Variant report

Variant	rs3771135
Chromosome Location	chr2:10547145-10547146
allele	C/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10546361..10548210-chr2:10629662..10631779,2	MCF-7	breast:
2	chr2:10261171..10265935-chr2:10544190..10551018,10	K562	blood:
3	chr2:10440924..10446095-chr2:10544022..10551736,19	MCF-7	breast:
4	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
5	chr2:10535464..10537756-chr2:10546210..10548957,2	K562	blood:
6	chr2:10543371..10546081-chr2:10546266..10548397,3	K562	blood:
7	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
8	chr2:10528409..10530378-chr2:10546581..10548332,2	MCF-7	breast:
9	chr2:10539665..10541710-chr2:10544795..10547261,2	MCF-7	breast:
10	chr2:10409606..10412546-chr2:10546766..10549181,2	MCF-7	breast:
11	chr2:10531124..10533976-chr2:10546440..10548143,2	MCF-7	breast:
12	chr2:10518586..10521002-chr2:10545177..10547256,3	MCF-7	breast:
13	chr2:10410711..10412312-chr2:10545552..10547500,2	K562	blood:
14	chr2:10441653..10444560-chr2:10544064..10547799,5	MCF-7	breast:
15	chr2:10546313..10548622-chr2:10549795..10552775,2	K562	blood:
16	chr2:10397007..10398752-chr2:10545824..10548279,2	MCF-7	breast:
17	chr2:10538831..10544260-chr2:10544573..10548851,6	K562	blood:
18	chr2:10394375..10395994-chr2:10546875..10548738,2	K562	blood:
19	chr2:10460038..10463230-chr2:10546392..10550535,3	MCF-7	breast:
20	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
21	chr2:10546025..10548259-chr2:10592640..10594576,2	MCF-7	breast:
22	chr2:10440762..10444214-chr2:10546694..10551810,5	K562	blood:
23	chr2:10546710..10550413-chr2:10585616..10590159,6	K562	blood:
24	chr2:10392994..10395994-chr2:10546875..10548738,3	K562	blood:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11694643	0.88[ASN][1000 genomes]
rs13383055	0.84[ASN][1000 genomes]
rs13383253	0.84[ASN][1000 genomes]
rs17434886	0.88[ASN][1000 genomes]
rs2270303	0.88[ASN][1000 genomes]
rs3755261	0.88[ASN][1000 genomes]
rs3755262	0.88[ASN][1000 genomes]
rs3771123	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3771126	0.91[ASN][1000 genomes]
rs3771144	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3771145	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3771146	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3821200	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55961729	0.84[ASN][1000 genomes]
rs56156675	0.84[ASN][1000 genomes]
rs56382508	0.84[ASN][1000 genomes]
rs62128251	0.88[ASN][1000 genomes]
rs62128252	0.88[ASN][1000 genomes]
rs62128254	0.88[ASN][1000 genomes]
rs62130179	0.88[ASN][1000 genomes]
rs62130183	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62130187	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62130191	0.84[ASN][1000 genomes]
rs7579181	0.93[ASN][1000 genomes]
rs7599203	0.88[ASN][1000 genomes]
rs7603265	0.93[ASN][1000 genomes]
rs7603352	0.93[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10533000-10551800	Weak transcription	Ovary	ovary
2	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:10541000-10547400	Weak transcription	K562	blood
4	chr2:10541200-10550800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:10541800-10547200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:10542000-10549400	Enhancers	HUVEC	blood vessel
7	chr2:10542200-10547600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:10542400-10549400	Enhancers	NHDF-Ad	bronchial
9	chr2:10543400-10547600	Weak transcription	HepG2	liver
10	chr2:10544000-10547400	Strong transcription	Fetal Intestine Large	intestine
11	chr2:10544000-10548000	Enhancers	HMEC	breast
12	chr2:10544200-10549600	Enhancers	Left Ventricle	heart
13	chr2:10544200-10549800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:10544400-10547200	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr2:10544400-10547400	Genic enhancers	Fetal Stomach	stomach
16	chr2:10544400-10548800	Enhancers	Esophagus	oesophagus
17	chr2:10544400-10549800	Enhancers	Right Ventricle	heart
18	chr2:10544600-10548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:10544600-10548200	Bivalent Enhancer	Placenta	Placenta
20	chr2:10544600-10548600	Enhancers	Liver	Liver
21	chr2:10544600-10549400	Enhancers	Right Atrium	heart
22	chr2:10544800-10547200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:10544800-10548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:10544800-10548800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:10544800-10549600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:10544800-10549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:10544800-10549800	Enhancers	Lung	lung
28	chr2:10545000-10548400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:10545200-10548400	Enhancers	Stomach Mucosa	stomach
30	chr2:10545200-10549800	Enhancers	Pancreas	Pancrea
31	chr2:10545400-10547200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:10545400-10547400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:10545400-10547600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:10545400-10549200	Enhancers	Thymus	Thymus
35	chr2:10545400-10549600	Enhancers	Spleen	Spleen
36	chr2:10545400-10551800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:10545600-10547200	Weak transcription	Gastric	stomach
38	chr2:10545600-10547600	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr2:10545600-10548000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:10545600-10548200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:10545600-10548200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:10545600-10549600	Enhancers	NH-A	brain
43	chr2:10545600-10549800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:10545800-10547200	Flanking Active TSS	HSMM	muscle
45	chr2:10545800-10547400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:10545800-10547600	Weak transcription	Fetal Lung	lung
47	chr2:10545800-10548200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:10545800-10548400	Weak transcription	NHLF	lung
49	chr2:10545800-10548600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:10545800-10549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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