Variant report

Variant	rs370272498
Chromosome Location	chr12:123479977-123479978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123479655..123480155-chr17:61851261..61851888,2	MCF-7	breast:
2	chr12:123473528..123475849-chr12:123479153..123481773,2	K562	blood:
3	chr12:123479422..123482791-chr12:123483500..123486744,3	K562	blood:
4	chr12:123477375..123481349-chr12:123715965..123717558,3	K562	blood:
5	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
6	chr12:123479962..123481505-chr12:123490020..123492968,2	K562	blood:
7	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000198231	Chromatin interaction
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	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
12	esv3388198	chr12:123479722-123480036	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 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	chr12:123469400-123491600	Weak transcription	HMEC	breast
8	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
9	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
13	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
15	chr12:123469800-123491600	Weak transcription	Osteobl	bone
16	chr12:123470000-123480000	Weak transcription	Right Atrium	heart
17	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:123470000-123486200	Weak transcription	HSMM	muscle
19	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:123470200-123480400	Weak transcription	HepG2	liver
21	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:123470400-123480000	Strong transcription	Left Ventricle	heart
23	chr12:123470400-123482800	Strong transcription	Gastric	stomach
24	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
26	chr12:123470600-123486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:123471600-123484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
29	chr12:123472200-123484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:123472400-123480800	Weak transcription	NHEK	skin
31	chr12:123472400-123491400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:123472600-123492800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:123472800-123494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:123473000-123484400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:123473200-123480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:123473200-123481400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:123473200-123483800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:123473200-123484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:123473200-123489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:123473200-123489400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:123473200-123491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:123473400-123480400	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:123473400-123501000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:123473600-123480200	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:123473800-123480200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:123473800-123492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:123473800-123500800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:123474000-123481200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:123475200-123481400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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