Variant report

Variant	rs13423271
Chromosome Location	chr2:95826672-95826673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95785779..95790467-chr2:95823486..95827115,8	MCF-7	breast:
2	chr2:95786924..95788692-chr2:95824596..95827571,3	K562	blood:
3	chr2:95826283..95829129-chr2:95833738..95835738,2	K562	blood:
4	chr2:95814038..95816803-chr2:95823104..95826705,3	MCF-7	breast:
5	chr2:95786341..95789100-chr2:95823386..95827487,4	K562	blood:
6	chr2:95819317..95822422-chr2:95822947..95826837,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144026	Chromatin interaction
ENSG00000144029	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10201886	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10202767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36120917	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73957746	0.88[AFR][1000 genomes];1.00[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95825800-95828600	Weak transcription	Spleen	Spleen
2	chr2:95826000-95828400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:95826000-95830000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:95826000-95830000	Weak transcription	Colonic Mucosa	Colon
5	chr2:95826000-95830000	Weak transcription	Fetal Lung	lung
6	chr2:95826000-95830000	Weak transcription	Hela-S3	cervix
7	chr2:95826000-95830000	Weak transcription	NHLF	lung
8	chr2:95826000-95830200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:95826000-95830200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:95826000-95830200	Weak transcription	HUVEC	blood vessel
11	chr2:95826000-95830200	Weak transcription	NHDF-Ad	bronchial
12	chr2:95826000-95830400	Weak transcription	Small Intestine	intestine
13	chr2:95826000-95830600	Weak transcription	Ovary	ovary
14	chr2:95826000-95830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:95826200-95827200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:95826200-95828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:95826200-95828200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:95826200-95828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:95826200-95828400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:95826200-95828400	Weak transcription	Lung	lung
21	chr2:95826200-95828800	Weak transcription	Fetal Brain Female	brain
22	chr2:95826200-95828800	Weak transcription	Left Ventricle	heart
23	chr2:95826200-95829000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:95826200-95829000	Weak transcription	Pancreas	Pancrea
25	chr2:95826200-95829200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:95826200-95829400	Weak transcription	Psoas Muscle	Psoas
27	chr2:95826200-95829400	Weak transcription	Dnd41	blood
28	chr2:95826200-95829600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:95826200-95829600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:95826200-95829600	Weak transcription	Brain Substantia Nigra	brain
31	chr2:95826200-95829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:95826200-95829800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:95826200-95829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:95826200-95829800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:95826200-95829800	Weak transcription	Placenta	Placenta
36	chr2:95826200-95829800	Weak transcription	GM12878-XiMat	blood
37	chr2:95826200-95829800	Weak transcription	NHEK	skin
38	chr2:95826200-95830000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:95826200-95830000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:95826200-95830000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:95826200-95830000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:95826200-95830000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:95826200-95830000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:95826200-95830000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:95826200-95830000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:95826200-95830000	Weak transcription	Adipose Nuclei	Adipose
47	chr2:95826200-95830000	Weak transcription	Liver	Liver
48	chr2:95826200-95830000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:95826200-95830000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:95826200-95830000	Weak transcription	Fetal Intestine Large	intestine

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