Variant report

Variant	rs541263475
Chromosome Location	chr2:11054599-11054600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11054478..11056999-chr2:11265255..11267127,2	MCF-7	breast:
2	chr2:11040441..11043101-chr2:11053459..11055088,2	MCF-7	breast:
3	chr2:11053891..11056006-chr2:11074074..11075819,2	MCF-7	breast:
4	chr2:11052090..11054765-chr2:11077274..11080049,2	K562	blood:
5	chr2:11054479..11055033-chr2:11168295..11169158,2	MCF-7	breast:
6	chr2:10975612..10976184-chr2:11054131..11054669,2	K562	blood:
7	chr2:11053991..11056052-chr2:11065201..11067671,2	MCF-7	breast:

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	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
5	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
2	chr2:11051600-11054600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
3	chr2:11051600-11056200	Active TSS	Brain Angular Gyrus	brain
4	chr2:11052200-11054600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11052600-11054600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:11052800-11054800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:11052800-11055400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr2:11053600-11054600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr2:11053600-11054600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr2:11053600-11054800	Active TSS	Brain Cingulate Gyrus	brain
11	chr2:11053600-11054800	Flanking Active TSS	Fetal Brain Female	brain
12	chr2:11053600-11058200	Enhancers	Fetal Brain Male	brain
13	chr2:11053600-11058800	Weak transcription	Pancreas	Pancrea
14	chr2:11053800-11054600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:11053800-11054600	Enhancers	Right Ventricle	heart
16	chr2:11053800-11054800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr2:11053800-11054800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr2:11053800-11055200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:11053800-11056000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:11053800-11058800	Weak transcription	Gastric	stomach
21	chr2:11054000-11054600	Bivalent Enhancer	Fetal Heart	heart
22	chr2:11054000-11054600	Bivalent Enhancer	Left Ventricle	heart
23	chr2:11054000-11056600	Active TSS	Brain Anterior Caudate	brain
24	chr2:11054200-11054600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:11054200-11054600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr2:11054200-11054600	Flanking Active TSS	A549	lung
27	chr2:11054200-11054800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr2:11054200-11054800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr2:11054200-11055000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr2:11054200-11055000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr2:11054200-11055600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:11054200-11056400	Active TSS	Brain Germinal Matrix	brain
33	chr2:11054200-11063600	Enhancers	Fetal Thymus	thymus
34	chr2:11054400-11054600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr2:11054400-11054600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr2:11054400-11054600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
37	chr2:11054400-11054600	Active TSS	Hela-S3	cervix
38	chr2:11054400-11055000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr2:11054400-11055400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:11054400-11072400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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