Variant report

Variant	rs57046047
Chromosome Location	chr12:50141974-50141975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50141965-50142460	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:50141920-50142547	K562	blood:	n/a	n/a
3	POLR2A	chr12:50141974-50142547	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:50141943-50142497	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:50141915-50142605	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:50140846-50143188	A549	lung:	n/a	n/a
7	POLR2A	chr12:50141913-50142588	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:50141924-50142623	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:50141940-50142518	U87	brain:	n/a	n/a
10	POLR2A	chr12:50141069-50142595	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50141422..50142941-chr12:50168874..50170719,2	K562	blood:
2	chr12:50018757..50020272-chr12:50141476..50143680,2	K562	blood:
3	chr12:50141474..50143579-chr12:50146279..50148343,2	MCF-7	breast:
4	chr12:50141258..50143607-chr12:50154074..50155843,2	K562	blood:
5	chr12:50141439..50143610-chr12:50160538..50162943,2	MCF-7	breast:
6	chr12:50030562..50034220-chr12:50141044..50143029,3	K562	blood:

No data

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000110844	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs57124034	1.00[AMR][1000 genomes]
rs57625108	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58039341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61438877	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305065	1.00[AMR][1000 genomes]
rs73305068	1.00[AMR][1000 genomes]
rs73305070	1.00[AMR][1000 genomes]
rs73305081	1.00[AMR][1000 genomes]
rs73305100	1.00[AMR][1000 genomes]
rs73305101	1.00[AMR][1000 genomes]
rs73306844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73306846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73306864	0.91[AFR][1000 genomes]
rs73306865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73306875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73306891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309004	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309010	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309026	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50136600-50146400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:50136800-50144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:50136800-50146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:50137000-50142000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:50137000-50142200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:50137000-50143800	Weak transcription	Colonic Mucosa	Colon
7	chr12:50137000-50146200	Weak transcription	HSMMtube	muscle
8	chr12:50137000-50147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50137200-50146200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:50137200-50152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50137400-50142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:50137400-50143200	Strong transcription	Fetal Thymus	thymus
13	chr12:50137400-50146400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:50137400-50146400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:50137400-50146600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:50137400-50150800	Weak transcription	Fetal Brain Male	brain
17	chr12:50137600-50146200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:50137800-50142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:50137800-50142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:50137800-50142200	Weak transcription	HSMM	muscle
21	chr12:50137800-50143800	Weak transcription	Fetal Stomach	stomach
22	chr12:50137800-50144200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:50137800-50146200	Weak transcription	Fetal Kidney	kidney
24	chr12:50138000-50143800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:50138200-50146400	Weak transcription	Fetal Brain Female	brain
26	chr12:50138400-50143000	Weak transcription	Stomach Mucosa	stomach
27	chr12:50138400-50144000	Weak transcription	Fetal Lung	lung
28	chr12:50138600-50142000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:50138600-50142200	Weak transcription	Brain Anterior Caudate	brain
30	chr12:50138600-50142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:50138600-50142800	Weak transcription	NH-A	brain
32	chr12:50138600-50143400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:50138600-50143800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:50138600-50143800	Weak transcription	Small Intestine	intestine
35	chr12:50138600-50144000	Weak transcription	Esophagus	oesophagus
36	chr12:50138600-50144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:50138600-50146400	Weak transcription	Brain Germinal Matrix	brain
38	chr12:50138800-50142000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:50138800-50142000	Weak transcription	Osteobl	bone
40	chr12:50138800-50143800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:50138800-50143800	Weak transcription	NHLF	lung
42	chr12:50138800-50144000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50139000-50142000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:50139000-50142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:50139000-50142000	Weak transcription	NHDF-Ad	bronchial
46	chr12:50139000-50142200	Enhancers	Fetal Heart	heart
47	chr12:50139000-50142800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:50139000-50143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:50139000-50143800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:50139000-50143800	Weak transcription	Aorta	Aorta

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