295600	Weak transcription	Aorta	Aorta
17	chr2:39236000-39295800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:39236000-39305600	Weak transcription	Gastric	stomach
19	chr2:39236200-39305600	Weak transcription	Lung	lung
20	chr2:39236400-39263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:39237000-39260200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:39238400-39260600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:39240800-39262600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:39240800-39299200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:39241200-39259800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:39241600-39276400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:39241600-39292800	Weak transcription	GM12878-XiMat	blood
28	chr2:39243200-39299600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:39244600-39295400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:39246200-39259600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:39246600-39274000	Weak transcription	Fetal Kidney	kidney
32	chr2:39249600-39262000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:39250000-39282200	Weak transcription	Brain Anterior Caudate	brain
34	chr2:39250000-39292800	Weak transcription	Psoas Muscle	Psoas
35	chr2:39250200-39259600	Weak transcription	Osteobl	bone
36	chr2:39250200-39295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:39250200-39313600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:39250400-39262200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:39250400-39295600	Weak transcription	NH-A	brain
40	chr2:39250400-39303000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:39250600-39261200	Weak transcription	NHDF-Ad	bronchial
42	chr2:39250600-39279800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:39251000-39277000	Weak transcription	K562	blood
44	chr2:39251000-39293000	Weak transcription	HMEC	breast
45	chr2:39251600-39327200	Weak transcription	HUVEC	blood vessel
46	chr2:39251800-39259800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:39252200-39279200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:39252400-39274000	Weak transcription	A549	lung
49	chr2:39252400-39292400	Weak transcription	NHEK	skin
50	chr2:39253600-39262000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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