Variant report

Variant	rs528220366
Chromosome Location	chr12:123474629-123474630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:
2	chr12:123474530..123476275-chr12:123483617..123485746,2	K562	blood:
3	chr12:123473528..123475849-chr12:123479153..123481773,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv560493	chr12:123467325-123479623	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv3343263	chr12:123474249-123476747	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
3	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
4	chr12:123468000-123486200	Strong transcription	Fetal Brain Female	brain
5	chr12:123468200-123476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123468200-123477800	Strong transcription	Brain Germinal Matrix	brain
7	chr12:123468800-123477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
9	chr12:123469000-123476600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:123469200-123477400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
12	chr12:123469400-123479400	Weak transcription	Psoas Muscle	Psoas
13	chr12:123469400-123491600	Weak transcription	HMEC	breast
14	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
15	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:123469600-123474800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:123469600-123475200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123469600-123475200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:123469600-123475600	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr12:123469600-123477000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:123469600-123477000	Strong transcription	Colonic Mucosa	Colon
22	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
25	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
27	chr12:123469800-123491600	Weak transcription	Osteobl	bone
28	chr12:123470000-123475200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123470000-123477000	Strong transcription	Fetal Intestine Small	intestine
30	chr12:123470000-123477200	Strong transcription	Lung	lung
31	chr12:123470000-123480000	Weak transcription	Right Atrium	heart
32	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:123470000-123486200	Weak transcription	HSMM	muscle
34	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:123470200-123475400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:123470200-123476200	Strong transcription	NHLF	lung
37	chr12:123470200-123477200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:123470200-123479200	Strong transcription	Fetal Thymus	thymus
39	chr12:123470200-123479800	Strong transcription	Right Ventricle	heart
40	chr12:123470200-123480400	Weak transcription	HepG2	liver
41	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:123470400-123475400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:123470400-123476200	Strong transcription	Adipose Nuclei	Adipose
44	chr12:123470400-123477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:123470400-123477200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:123470400-123477200	Strong transcription	Fetal Stomach	stomach
47	chr12:123470400-123480000	Strong transcription	Left Ventricle	heart
48	chr12:123470400-123482800	Strong transcription	Gastric	stomach
49	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
50	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung

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