Variant report

Variant	rs4851160
Chromosome Location	chr2:99411703-99411704
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99393178..99396071-chr2:99408635..99411955,5	MCF-7	breast:
2	chr2:99408337..99412495-chr2:99418942..99424150,7	MCF-7	breast:
3	chr2:99374384..99376088-chr2:99411488..99413627,2	MCF-7	breast:
4	chr2:99411307..99414136-chr2:99484785..99487668,2	MCF-7	breast:
5	chr2:99345187..99349876-chr2:99408003..99411838,6	MCF-7	breast:
6	chr2:99346626..99348951-chr2:99410598..99412119,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2090181	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2203432	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871243	0.87[ASN][1000 genomes]
rs2871244	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731660	0.87[ASN][1000 genomes]
rs57185248	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58516468	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58560917	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59083513	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313126	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59989465	0.81[ASN][1000 genomes]
rs60496162	0.86[AFR][1000 genomes]
rs61042973	0.83[ASN][1000 genomes]
rs61311613	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61359279	0.83[ASN][1000 genomes]
rs61402919	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811003	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72811004	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72811005	0.85[ASN][1000 genomes]
rs72827726	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827727	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72827728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72827729	0.85[ASN][1000 genomes]
rs72827731	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72827732	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72827733	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72827734	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72827736	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827739	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72827740	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827741	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72827742	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827743	0.86[AFR][1000 genomes];0.87[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99401800-99412800	Weak transcription	Gastric	stomach
2	chr2:99403400-99412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:99404400-99417200	Weak transcription	Stomach Mucosa	stomach
4	chr2:99406000-99421800	Weak transcription	Spleen	Spleen
5	chr2:99406800-99412800	Weak transcription	Thymus	Thymus
6	chr2:99407000-99412200	Weak transcription	Fetal Thymus	thymus
7	chr2:99407600-99415800	Weak transcription	Left Ventricle	heart
8	chr2:99407600-99423800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:99407800-99412000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:99408200-99412600	Weak transcription	Lung	lung
11	chr2:99409000-99412800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:99409000-99415600	Weak transcription	Colonic Mucosa	Colon
13	chr2:99409200-99425800	Weak transcription	Small Intestine	intestine
14	chr2:99409400-99413800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:99409600-99426400	Weak transcription	Esophagus	oesophagus
16	chr2:99409800-99411800	Enhancers	HepG2	liver
17	chr2:99409800-99412800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:99409800-99413600	Enhancers	HUVEC	blood vessel
19	chr2:99410400-99412200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:99410600-99413000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:99410600-99414000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr2:99410600-99421600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:99410800-99412000	Weak transcription	Brain Anterior Caudate	brain
24	chr2:99410800-99412400	Weak transcription	Fetal Brain Male	brain
25	chr2:99410800-99413600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:99411000-99415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:99411200-99411800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:99411200-99412400	Weak transcription	Adipose Nuclei	Adipose
29	chr2:99411200-99412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:99411200-99412800	Weak transcription	Pancreas	Pancrea
31	chr2:99411200-99413200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:99411200-99413600	Weak transcription	Placenta	Placenta
33	chr2:99411200-99415200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:99411200-99415400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:99411200-99415600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:99411200-99421200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:99411200-99421200	Weak transcription	Right Atrium	heart
38	chr2:99411200-99422200	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:99411400-99412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:99411400-99415400	Weak transcription	HMEC	breast
41	chr2:99411600-99413200	Enhancers	Monocytes-CD14+_RO01746	blood

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