Variant report

Variant	rs532239182
Chromosome Location	chr12:4442715-4442716
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv275025	chr12:4441705-4462505	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4443400	Weak transcription	Aorta	Aorta
2	chr12:4431200-4444600	Weak transcription	HSMMtube	muscle
3	chr12:4431200-4446400	Weak transcription	Fetal Stomach	stomach
4	chr12:4431200-4446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
7	chr12:4431400-4445800	Weak transcription	Fetal Thymus	thymus
8	chr12:4431400-4446200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:4431400-4446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:4431400-4446400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:4431600-4443200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:4431600-4443200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:4431600-4444800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:4431600-4445800	Weak transcription	Liver	Liver
15	chr12:4431600-4446400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:4431600-4446400	Weak transcription	Right Ventricle	heart
17	chr12:4431600-4446400	Weak transcription	Spleen	Spleen
18	chr12:4431600-4446800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:4431600-4449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:4431600-4460400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
24	chr12:4431800-4443000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:4431800-4443200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:4431800-4444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:4431800-4444600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:4431800-4444800	Weak transcription	NH-A	brain
29	chr12:4431800-4446400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:4431800-4447200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:4432000-4443200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:4432000-4443200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:4432000-4443800	Weak transcription	NHDF-Ad	bronchial
34	chr12:4432000-4444800	Weak transcription	Hela-S3	cervix
35	chr12:4432000-4448600	Weak transcription	Fetal Brain Female	brain
36	chr12:4432000-4450200	Weak transcription	Stomach Mucosa	stomach
37	chr12:4432200-4443200	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:4432200-4445600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:4432200-4448000	Weak transcription	Right Atrium	heart
40	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
41	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
42	chr12:4432400-4443200	Weak transcription	Left Ventricle	heart
43	chr12:4432600-4445800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:4432800-4446200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:4433000-4443200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:4433000-4446800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:4433000-4447000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:4433000-4447000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:4433200-4443000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:4433200-4443200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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