Variant report

Variant	rs2972063
Chromosome Location	chr2:55261487-55261488
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55249100..55249700-chr2:55260972..55261897,2	K562	blood:
2	chr2:55253309..55255989-chr2:55259127..55262322,3	MCF-7	breast:
3	chr2:55253484..55256107-chr2:55261121..55262893,2	K562	blood:
4	chr2:55256333..55257873-chr2:55260544..55262457,2	MCF-7	breast:
5	chr2:55223597..55226125-chr2:55260747..55262677,2	K562	blood:
6	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
7	chr2:55215664..55218100-chr2:55259563..55261709,2	K562	blood:
8	chr2:55261058..55265438-chr2:55268460..55270489,4	MCF-7	breast:
9	chr2:55253656..55256107-chr2:55260589..55262893,2	K562	blood:
10	chr2:55257154..55258943-chr2:55260166..55262885,2	K562	blood:

No data

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13031431	0.94[ASN][1000 genomes]
rs17046579	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17046586	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17046589	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1822617	0.93[ASN][1000 genomes]
rs2255026	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2580768	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2580769	0.89[ASN][1000 genomes]
rs2580770	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2580771	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2588515	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2588516	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2588522	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2919126	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2920859	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920892	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968788	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972092	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34352825	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34378852	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34928331	0.93[ASN][1000 genomes]
rs35981204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672003	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545464	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545465	0.88[ASN][1000 genomes]
rs6734314	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6739210	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72795434	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2517082	chr2:55261451-55263014	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55243000-55262400	Weak transcription	Hela-S3	cervix
4	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
5	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
7	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
9	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:55254400-55262600	Enhancers	Brain Hippocampus Middle	brain
11	chr2:55254800-55265000	Enhancers	Brain Substantia Nigra	brain
12	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:55256400-55266600	Weak transcription	Left Ventricle	heart
15	chr2:55256400-55270400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:55256600-55262200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:55256600-55264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:55256600-55265200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:55256800-55264200	Weak transcription	HSMMtube	muscle
20	chr2:55257000-55262400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:55257600-55261600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:55257600-55261600	Enhancers	Brain Angular Gyrus	brain
23	chr2:55258000-55261600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:55258000-55262800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:55258000-55263000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:55258200-55262800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:55259000-55264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:55259000-55264600	Weak transcription	HMEC	breast
29	chr2:55259000-55264600	Weak transcription	NHLF	lung
30	chr2:55259000-55265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:55259000-55267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
33	chr2:55259200-55261600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:55259200-55261600	Enhancers	Brain Anterior Caudate	brain
35	chr2:55259200-55262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:55259200-55264400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
38	chr2:55259400-55261600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:55259400-55261600	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:55259400-55264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
42	chr2:55259600-55263400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:55259600-55263400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:55259800-55261600	Enhancers	Primary B cells from cord blood	blood
45	chr2:55259800-55261600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:55259800-55261600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:55259800-55261600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:55259800-55261800	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:55259800-55261800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:55259800-55262400	Genic enhancers	K562	blood

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