Variant report

Variant	rs11886592
Chromosome Location	chr2:114010048-114010049
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	POLR2A	chr2:114009645-114010363	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr2:114009976-114010139	NB4	blood:	n/a	n/a
3	POLR2A	chr2:114009461-114010415	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
PAX8-AS1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10206396	0.81[AFR][1000 genomes]
rs11884791	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11886472	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11903972	0.85[ASN][1000 genomes]
rs17043146	0.85[ASN][1000 genomes]
rs17043176	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73955185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955192	0.86[AFR][1000 genomes];0.85[ASN][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	nsv459008	chr2:113972945-114010791	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv582713	chr2:113972945-114010791	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999000-114014800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:113999200-114013200	Weak transcription	Placenta	Placenta
4	chr2:113999600-114013200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
6	chr2:113999600-114028400	Weak transcription	Ovary	ovary
7	chr2:114000200-114012000	Weak transcription	NHDF-Ad	bronchial
8	chr2:114000600-114011000	Weak transcription	Esophagus	oesophagus
9	chr2:114002400-114015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:114004800-114010600	Weak transcription	Fetal Kidney	kidney
11	chr2:114006600-114012200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:114006600-114016200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:114006600-114016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:114006800-114015800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:114007200-114010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:114007200-114014800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:114008000-114012000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr2:114008000-114013200	Weak transcription	HSMMtube	muscle
20	chr2:114008400-114010200	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:114008400-114011400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:114008400-114012600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:114008400-114012800	Enhancers	Fetal Thymus	thymus
24	chr2:114008400-114016000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:114008600-114010200	Enhancers	Adipose Nuclei	Adipose
26	chr2:114008600-114010200	Enhancers	GM12878-XiMat	blood
27	chr2:114008600-114010400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:114008600-114012400	Weak transcription	A549	lung
29	chr2:114008800-114010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:114008800-114010800	Weak transcription	HSMM	muscle
31	chr2:114008800-114013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:114009000-114010200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr2:114009000-114010600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114009000-114010600	Weak transcription	HMEC	breast
35	chr2:114009000-114013000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:114009000-114013000	Weak transcription	NH-A	brain
37	chr2:114009000-114013800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:114009000-114015000	Weak transcription	K562	blood
39	chr2:114009000-114015400	Weak transcription	Left Ventricle	heart
40	chr2:114009200-114010200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr2:114009200-114010200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:114009200-114010200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:114009200-114014400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:114009200-114015400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:114009400-114010200	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:114009400-114010200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:114009400-114010400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:114009600-114010200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:114009600-114010200	Enhancers	Fetal Heart	heart
50	chr2:114009600-114010200	Enhancers	Fetal Muscle Leg	muscle

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