Variant report

Variant	rs57348846
Chromosome Location	chr12:30847137-30847138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30840520..30843164-chr12:30846192..30848468,2	MCF-7	breast:
3	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:

Variant related genes	Relation type
ENSG00000246331	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000133704	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57268360	1.00[AMR][1000 genomes]
rs57283759	1.00[AMR][1000 genomes]
rs57520861	1.00[AMR][1000 genomes]
rs58594026	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58736630	1.00[AMR][1000 genomes]
rs59058346	1.00[AMR][1000 genomes]
rs59475424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60192978	1.00[AMR][1000 genomes]
rs60404848	1.00[AMR][1000 genomes]
rs61501812	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30785000-30847800	Weak transcription	Gastric	stomach
2	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:30821800-30847400	Weak transcription	Lung	lung
5	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
6	chr12:30838400-30847400	Weak transcription	Placenta	Placenta
7	chr12:30838600-30847400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:30844200-30847400	Enhancers	HUVEC	blood vessel
9	chr12:30844600-30847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30844600-30847200	Weak transcription	HSMMtube	muscle
11	chr12:30844600-30847400	Weak transcription	Left Ventricle	heart
12	chr12:30844600-30847600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:30844600-30847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:30844600-30847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:30844600-30847800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:30844800-30847400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:30844800-30847400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:30845200-30847400	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:30845200-30847400	Enhancers	Osteobl	bone
20	chr12:30845200-30847600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:30845200-30847800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:30845400-30847200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:30845400-30847400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:30845400-30847600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:30845600-30847200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:30845600-30847200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:30845600-30847200	Enhancers	Brain Anterior Caudate	brain
28	chr12:30845600-30847400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:30845600-30847400	Enhancers	Small Intestine	intestine
30	chr12:30845800-30847400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:30845800-30847400	Weak transcription	HSMM	muscle
32	chr12:30846000-30848000	Flanking Active TSS	Dnd41	blood
33	chr12:30846200-30847200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:30846200-30847200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:30846200-30847200	Active TSS	NHDF-Ad	bronchial
36	chr12:30846200-30847400	Enhancers	Fetal Lung	lung
37	chr12:30846200-30847400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:30846200-30847600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:30846400-30847200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:30846400-30847200	Enhancers	Psoas Muscle	Psoas
41	chr12:30846400-30847400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:30846400-30847600	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:30846400-30847600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:30846400-30847600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr12:30846400-30847800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:30846400-30847800	Enhancers	Esophagus	oesophagus
47	chr12:30846400-30847800	Flanking Active TSS	Fetal Brain Female	brain
48	chr12:30846400-30848000	Enhancers	Spleen	Spleen
49	chr12:30846400-30849400	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:30846600-30847200	Enhancers	H9 Cell Line	embryonic stem cell

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