Variant report

Variant	rs3771143
Chromosome Location	chr2:10541375-10541376
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10539665..10541710-chr2:10544795..10547261,2	MCF-7	breast:
2	chr2:10538831..10544260-chr2:10544573..10548851,6	K562	blood:
3	chr2:10539200..10541759-chr2:10543040..10545009,3	K562	blood:
4	chr2:10533744..10537127-chr2:10539374..10542865,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3771136	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3771140	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3771148	0.88[ASN][1000 genomes]
rs4668682	0.87[ASN][1000 genomes]
rs55676360	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv3439050	chr2:10539751-10542249	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10531000-10542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:10531000-10544600	Weak transcription	NHLF	lung
5	chr2:10531200-10542400	Weak transcription	HSMMtube	muscle
6	chr2:10531200-10542400	Weak transcription	NH-A	brain
7	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:10531400-10541600	Weak transcription	Osteobl	bone
9	chr2:10533000-10551800	Weak transcription	Ovary	ovary
10	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:10533600-10544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:10533600-10544200	Weak transcription	Fetal Brain Female	brain
13	chr2:10534000-10545400	Weak transcription	Fetal Lung	lung
14	chr2:10536000-10541400	Genic enhancers	Spleen	Spleen
15	chr2:10536200-10541600	Strong transcription	Fetal Stomach	stomach
16	chr2:10537000-10543000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:10537000-10543400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:10537400-10542600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:10537400-10542600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:10537400-10542800	Enhancers	Left Ventricle	heart
21	chr2:10537600-10542600	Genic enhancers	Lung	lung
22	chr2:10538200-10541800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:10538200-10542800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:10538200-10544400	Weak transcription	Psoas Muscle	Psoas
25	chr2:10538800-10541400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:10539000-10542000	Strong transcription	Thymus	Thymus
27	chr2:10539400-10544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:10539600-10542000	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr2:10539600-10542800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:10539600-10544400	Weak transcription	Fetal Kidney	kidney
31	chr2:10539800-10541400	Genic enhancers	Pancreas	Pancrea
32	chr2:10539800-10541600	Genic enhancers	Hela-S3	cervix
33	chr2:10539800-10542000	Enhancers	Right Atrium	heart
34	chr2:10539800-10542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:10539800-10542600	Genic enhancers	Gastric	stomach
36	chr2:10539800-10542800	Enhancers	Stomach Mucosa	stomach
37	chr2:10540000-10542000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:10540000-10542600	Genic enhancers	Primary B cells from cord blood	blood
39	chr2:10540000-10542600	Enhancers	Right Ventricle	heart
40	chr2:10540200-10541400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:10540200-10541400	Enhancers	GM12878-XiMat	blood
42	chr2:10540200-10541400	Genic enhancers	HMEC	breast
43	chr2:10540200-10542000	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:10540200-10542600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:10540200-10543000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:10540200-10544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:10540400-10541400	Enhancers	Liver	Liver
48	chr2:10540400-10541600	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr2:10540400-10541600	Enhancers	HUVEC	blood vessel
50	chr2:10540400-10542000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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