Variant report

Variant	rs13006142
Chromosome Location	chr2:144891268-144891269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144887546..144889474-chr2:144891117..144893763,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3351080	chr2:144889932-144892330	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3388579	chr2:144890332-144891830	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
2	chr2:144870200-144895200	Weak transcription	HSMMtube	muscle
3	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
4	chr2:144870600-144891400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
7	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
8	chr2:144872200-144895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:144874400-144897000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
14	chr2:144877200-144895000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:144877200-144895600	Weak transcription	Pancreas	Pancrea
16	chr2:144877200-144903200	Weak transcription	Ovary	ovary
17	chr2:144877400-144891400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:144881200-144895200	Weak transcription	HSMM	muscle
19	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:144883600-144893200	Weak transcription	Primary B cells from cord blood	blood
21	chr2:144889000-144891400	Weak transcription	K562	blood
22	chr2:144889600-144895400	Weak transcription	NH-A	brain
23	chr2:144890400-144891400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:144890400-144895400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:144890600-144891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:144890600-144895200	Weak transcription	NHDF-Ad	bronchial
27	chr2:144890600-144895400	Weak transcription	NHLF	lung
28	chr2:144890800-144891400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:144891000-144891400	Weak transcription	A549	lung
30	chr2:144891200-144891400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:144891200-144891400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:144891200-144891400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:144891200-144891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:144891200-144892000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:144891200-144892200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:144891200-144892400	Enhancers	HUES64 Cell Line	embryonic stem cell

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