Variant report

Variant	rs551824630
Chromosome Location	chr12:58352805-58352806
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	chr12:58339593..58341366-chr12:58350590..58353556,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv523853	chr12:58350631-58386722	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv975500	chr12:58351052-58362673	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336000-58353000	Weak transcription	Small Intestine	intestine
2	chr12:58336200-58353000	Weak transcription	Stomach Mucosa	stomach
3	chr12:58336200-58353400	Weak transcription	Fetal Kidney	kidney
4	chr12:58336200-58353600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:58336200-58353600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:58336200-58353800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:58336200-58353800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:58336200-58354000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:58336200-58354000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:58336200-58354000	Weak transcription	Psoas Muscle	Psoas
11	chr12:58336200-58356200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:58336200-58359600	Weak transcription	A549	lung
13	chr12:58336400-58359600	Weak transcription	HMEC	breast
14	chr12:58336800-58353000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:58337200-58358400	Weak transcription	HepG2	liver
16	chr12:58348800-58353800	Weak transcription	Osteobl	bone
17	chr12:58350600-58355400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:58351200-58359400	Weak transcription	K562	blood
19	chr12:58351400-58355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:58351800-58353200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:58351800-58353600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:58351800-58354400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:58352000-58353400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:58352200-58353600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:58352200-58354800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:58352200-58358200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:58352400-58353000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:58352400-58353000	Weak transcription	Ovary	ovary
29	chr12:58352400-58353200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:58352400-58353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:58352400-58353600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:58352400-58353800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:58352400-58354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:58352400-58354000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:58352400-58354000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:58352400-58354200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:58352400-58354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:58352400-58354400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:58352400-58354600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:58352400-58354600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:58352400-58354600	Weak transcription	Left Ventricle	heart
42	chr12:58352400-58355600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:58352400-58359400	Weak transcription	Placenta	Placenta
44	chr12:58352600-58353000	Weak transcription	Pancreas	Pancrea
45	chr12:58352600-58353000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:58352600-58353600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:58352600-58353600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:58352600-58353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:58352600-58353600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:58352600-58353600	Weak transcription	Colonic Mucosa	Colon

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