Variant report

Variant	rs3771128
Chromosome Location	chr2:10549807-10549808
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10544615..10547096-chr2:10548655..10551250,3	K562	blood:
2	chr2:10548741..10551044-chr2:10552688..10554394,2	K562	blood:
3	chr2:10261171..10265935-chr2:10544190..10551018,10	K562	blood:
4	chr2:10328150..10328991-chr2:10548904..10549863,5	MCF-7	breast:
5	chr2:10440924..10446095-chr2:10544022..10551736,19	MCF-7	breast:
6	chr2:10495772..10497357-chr2:10549432..10551731,2	K562	blood:
7	chr2:10397551..10400374-chr2:10549393..10550991,2	MCF-7	breast:
8	chr2:10418216..10420909-chr2:10547555..10550904,3	K562	blood:
9	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
10	chr2:10445047..10447239-chr2:10547484..10549906,2	MCF-7	breast:
11	chr2:10266037..10268714-chr2:10547903..10550604,2	K562	blood:
12	chr2:10480270..10481880-chr2:10548259..10550783,2	MCF-7	breast:
13	chr2:10461532..10462376-chr2:10549061..10549873,2	MCF-7	breast:
14	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
15	chr2:10265098..10266000-chr2:10549288..10549837,2	MCF-7	breast:
16	chr2:10548229..10551901-chr2:10552572..10557970,6	K562	blood:
17	chr2:10531886..10534694-chr2:10548127..10550273,2	K562	blood:
18	chr2:10544615..10546165-chr2:10548581..10550648,2	K562	blood:
19	chr2:10379794..10381312-chr2:10548728..10550420,2	K562	blood:
20	chr2:10410367..10411323-chr2:10548606..10549914,5	K562	blood:
21	chr2:10537541..10541103-chr2:10547321..10550436,3	MCF-7	breast:
22	chr2:10436642..10438745-chr2:10547775..10550649,2	K562	blood:
23	chr2:10543950..10547023-chr2:10547884..10550475,4	MCF-7	breast:
24	chr2:10535204..10537517-chr2:10547562..10550495,2	MCF-7	breast:
25	chr2:10547842..10550365-chr2:10556156..10557846,2	K562	blood:
26	chr2:10266037..10269086-chr2:10547903..10550826,4	K562	blood:
27	chr2:10460038..10463230-chr2:10546392..10550535,3	MCF-7	breast:
28	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
29	chr2:10440762..10444214-chr2:10546694..10551810,5	K562	blood:
30	chr2:10546313..10548622-chr2:10549795..10552775,2	K562	blood:
31	chr15:93631076..93631748-chr2:10548940..10549868,2	MCF-7	breast:
32	chr2:10259324..10265273-chr2:10547206..10552383,9	K562	blood:
33	chr2:10548913..10551031-chr2:10587775..10589671,2	K562	blood:
34	chr2:10328070..10328961-chr2:10549008..10550652,5	MCF-7	breast:
35	chr2:10546710..10550413-chr2:10585616..10590159,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10189719	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12467741	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12472775	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1808315	0.93[ASN][1000 genomes]
rs35158739	0.84[ASN][1000 genomes]
rs3755263	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755264	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771129	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3771134	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771138	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771141	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62130186	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62130189	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62130190	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876614	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs876615	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs876616	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10533000-10551800	Weak transcription	Ovary	ovary
2	chr2:10541200-10550800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:10545400-10551800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:10545800-10550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:10546200-10550600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10546400-10551400	Enhancers	Fetal Thymus	thymus
7	chr2:10546600-10550600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:10546800-10551400	Genic enhancers	Fetal Intestine Small	intestine
9	chr2:10547000-10550200	Enhancers	Small Intestine	intestine
10	chr2:10547000-10551600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:10547200-10551600	Enhancers	HSMM	muscle
12	chr2:10547400-10551200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:10547400-10551400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:10547600-10550800	Enhancers	Fetal Intestine Large	intestine
15	chr2:10547600-10551000	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:10547600-10551600	Enhancers	Fetal Lung	lung
17	chr2:10547800-10551600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:10548200-10551000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr2:10548200-10551000	Enhancers	Placenta	Placenta
20	chr2:10548400-10550000	Enhancers	Fetal Kidney	kidney
21	chr2:10548400-10550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:10548400-10550200	Weak transcription	HSMMtube	muscle
23	chr2:10548400-10552200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:10548600-10551200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:10549000-10550000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:10549000-10550000	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:10549000-10551400	Enhancers	Fetal Brain Male	brain
28	chr2:10549000-10551600	Enhancers	Brain Germinal Matrix	brain
29	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
30	chr2:10549200-10551200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:10549200-10551400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:10549400-10550400	Weak transcription	Primary T cells from cord blood	blood
33	chr2:10549400-10550400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:10549400-10550800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:10549400-10550800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:10549400-10551200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:10549400-10552000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:10549400-10552200	Weak transcription	Osteobl	bone
39	chr2:10549400-10553000	Weak transcription	HUVEC	blood vessel
40	chr2:10549400-10553600	Weak transcription	NHLF	lung
41	chr2:10549400-10554000	Weak transcription	Right Atrium	heart
42	chr2:10549400-10554000	Weak transcription	NHDF-Ad	bronchial
43	chr2:10549400-10554200	Weak transcription	Aorta	Aorta
44	chr2:10549400-10555000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:10549400-10562200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:10549400-10563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:10549600-10550000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:10549600-10550000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:10549600-10550400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:10549600-10550400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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