Variant report

Variant	rs2001254
Chromosome Location	chr2:95809238-95809239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95802957..95805442-chr2:95808699..95810395,2	K562	blood:
2	chr2:95808395..95810463-chr2:95811272..95813300,2	MCF-7	breast:
3	chr2:95807568..95810120-chr2:95838335..95841142,2	MCF-7	breast:
4	chr2:95795592..95798497-chr2:95807423..95809388,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10195614	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1104775	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12992066	0.82[EUR][1000 genomes]
rs17119148	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875402	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1966272	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2010533	0.87[EUR][1000 genomes]
rs2098768	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2291991	0.84[EUR][1000 genomes]
rs2320339	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2320619	0.86[EUR][1000 genomes]
rs2320620	0.86[EUR][1000 genomes]
rs2320621	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2320624	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105100	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105101	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105102	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105104	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105105	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112221	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112222	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112223	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112225	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112228	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112229	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112230	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112231	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112982	0.83[EUR][1000 genomes]
rs3112983	0.83[EUR][1000 genomes]
rs3112984	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112985	0.85[EUR][1000 genomes]
rs3112986	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112987	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112990	0.82[ASN][1000 genomes]
rs3112995	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112996	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112997	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112999	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113000	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3113001	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772044	0.81[EUR][1000 genomes]
rs4854243	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4854244	0.85[EUR][1000 genomes]
rs4854247	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4854249	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6719098	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723333	0.85[EUR][1000 genomes]
rs6725821	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585473	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7585914	0.83[EUR][1000 genomes]
rs7586229	0.83[EUR][1000 genomes]
rs872580	0.84[EUR][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	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
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95788200-95809800	Weak transcription	Right Ventricle	heart
2	chr2:95803000-95821600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr2:95803400-95821400	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr2:95803600-95822600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr2:95805000-95809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:95805200-95809600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:95806000-95809600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:95806800-95810400	ZNF genes & repeats	Fetal Brain Male	brain
9	chr2:95807600-95819200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
10	chr2:95807800-95821200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr2:95807800-95823200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:95808000-95821600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr2:95808000-95821600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
14	chr2:95808000-95823200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:95808200-95819000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr2:95808200-95821200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr2:95808200-95821400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:95808200-95821400	ZNF genes & repeats	Fetal Lung	lung
19	chr2:95808200-95822000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:95808200-95822200	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr2:95808200-95823000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr2:95808200-95823400	ZNF genes & repeats	Liver	Liver
23	chr2:95808400-95809800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:95808400-95813000	ZNF genes & repeats	Ovary	ovary
25	chr2:95808400-95813000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
26	chr2:95808400-95819000	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr2:95808400-95820200	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr2:95808400-95823800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:95808600-95809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:95808600-95812800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr2:95808600-95820200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr2:95809000-95809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:95809000-95813200	Weak transcription	Fetal Heart	heart
34	chr2:95809200-95810400	ZNF genes & repeats	Fetal Stomach	stomach

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