Variant report

Variant	rs146516727
Chromosome Location	chr12:4392165-4392166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4104021..4107125-chr12:4390734..4394763,3	K562	blood:
2	chr12:4390281..4392971-chr12:4411655..4413761,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv437722	chr12:4391332-4396746	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
3	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:4386000-4393600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
7	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr12:4386200-4393200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:4386400-4393800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:4386600-4393200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:4386600-4393200	Weak transcription	Thymus	Thymus
15	chr12:4386600-4395000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
17	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:4386800-4396200	Strong transcription	Esophagus	oesophagus
19	chr12:4387000-4395000	Strong transcription	Primary B cells from cord blood	blood
20	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr12:4387600-4394200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:4387800-4392200	Strong transcription	Aorta	Aorta
25	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:4388000-4393800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:4388200-4393200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:4388200-4393800	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr12:4388200-4394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus
32	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
33	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:4388800-4394400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr12:4388800-4394800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:4389000-4393800	Genic enhancers	Adipose Nuclei	Adipose
39	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:4389400-4392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:4389400-4394200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:4389400-4396400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:4389600-4394800	Strong transcription	HMEC	breast
44	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:4389800-4396600	Strong transcription	NHEK	skin
46	chr12:4390000-4393000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:4390000-4393400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:4390000-4393800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:4390000-4396400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:4390000-4398400	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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