Variant report

Variant	rs552395408
Chromosome Location	chr12:123478524-123478525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123476420..123479268-chr12:123480429..123483932,4	K562	blood:
2	chr12:123477375..123481349-chr12:123715965..123717558,3	K562	blood:
3	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
4	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
6	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
7	chr12:123469400-123479400	Weak transcription	Psoas Muscle	Psoas
8	chr12:123469400-123491600	Weak transcription	HMEC	breast
9	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
10	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
14	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
16	chr12:123469800-123491600	Weak transcription	Osteobl	bone
17	chr12:123470000-123480000	Weak transcription	Right Atrium	heart
18	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:123470000-123486200	Weak transcription	HSMM	muscle
20	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:123470200-123479200	Strong transcription	Fetal Thymus	thymus
22	chr12:123470200-123479800	Strong transcription	Right Ventricle	heart
23	chr12:123470200-123480400	Weak transcription	HepG2	liver
24	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:123470400-123480000	Strong transcription	Left Ventricle	heart
26	chr12:123470400-123482800	Strong transcription	Gastric	stomach
27	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
29	chr12:123470600-123478800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:123470600-123486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:123471600-123484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
33	chr12:123472200-123484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:123472400-123480800	Weak transcription	NHEK	skin
35	chr12:123472400-123491400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:123472600-123492800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:123472800-123494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:123473000-123479000	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:123473000-123484400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:123473200-123480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:123473200-123481400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:123473200-123483800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:123473200-123484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:123473200-123489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:123473200-123489400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:123473200-123491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:123473400-123479200	Weak transcription	A549	lung
49	chr12:123473400-123479800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:123473400-123480400	Weak transcription	Colon Smooth Muscle	Colon

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