Variant report

Variant	rs376006932
Chromosome Location	chr2:58386881-58386882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58368906..58371663-chr2:58384969..58387445,2	K562	blood:
2	chr2:58382175..58383987-chr2:58385684..58387729,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
5	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
12	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:58360800-58388600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
19	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:58368200-58387400	Weak transcription	NHLF	lung
21	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:58370800-58387200	Weak transcription	Brain Anterior Caudate	brain
25	chr2:58373800-58389600	Weak transcription	Thymus	Thymus
26	chr2:58374000-58389400	Weak transcription	Right Ventricle	heart
27	chr2:58374400-58393400	Weak transcription	NHEK	skin
28	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
29	chr2:58374600-58387400	Weak transcription	HMEC	breast
30	chr2:58379800-58389400	Strong transcription	Primary B cells from cord blood	blood
31	chr2:58380800-58387800	Weak transcription	Fetal Brain Female	brain
32	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
33	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:58381200-58391600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:58381800-58390000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:58382200-58388800	Strong transcription	GM12878-XiMat	blood
37	chr2:58382200-58390200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:58382200-58393200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:58382400-58389200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:58382400-58390000	Strong transcription	Adipose Nuclei	Adipose
41	chr2:58382400-58390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:58382400-58390400	Strong transcription	Fetal Intestine Large	intestine
43	chr2:58382400-58391800	Strong transcription	Dnd41	blood
44	chr2:58382600-58390600	Strong transcription	Liver	Liver
45	chr2:58382600-58391400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:58382600-58394000	Weak transcription	Fetal Brain Male	brain
47	chr2:58382600-58395400	Weak transcription	Pancreas	Pancrea
48	chr2:58382600-58395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:58382600-58400200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:58382600-58400400	Weak transcription	Gastric	stomach

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