Variant report

Variant	rs3112222
Chromosome Location	chr2:95782742-95782743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95773953..95776427-chr2:95781634..95783424,2	MCF-7	breast:
2	chr2:95781323..95783802-chr2:95829858..95832827,2	MCF-7	breast:
3	chr2:95775502..95778288-chr2:95780318..95783797,3	K562	blood:
4	chr2:95741563..95744104-chr2:95781208..95785106,3	MCF-7	breast:
5	chr2:95782670..95785477-chr2:95785880..95788763,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163067	Chromatin interaction
ENSG00000144029	Chromatin interaction
ENSG00000144026	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs17119148	0.87[EUR][1000 genomes]
rs1875402	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1966272	0.85[EUR][1000 genomes]
rs2001254	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2010533	0.81[EUR][1000 genomes]
rs2098768	0.85[EUR][1000 genomes]
rs2291991	0.84[EUR][1000 genomes]
rs2320619	0.86[EUR][1000 genomes]
rs2320620	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2320621	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2320624	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105100	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3105101	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3105102	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3105104	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3105105	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112221	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112223	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112225	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112228	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3112229	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3112230	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112231	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3112982	0.83[EUR][1000 genomes]
rs3112983	0.84[EUR][1000 genomes]
rs3112984	0.87[EUR][1000 genomes]
rs3112985	0.85[EUR][1000 genomes]
rs3112986	0.87[EUR][1000 genomes]
rs3112987	0.87[EUR][1000 genomes]
rs3112995	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112996	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112997	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112999	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3113000	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3113001	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4854243	0.87[EUR][1000 genomes]
rs4854244	0.85[EUR][1000 genomes]
rs4854247	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4854249	0.84[EUR][1000 genomes]
rs6719098	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6723333	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6725821	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7585473	0.88[EUR][1000 genomes]
rs872580	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95759400-95783800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:95764000-95783800	Strong transcription	A549	lung
3	chr2:95764000-95786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:95764600-95784200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:95764800-95783600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:95765000-95783600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:95766000-95783800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:95773000-95784200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:95774200-95786800	Weak transcription	Aorta	Aorta
10	chr2:95774600-95785400	Weak transcription	Esophagus	oesophagus
11	chr2:95774800-95786200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:95775400-95786000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:95775600-95785000	Weak transcription	Fetal Heart	heart
14	chr2:95776000-95784000	Weak transcription	Pancreas	Pancrea
15	chr2:95776000-95785400	Weak transcription	Fetal Brain Male	brain
16	chr2:95776000-95785600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:95776400-95785000	Weak transcription	Psoas Muscle	Psoas
18	chr2:95776600-95783800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:95777000-95783800	Weak transcription	Right Ventricle	heart
20	chr2:95777200-95785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:95777600-95783200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:95778600-95784000	Weak transcription	Lung	lung
23	chr2:95778600-95786000	Weak transcription	NHLF	lung
24	chr2:95779200-95783400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:95779600-95784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:95779600-95786600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:95779800-95784200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:95779800-95785600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:95779800-95786200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:95780000-95785400	Weak transcription	Small Intestine	intestine
31	chr2:95780000-95785600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:95780000-95786400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:95780200-95783600	Strong transcription	Hela-S3	cervix
34	chr2:95780200-95783800	Weak transcription	Ovary	ovary
35	chr2:95780200-95783800	Weak transcription	Spleen	Spleen
36	chr2:95780200-95785000	Weak transcription	Colonic Mucosa	Colon
37	chr2:95780400-95783200	Strong transcription	K562	blood
38	chr2:95780800-95784200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:95780800-95785400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:95781000-95783000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:95781000-95783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:95781000-95783800	Weak transcription	GM12878-XiMat	blood
43	chr2:95781000-95784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:95781000-95785000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:95781000-95785000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:95781000-95785000	Weak transcription	Left Ventricle	heart
47	chr2:95781000-95785400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:95781000-95785600	Weak transcription	NHEK	skin
49	chr2:95781000-95785800	Weak transcription	HMEC	breast
50	chr2:95781000-95785800	Weak transcription	NHDF-Ad	bronchial

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