Variant report

Variant	rs570532839
Chromosome Location	chr12:48283163-48283164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48272376..48273992-chr12:48281327..48283565,2	MCF-7	breast:
2	chr12:48282907..48285803-chr12:48287425..48289642,3	K562	blood:
3	chr12:48282162..48285674-chr12:48296716..48298812,3	K562	blood:
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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
4	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
5	chr12:48277200-48290600	Weak transcription	Gastric	stomach
6	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
9	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
11	chr12:48278600-48287800	Strong transcription	NHEK	skin
12	chr12:48279200-48285800	Weak transcription	Colonic Mucosa	Colon
13	chr12:48279200-48286000	Weak transcription	Lung	lung
14	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:48279400-48283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:48279400-48283200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:48279400-48283200	Weak transcription	Placenta	Placenta
18	chr12:48279400-48286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:48280200-48286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:48280200-48286600	Weak transcription	Primary T cells from cord blood	blood
21	chr12:48280400-48284800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:48280400-48284800	Weak transcription	HSMM	muscle
23	chr12:48280600-48284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:48280800-48283200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:48280800-48284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:48280800-48284800	Weak transcription	NHDF-Ad	bronchial
27	chr12:48280800-48285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:48280800-48285000	Weak transcription	Osteobl	bone
29	chr12:48280800-48286600	Weak transcription	NHLF	lung
30	chr12:48281400-48283600	Enhancers	Fetal Intestine Large	intestine
31	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:48281800-48283600	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:48282000-48283200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:48282000-48283600	Enhancers	GM12878-XiMat	blood
36	chr12:48282200-48283400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:48282200-48283600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:48282200-48285800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:48282400-48283200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:48282400-48283400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:48282400-48283400	Enhancers	Small Intestine	intestine
42	chr12:48282400-48283600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:48282400-48283800	Enhancers	Spleen	Spleen
44	chr12:48282400-48284000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:48282600-48283400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:48282600-48284800	Weak transcription	HMEC	breast
47	chr12:48282800-48283200	Enhancers	K562	blood
48	chr12:48282800-48283400	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:48282800-48283400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:48282800-48283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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