Variant report

Variant	rs11057183
Chromosome Location	chr12:122712439-122712440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:122708973-122714391	SK-N-SH	brain:	n/a	n/a
2	STAT3	chr12:122712296-122712442	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr12:122709965-122714353	SK-N-SH	brain:	n/a	chr12:122711362-122711378 chr12:122710428-122710437 chr12:122713023-122713037 chr12:122710592-122710599 chr12:122713571-122713585 chr12:122710428-122710444 chr12:122713844-122713853 chr12:122713573-122713587
4	GATA3	chr12:122712403-122713209	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr12:122712066-122713151	SH-SY5Y	brain:	n/a	n/a
6	REST	chr12:122712187-122713125	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
2	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
3	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
4	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GNT4-3	chr12:122710989-122713339	NONHSAT031500

Variant related genes	Relation type
DIABLO	TF binding region
ENSG00000139719	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11057249	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11057279	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057421	0.87[AFR][1000 genomes]
rs56394874	0.80[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122710600-122715000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:122710800-122716600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:122711000-122712800	Flanking Active TSS	Thymus	Thymus
4	chr12:122711000-122713200	Flanking Active TSS	Dnd41	blood
5	chr12:122711400-122712600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:122711400-122713600	Enhancers	Fetal Thymus	thymus
7	chr12:122711400-122715000	Weak transcription	HSMMtube	muscle
8	chr12:122711400-122715200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:122711400-122715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:122711400-122715600	Weak transcription	Fetal Kidney	kidney
11	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:122711600-122712600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:122711600-122712600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:122711600-122712600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:122711600-122712600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:122711600-122712800	Enhancers	Primary T cells from cord blood	blood
17	chr12:122711600-122713600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:122711600-122713600	Weak transcription	HSMM	muscle
19	chr12:122711600-122714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:122711600-122714000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:122711600-122714000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:122711600-122714200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:122711600-122714400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:122711600-122715000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:122711600-122715000	Weak transcription	Hela-S3	cervix
26	chr12:122711600-122715200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:122711600-122715200	Weak transcription	Aorta	Aorta
28	chr12:122711600-122715200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:122711600-122715200	Weak transcription	HepG2	liver
30	chr12:122711600-122715400	Weak transcription	Osteobl	bone
31	chr12:122711600-122715800	Weak transcription	Fetal Heart	heart
32	chr12:122711600-122718000	Weak transcription	A549	lung
33	chr12:122711600-122720200	Weak transcription	HUVEC	blood vessel
34	chr12:122711600-122721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:122711800-122712600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:122711800-122712800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:122711800-122713200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:122711800-122713400	Weak transcription	Left Ventricle	heart
39	chr12:122711800-122713800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:122711800-122713800	Weak transcription	Liver	Liver
41	chr12:122711800-122713800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:122711800-122713800	Weak transcription	HMEC	breast
43	chr12:122711800-122714000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:122711800-122714000	Weak transcription	NHEK	skin
45	chr12:122711800-122714200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:122711800-122714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:122711800-122714200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:122711800-122714200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:122711800-122714400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:122711800-122714400	Weak transcription	Fetal Brain Female	brain

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