Variant report

Variant	rs199752745
Chromosome Location	chr2:11052867-11052868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10977377..10978983-chr2:11051588..11054422,2	MCF-7	breast:
2	chr2:11052090..11054765-chr2:11077274..11080049,2	K562	blood:
3	chr2:11045162..11047241-chr2:11052527..11054468,2	K562	blood:

Variant related genes	Relation type
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv873662	chr2:11035430-11061156	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv521177	chr2:11040146-11066699	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3341963	chr2:11051501-11053499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3370687	chr2:11052551-11055049	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
3	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung
6	chr2:11051600-11053000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:11051600-11053000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:11051600-11053600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr2:11051600-11054600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr2:11051600-11056200	Active TSS	Brain Angular Gyrus	brain
11	chr2:11051800-11053000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:11051800-11053000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
13	chr2:11051800-11053000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr2:11051800-11053000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:11051800-11053600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:11052000-11053000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:11052000-11053000	Bivalent Enhancer	Esophagus	oesophagus
18	chr2:11052000-11053000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr2:11052000-11053800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr2:11052000-11053800	Enhancers	Gastric	stomach
21	chr2:11052000-11054200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr2:11052200-11053200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:11052200-11053600	Enhancers	Pancreas	Pancrea
24	chr2:11052200-11054600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:11052400-11054200	Bivalent Enhancer	Spleen	Spleen
26	chr2:11052600-11053000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr2:11052600-11053000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:11052600-11053000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:11052600-11053000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:11052600-11053000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr2:11052600-11053000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr2:11052600-11053000	Bivalent/Poised TSS	Thymus	Thymus
33	chr2:11052600-11053200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:11052600-11054600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:11052800-11053000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr2:11052800-11053000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr2:11052800-11053000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:11052800-11053200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:11052800-11053200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:11052800-11053200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr2:11052800-11053200	Enhancers	Right Ventricle	heart
42	chr2:11052800-11053200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr2:11052800-11053400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:11052800-11053400	Bivalent Enhancer	Fetal Stomach	stomach
45	chr2:11052800-11053800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr2:11052800-11054200	Weak transcription	A549	lung
47	chr2:11052800-11054800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:11052800-11055400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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