Variant report

Variant	rs192372886
Chromosome Location	chr12:48283949-48283950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48282907..48285803-chr12:48287425..48289642,3	K562	blood:
2	chr12:48282162..48285674-chr12:48296716..48298812,3	K562	blood:
3	chr12:48283676..48285201-chr12:48298400..48300242,2	MCF-7	breast:
4	chr12:48282132..48284740-chr12:48286708..48289007,3	K562	blood:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv975483	chr12:48283145-48285835	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
3	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
4	chr12:48277200-48290600	Weak transcription	Gastric	stomach
5	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
8	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
10	chr12:48278600-48287800	Strong transcription	NHEK	skin
11	chr12:48279200-48285800	Weak transcription	Colonic Mucosa	Colon
12	chr12:48279200-48286000	Weak transcription	Lung	lung
13	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:48279400-48286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:48280200-48286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:48280200-48286600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:48280400-48284800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:48280400-48284800	Weak transcription	HSMM	muscle
19	chr12:48280600-48284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:48280800-48284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:48280800-48284800	Weak transcription	NHDF-Ad	bronchial
22	chr12:48280800-48285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:48280800-48285000	Weak transcription	Osteobl	bone
24	chr12:48280800-48286600	Weak transcription	NHLF	lung
25	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:48282200-48285800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:48282400-48284000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:48282600-48284800	Weak transcription	HMEC	breast
30	chr12:48282800-48286600	Strong transcription	HSMMtube	muscle
31	chr12:48283000-48287800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:48283200-48284000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:48283200-48284400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:48283200-48288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:48283400-48284200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:48283400-48284200	Weak transcription	Small Intestine	intestine
37	chr12:48283400-48284600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:48283400-48284600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:48283400-48285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:48283400-48285800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:48283400-48286400	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:48283400-48286600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:48283400-48287600	Weak transcription	Primary B cells from cord blood	blood
44	chr12:48283400-48287600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:48283400-48287600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:48283400-48289600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:48283400-48289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:48283600-48284600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:48283600-48284600	Weak transcription	Primary monocytes fromperipheralblood	blood

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